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BackgroundMusculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic variants, accurate prevalence of various manifestations and detailed natural history have not been systematically investigated.MethodsWe collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-CHST14 through international collaborations.ResultsSixty-six patients in 48 families (33 males/females; 0–59 years), including 18 newly reported patients, were evaluated. Japanese was the predominant ethnicity (27 families), associated with three recurrent variants. No apparent genotype–phenotype correlation was noted. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation), cutaneous (hyperextensibility, fine/acrogeria-like/wrinkling palmar creases and bruisability) and ocular (refractive errors) features were observed in most patients (>90%). Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia and motor developmental delay were also common (>80%). Median ages at the initial episode of dislocation or large subcutaneous haematoma were both 6 years. Nine patients died; their median age was 12 years. Several features, including joint and skin characteristics (hypermobility/extensibility and fragility), were significantly more frequent in patients with mcEDS-CHST14 than in eight reported patients with mcEDS-DSE.ConclusionThis first international collaborative study of mcEDS-CHST14 demonstrated that the subtype represents a multisystem disorder with unique set of clinical phenotypes consisting of multiple malformations and progressive fragility-related manifestations; these require lifelong, multidisciplinary healthcare approaches.

Summary Background Free hypothenar flap (HTF) transfer allows sensible soft tissue reconstruction of the fingertip. However, HTF is basically indicated for a relatively small soft tissue defect, as width of an HTF is limited up to approximately 20 mm to allow primary donor site closure. Combined with sequential local flap to an HTF donor site, a larger HTF can be used without the contracture risk. The aim of this study was to evaluate feasibility of free HTF transfer and sequential ulnar palm flap (UPF) transfer (HTF–UPF) for relatively large fingertip reconstructions. Methods Medical charts of patients who underwent HTF–UPF for fingertip reconstruction were reviewed. An HTF was designed transversely proximal to the proximal palmar crease, and a slightly smaller hemi-spindle-shaped UPF was designed longitudinally on the mid-lateral aspect of the ulnar palm; the UPF was used to close the HTF donor site. Patient and flap characteristics, intra-operative findings, and postoperative results were evaluated. Results Twelve patients with average age of 42.7 years were included. HTF–UPF procedure was performed on 12 fingers. HTF's length/width ranged from 45/20 to 70/40 mm (average, 52.5/32.1 mm). UPF's length/width ranged from 40/20 to 55/30 mm (average, 46.7/24.2 mm). Time for sequential UPF transfer ranged from 3 to 9 min (average, 5.1 min). All HTFs and UPFs survived without flap necrosis or scar contracture. Postoperative sensation was comparable with the contralateral fingertip. Conclusions HTF–UPF procedure allows relatively large fingertip reconstruction with a minimum risk of HTF donor site contracture.

Palmar fibromatosis (Dupuytren disease/contracture) is the most common type of fibromatosis, defined as a benign proliferation of fibroblasts and myofibroblasts. The disease process is most common in white, middle-aged and older men occurring at the distal palmar crease leading to nodules and contracture, which in many cases recur after surgical treatment. In a similar process, plantar fibromatosis (Ledderhose disease) is a proliferation of fibroblasts and myofibroblasts on the plantar aponeurosis of mostly middle-aged patients that may lead to painful nodules but usually does not lead to contracture. Both processes are histologically similar, composed of a bland cellular proliferation of spindle cells with a bluish appearance and with a variable amount of background collagen, depending on the age of the lesion. The etiology of both lesions is still uncertain, while treatment ranges from observation to surgery, with some pharmacologic agents being investigated with mixed success. In this paper we provide an overview of both processes with regards to clinical and radiologic findings, pathophysiology, diagnosis, treatment, and prognosis.

BACKGROUND Postinflammatory hyperpigmentation (PIH) may affect any skin type but has been linked more often to darker skin. While propensity to hyperpigmentation has not been fully elucidated, there may be a direct correlation to one's palmar crease pigmentation. OBJECTIVE The aim of this study is to validate the reliable use of a palmar creases pigmentation (PCP) scale, and its accuracy in predicting the risk of PIH. METHODS A prospective, comparative, and blinded study was conducted through photo-numeric analysis of 126 photographs of pairs of palms. We utilized a 4-point visual scale based on the level of contrast between palmar crease pigment and that of the surrounding skin. Score 0 indicated no difference, score 1 referred to a low difference, score 2 meant a moderate difference, and score 3 related to a high difference. Scores were subdivided based on the risk of PIH. Scores 0-1 are low risk and scores 2-3 are high risk. A panel of 8 medical experts independently evaluated and re-evaluated the photographs that were shown in a random order. RESULTS A significant degree of inter-rater reliability was found at both evaluation visits, with an intra-class correlation coefficient (ICC) = 0.908, P

BACKGROUND Hand Zone 2 flexor injuries are among the most important tendon lesions and its prognosis is poorer than the other hand zones. Limited incisions prevent multiple skin flaps. The present study aimed to determine the location of palmar flexor tendons using surface anatomical markers to provide a simple and easy guide for hand surgeons assisting them in minimal incisions. METHODS Patients with hand injuries in Zone 2 were taken to the operating room for surgery. The skin and subcutaneous tissue over the flexor tendons sheath were incised. After finding the flexor tendons in the palm, their exact position was located with a blue needle (23G) over the palm crease and marked relative to the finger borders. RESULTS Thirty-eight patients with the mean age of 27±3.6 years were operated. Totally, 57 fingers and 38 palms were dissected. The flexor tendons were located under the proximal and distal palm creases between two parallel lines extended from finger borders and mid-axial axis of the fingers. The average distance from finger print to distal palmar crease was 25, 32 and 24 mm for little, ring and long finger, respectively and 32 mm from index finger print to mid palmar crease. CONCLUSION The precise position of flexor tendons can be easily determined in the palm according to surface anatomical markers and plan for limited incisions.

The scientific study of epidermal ridges on the palms and toes is termed dermatoglyphics. Multiple births occur when more than one fetus results from a single pregnancy. This study is aimed at determining the relationship if any between multiple births and palmar flexion creases. Two hundred Igbo-Ora and one hundred Ogbomosho healthy and consenting adult female indigenes aged between 25-50 years were recruited and grouped into 4; group I consisted of multiple births women in Igbo-Ora; group II consisted of single births women in Igbo-Ora; group III consisted of multiple births women in Ogbomosho; and group IV consisted of single births women in Ogbomosho. A total of 600 palms (Igbo-Ora n=400; Ogbomosho n=200) comprising of both hands were used in the study. Palm prints samples were obtained by asking the participants to wash their hands, towel dry them, after which they were stained with stamp ink pad and prints made on A4 paper in duplicates. Palm print patterns of 105 (Igbo-Ora) and 50 (Ogbomosho) women with multiple births were compared with 95 (Igbo-Ora) and 50 (Ogbomosho) women with single births. The percentage number of primary, P and intersection, I of palmar creases with complete transverse creases, C (PIC) 300 bilaterally was significantly greater (p < 0.005) in the hands of Igbo-Ora multiple births women (52.4 %) than their single births women (37.4%) while same trend was observed for Ogbomosho women although difference was statistically insignificant,(p > 0.005). In both Igbo-Ora and Ogbomosho women, PIC 310 bilaterally was found to be significantly higher (p < 0.05) in both hands of single births women than the multiple births women. Hence, dermatoglyphics can be said to have relationship with a woman’s tendency to giving birth to multiples. Keywords: Multiple births, dermatoglyphics, palmar flexion creases, Ogbomosho, Igbo-Ora

The variability of the recurrent branch (RB) of the median nerve lends itself to an increased risk of injury when performing the minimally invasive approach for carpal tunnel release without its direct visualization. This risk is less so when it is released via the more invasive open approach as the RB can be easily identified, but the drawback is that of longer postoperative patient recovery time. Therefore, performing these releases via the less invasive approach should be more favorable for patients providing it could be done safely. Hence with there being a positive link between the hypertrophy of the thenar musculature and the course of RB according to previous studies. We dissected 28 hands of 14 donated bodies fixed using Thiel’s method to try to demonstrate these findings of the associations among the RB, palmar creases and other superficial anatomical landmarks. Fisher’s exact test was conducted to verify the relationship between those structures statistically. Statistically significant links were found between the type of the RB and the type of the palmar creases (p value = 0.0094) and between the RB type and the palmaris longus muscle presence (p value = 0.028). It was inferred that palmar creases and other superficial anatomical landmarks listed in the text could not be used to predict the variability of the RB and the choice of mini-invasive approach should not be based on their course.

Introduction- Etiology of mental retardation is multi-factorial which include various genetic and environmental factors. Minor physical anomalies are commonly observed in these children. Abnormal palmar creases are one of them. Aim-To compare prevalence of abnormal palmar creases in children with mental retardation and typically developing children. Methodology- Case controlled cross sectional study conducted on children with mental retardation and typically developing normal children. Photographs of palm were clicked using high resolution camera, digitally saved and evaluated later on. Results- The prevalence of abnormal palmar creases is increased in children with mental retardation. Correlation between increasing severity of mental retardation and abnormal palmar creases was noticed only in the right hand. Conclusion- Abnormal palmar creases are one of the minor physical anomalies found in children with mental retardation. Its presence would prompt clinicians for early screening and diagnosis which would increase possibility of early intervention.

Introduction: Carpal tunnel syndrome is the most common entrapment neuropathy and is caused by median nerve compression at the wrist as it passes through carpal tunnel. Aim: To detect cross sectional area (CSA) of median nerve at the level of distal palmar crease and ratio of cross sectional area at level of proximal carpal tunnel to area 5 cm proximal to carpal tunnel using ultrasound. Materials and Methods: Consecutive patients of age between 18 and 70 years, who presented with paraesthesia of hands (aggravated by holding or keeping hand elevated or with history of nocturnal worsening) and electrophysiological confirmed as mild to moderate idiopathic cases of carpal tunnel syndrome were included in the study. Baseline nerve conduction study was done as per standard protocol for carpal tunnel syndrome. Nerve ultrasound was done with high frequency linear-array transducer (7-14 Hz). Results: 50 wrists in 30 Patients with CTS were studied. Females were more involved with a male: female ratio of 1:5. Mean age was 56.8 years (range 25–82 years). Majority of the cases were bilateral (67%). Dominant hand was involved more (80%) than non-dominant one. Most common symptoms were numbness (100%) and paraesthesia on holding (90.91%). On nerve ultrasound, all patients had CSA of median nerve at proximal carpal tunnel more than 10 square millimetre .The wrist fore-arm CSA ratio was more than 1 in all cases. Majority of the hands were having a cross sectional area 10-11.9 square millimetre and more than 16 square millimetre. We found correlation between CSA at distal palmar crease and median sensory conduction studies. Conclusion: Our study affirms previous studies in demonstrating the usefulness of ultrasonography in diagnosing CTS. Median nerve Cross-sectional area can be used for clinical screening of Carpal tunnel syndrome patients. Keyword: Carpal tunnel syndrome, Cross sectional area, Wrist-ultrasound.

The best-studied examples of genetically defined developmental disorders, such as Down syndrome (trisomy 21) and velocardiofacial syndrome (del22q11), have been known since before the genomic era and were initially recognized as distinct syndromes based on their own unique constellation of dysmorphic and multisystem features. For example, Down syndrome is characterized by the co-occurrence of several dysmorphic features, including a flattened facial profile, slanted palpebral fissures, protruding tongue, and transverse palmar crease, with accompanying hypotonia, cardiac issues, and developmental delay.1 None of these features in isolation is specific to Down syndrome, and all features are not present in all cases, but the co-occurrence of multiple features from this set is a specific and sensitive marker for the presence of trisomy 21. To what extent might similar principles apply to the patterning of cognitive and behavioral features across different neurogenetic syndromes?

Purpose: There is little information regarding the starting points for intramedullary K-wires and their effect on the soft tissues surrounding the metacarpophalangeal (MCP) joint. This study attempted to identify starting points for intramedullary K-wire fixation and determine the effect of these K-wires on soft tissues surrounding the MCP joint. Methods: We placed intramedullary K-wires in the index, middle, and little finger metacarpals and proximal phalanges in 6 cadaveric specimens. We measured the starting points of the K-wires and performed dissection to evaluate which structures were penetrated. A Fisher exact test determined statistical significance between K-wire penetration of soft tissue structures and the starting point for K-wires. Results: Metacarpal K-wires started 8.5 ± 1.5 mm volar to the dorsal aspect of the metacarpal head, 19.1 ± 4.6 mm proximal to the digital palmar crease, and 8.6 ± 1.2 mm from the metacarpal head midline. All MCP K-wires crossed at least one soft tissue structure about the MCP joint; the most commonly the sagittal band. Proximal phalanx K-wires started 8.9 ± 2.9 mm proximal to the distal aspect of the metacarpal head, 25.5 ± 5.9 mm proximal to the digital palmar crease, and 9.9 ± 1.5 mm from metacarpal head midline. All proximal phalanx K-wires crossed at least one soft tissue structure about the MCP, most commonly the joint capsule. No relation was established between K-wire start point and penetration of soft tissue structures. Conclusions: Use of these measurements may aid the physician in placing intramedullary K-wires into the proximal phalanges and metacarpals. Starting points that decrease the rate of penetration of soft tissue structures around the MCP joint have not been described, and all pins crossed at least one soft tissue structure adjacent to the MCP joint. Type of study/level of evidence: Therapeutic IV Key words: complication, fracture, K-wire, metacarpal, phalangeal

The creases of the palm have been of interest for clinicians, anthropologists, and palmists for hundreds of years, but the variations in them have only been studied during the past 50 years. The simian crease, aptly named for its resemblance to the palmar creases of nonhuman simian primates, has received recognition clinically and anthropologically owing to its abnormal appearance and confounding cytogenetic etiology. Given the rarity of these palmar creases but also their usefulness in diagnosing congenital disorders, discussion of cases of those disorders could provide clinicians with further helpful diagnostic knowledge. This review of the literature focuses on the history, embryology, genetic and hereditary origins, and clinical significance of simian creases for the benefit of the diagnosing clinician. Clin. Anat. 32:1042-1047, 2019. © 2019 Wiley Periodicals, Inc.

BackgroundPathogenic PLOD3 variants cause a connective tissue disorder (CTD) that has been described rarely. We further characterise this CTD and propose a clinical diagnostic label to improve recognition and diagnosis of PLOD3-related disease.MethodsReported PLOD3 phenotypes were compared with known CTDs utilising data from three further individuals from a consanguineous family with a homozygous PLOD3 c.809C>T; p.(Pro270Leu) variant. PLOD3 mRNA expression in the developing embryo was analysed for tissue-specific localisation. Mouse microarray expression data were assessed for phylogenetic gene expression similarities across CTDs with overlapping clinical features.ResultsKey clinical features included ocular abnormalities with risk for retinal detachment, sensorineural hearing loss, reduced palmar creases, finger contractures, prominent knees, scoliosis, low bone mineral density, recognisable craniofacial dysmorphisms, developmental delay and risk for vascular dissection. Collated clinical features showed most overlap with Stickler syndrome with variable features of Ehlers-Danlos syndrome (EDS) and epidermolysis bullosa (EB). Human lysyl hydroxylase 3/PLOD3 expression was localised to the developing cochlea, eyes, skin, forelimbs, heart and cartilage, mirroring the clinical phenotype of this disorder.ConclusionThese data are consistent with pathogenic variants in PLOD3 resulting in a clinically distinct Stickler-like syndrome with vascular complications and variable features of EDS and EB. Early identification of PLOD3 variants would improve monitoring for comorbidities and may avoid serious adverse ocular and vascular outcomes.

Purpose The hand has unique skin characteristics. Intrinsic flap donors are limited due to functional specificity and compactly connected structures. The hypothenar area is a reliable option for the reconstruction of finger defects. We performed anatomic studies elucidating the blood supply of this area and hypothesized that the fourth common palmar digital artery perforator free flap can be used to reconstruct soft tissue defects in fingers with minimal donor site morbidity. Methods From November 2017 to February 2020, 30 procedures of fourth common digital artery perforator free flaps were performed to cover digital skin defects . A retrospective chart review was performed, and the cases were analyzed. Results The mean patient age was 42.4 years (range, 1–75 years; median age, 40 years). Defects were located at the fingertip (n = 12), the dorsum (n = 3), the palmar (n = 9) aspect of the finger, and both the dorsal and palmar aspects of the finger (n = 6). Indications included emergent coverage (n = 13), coverage after necrosis (n = 11), oncological resection (n = 1), and contracture release (n = 5). The defect size ranged from 1.5 × 0.8 cm (1.2 cm 2) to 6 × 2.5 cm (15 cm2 ). The perforator was located approximately 1 cm proximal to the distal palmar crease as it arose from the fourth common digital artery at a right angle. It continued to the ulnar border of the hand through the superficial fascia of the hypothenar muscles before running in a proximoulnar direction toward the dorsum of the hand. The diameter of the perforator was between 0.5 and 0.7 mm. All flaps survived. One case required a split-thickness skin graft for donor site closure, and all others could be closed primarily. Conclusions The fourth common digital artery perforator is a versatile flap and can be used for both palmar and dorsal defects, including for the fingertip. The location of the perforator used differs from previous descriptions but is routinely and reliably located. Type of study/level of evidence Therapeutic IV.

Rationale: Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene. Patient concerns: We report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as delayed psychomotor and mental development, seizures and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 to 3 toe syndactyly, hypotonia, microretrognathia, strabismus, and absent speech and walking. The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus. In addition, the patient suffered from many other symptoms. Diagnoses: The boy, his brother and their parents were subjected to whole-exome sequencing. Because of uncertainties in symptomatology and inheritance pattern, the top-down approach was hard to apply. Using the bottom-up approach, we identified a known pathogenic variant, NM_001144967.2(NEDD4L):c.2677G>A:p.Glu893Lys, in the proband's genome that absented in any other analyzed family member, suggesting its de novo origin. Interventions and outcomes: The patient was treated with Convulex 300 mg/mL for the successful seizure control and Euthyrox 25mg for the treatment of thyroid malfunction. He also took various supplements for the metabolism support and digestion regulation. Moreover, the patient underwent the corrective surgeries of cleft palate and talipes equinovarus. Lessons: We successfully identified the causative mutation NM_001144967.2(NEDD4L):c.2677G>A:p.Glu893Lys explaining symptoms overlapping those reported for PVNH7. Symptoms shared with the brother were not explained by this variant, since he was not a carrier of the pathogenic NEDD4L variant. These are most likely not extended phenotypes of PVNH7, rather an independent clinical entity caused by a yet unidentified genetic factor in the family, highlighting thus the importance of thorough evaluation of symptomatology and genomic findings in affected and unaffected family members, when such data are available.

Background: Tendon adhesions and capsular contractures following trauma to the proximal interphalangeal joint (PIPJ) may significantly reduce hand function. Traditional, staged surgical management prioritizes restoration of PIPJ passive range of motion with joint release prior to restoration of active range of motion (AROM) with tenolysis. This is expensive and burdensome for patients. Our objective was to evaluate functional outcomes of combined PIPJ release and zone II flexor tenolysis. Methods: We retrospectively reviewed patients who underwent combined PIPJ release and flexor tenolysis. Replantation and tendon graft cases were excluded. Data were collected on pre- and postoperative AROM, total active motion (TAM), tip to distal palmar crease (DPC) distance, and grip strength. Functional outcomes were graded using the Boyes, American Society for Surgery of the Hand, and modified Strickland scores. Results: Twelve patients (9 men and 3 women, median age = 40 years) with a total of 15 digits underwent combined PIPJ release and flexor tenolysis a median of 10.1 months after injury. At a median follow-up of 4.0 months, there were significant improvements in median PIPJ AROM (15° to 70°), TAM (105° to 223°), tip to DPC distance (6.0 to 2.0 cm), and grip strength (35% to 54% of unaffected hand). Modified Strickland score was good in 46% of digits and excellent in 38%. There were no tendon ruptures, surgical site infections, or devascularized digits. Conclusion: Proximal interphalangeal joint stiffness is a challenging complication of hand trauma. Although a complete return to premorbid range of motion and function is rarely attained with surgery, improved outcomes may be consistently achieved with secondary combined PIPJ release and zone II flexor tenolysis.

Background Musculocontractural Ehlers–Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss‐of‐function variants in CHST14 (mcEDS‐CHST14) or DSE (mcEDS‐DSE), both of which result in defective dermatan sulfate biosynthesis. Forty‐one patients with mcEDS‐CHST14 and three patients with mcEDS‐DSE have been described in the literature. Methods Clinical, molecular, and glycobiological findings in three additional patients with mcEDS‐DSE were investigated. Results Three patients from two families shared craniofacial characteristics (hypertelorism, blue sclera, midfacial hypoplasia), skeletal features (pectus and spinal deformities, characteristic finger shapes, progressive talipes deformities), skin features (fine or acrogeria‐like palmar creases), and ocular refractive errors. Homozygous pathogenic variants in DSE were found: c.960T>A/p.Tyr320* in patient 1 and c.996dupT/p.Val333Cysfs*4 in patients 2 and 3. No dermatan sulfate was detected in the urine sample from patient 1, suggesting a complete depletion of DS. Conclusion McEDS‐DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS‐CHST14. However, the burden of symptoms seems lower in patients with mcEDS‐DSE., Clinical, molecular, and glycobiological findings in three additional patients from two families with musculocontractural Ehlers–Danlos syndrome (mcEDS‐DSE) are described. McEDS‐DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS‐CHST14. However, the burden of symptoms seems lower in patients with mcEDS‐DSE.

Systemic sclerosis (SSc) is a collagen-vascular disorder characterized by fibrosis and vasculopathy. Delta finger to palm distance (delta FTP) is an index measuring the distance between the tip of the third finger to the distal palmar crease in the flexed and extended position. The present study aimed to evaluate the clinical value of delta FTP and to assess the correlation of delta FTP with modified Rodnan skin score (mRSS) and forced vital capacity (FVC) over the 12-month follow-up. This prospective longitudinal study began with 50 participants who were followed for twelve months. Lowess smoothing and linear regression were applied to detect and assess the relationship between delta FTP and mRSS. p-values were adjusted by the Benjamini-Hochberg method (BHM) as a control for false discovery rate. Delta FTP was lower among patients with higher disease duration (p-valueadj: 0.008), diffuse cutaneous SSc (p-valueadj: 0.006), digital ulcers (p-valueadj: 0.003), telangiectasia (p-valueadj: 0.006) and dysphagia (p-valueadj: 0.036). The mRSS has a significant negative linear effect on the delta FTP at the baseline and the end of the follow-up (r: -0.31 and -0.40, respectively). Moreover, changes of mRSS and delta FTP showed a negative linear association over time (r: -0.22). These linear effects remained significant after regrouping the patients based on their SSc subtype. Delta FTP and FVC were not correlated either at the baseline or at the end. It seems that the delta FTP can be a valuable clinical index, supported by its correlated changes with mRSS and other SSc clinical manifestations over the one-year follow-up.

Background It is proposed that vitamin C administration can reduce disproportionate pain and stiffness after distal radius fracture; however, randomized trials that tested this hypothesis have had inconsistent results. Questions/purposes (1) Is administering vitamin C after distal radius fracture associated with better ROM, patient-reported upper extremity function, and pain scores? (2) What factors are associated with post-fracture finger stiffness and worse upper extremity function? Methods This is a double-blind, randomized, placebo-controlled, noncrossover study. Between August 2014 and July 2017, we approached 204 consecutive patients, of which 195 were eligible, and 134 chose to participate. Participants were randomized to receive once-daily 500 mg vitamin C (67 participants) or placebo (67 participants) within 2 weeks after distal radius fracture. All patients received usual care at the discretion of their surgeon. The mean age of participants was 49 ± 17 years, 99 patients (74%) were women, and 83 (62%) were treated nonoperatively. The primary outcome was the distance between the fingertip and distal palmar crease 6 weeks after fracture. This measure is easy to obtain and previously has been shown to correlate with aggregate ROM of all finger joints. The secondary outcomes were total active finger motion, total active thumb motion, upper extremity-specific limitations, and pain intensity.An a priori power analysis suggested 126 patients would provide 80% power to detect a difference of 2 cm (SD 4.0) fingertip distance to palmar crease with α set at 0.05 using a two-tailed Student's t-test. Accounting for 5% lost to followup, we included 134 patients.All analyses were intention-to-treat. Ten participants of the intervention group and five of the placebo group were lost to followup. Their missing data were addressed by multiple imputation, after which we performed linear regression analysis for our outcome variables. Results Administration of vitamin C was not associated with ROM, function, or pain scores at 6 weeks (distance to palmar crease: β -0.23; 95% CI -1.7 to 1.2; p = 0.754; finger ROM: β 4.9; 95% CI, -40 to 50; p = 0.829; thumb ROM: β 0.98; 95% CI, -18 to 20; p = 0.918, Patient-Reported Outcomes Measurement Information System [PROMIS] score: β 0.32; 95% CI, -2.6 to 3.2; p = 0.828; pain score: β -0.62; 95% CI, -0.62 to 0.89; p = 0.729) nor at 6 months (PROMIS score: β -0.21; 95% CI, -3.7 to 3.3; p = 0.904; pain score: β 0.31; 95% CI, -0.74 to 1.4; p = 0.559). At 6 weeks, we found that more finger stiffness was mildly associated with greater age (β -1.5; 95% CI, -2.8 to -0.083; p = 0.038). Thumb stiffness was mildly associated with greater age (β -0.72; 95% CI, -1.3 to -0.18; p = 0.009) and strongly associated with operative treatment (β -32; 95% CI, -50 to -13; p = 0.001). Greater pain interference was modestly associated with greater functional limitations at 6 weeks (β -0.32; 95% CI, -0.52 to -0.12; p = 0.002) and 6 months (β -0.36; 95% CI, -0.60 to -0.11; p = 0.004). Conclusions Vitamin C does not seem to facilitate recovery after distal radius fracture, but amelioration of maladaptation to nociception (pain interference) merits greater attention. Level of evidence Level I, therapeutic study.

With an incidence of 1 in 700 births, Down syndrome (DS) is not an uncommon condition. It is associated with various disorders of different organ systems. Serious disorders include cardiac defects and leukemia. With an onset during the newborn period, the latter does not always progress to classic myeloid leukemia (transient myeloproliferative disorder). Skin manifestations in newborns include pustules/vesiculopustules. In individuals with DS, such lesions should not only prompt suspicion for typical neonatal rashes and infections but also for transient myeloproliferative disorder. However, most dermatoses are benign. They essentially comprise disorders of keratinization that present as xerosis, keratosis pilaris, lichenification, and ichthyosis vulgaris. Also typical but not specific is the four-finger palmar crease (simian crease). Patients frequently develop folliculitides, which - due to elastolysis - subsequently progress to anetoderma. The known immune disturbance in DS patients explains the occurrence of autoimmune diseases such as alopecia areata and vitiligo. Typical skin conditions associated with DS include elastosis perforans serpiginosa, syringomas, milia-like calcinosis cutis, and multiple eruptive dermatofibromas.

Background: Electrophysiologic studies have been considered the “gold standard” in diagnosing carpal tunnel syndrome (CTS); however, reports of false-negative results, as well as discomfort for the patient during the procedure has paved the use of ultrasound, being a painless and cost-efficient tool, as an alternative means for its diagnosis. Various ultrasound parameters assessing the median nerve and wrist dimensions have been described, but description of landmarks to assess these in a reliable manner has been lacking. Methodology: A systematic search of different databases yielded data regarding ultrasound parameters for CTS diagnosis, the landmarks used, and presence of reliability testing. Based on this, three sonologists discussed the external and sonographic landmarks that will be used in measuring the median nerve measurements, bowing of the flexor retinaculum and the carpal tunnel dimensions. A pilot test with two consecutive healthy participants using the discussed ultrasound parameters was carried out, and results were subjected to inter- and intra-rater reliability testing. Modifications were accordingly made on the acquisition of ultrasound image using external landmarks. The reliability testing proper was done with ten consecutive healthy participants. Results: Based on the systematic review and the pilot study, external landmarks were used to locate the median nerve in the forearm, carpal tunnel inlet and outlet. For the forearm measurement, it was taken 10 cm proximal from the distal palmar crease. The distal palmar crease was the external landmark used for the carpal tunnel inlet, while for the carpal tunnel outlet; it was measured 1 cm distal to the distal palmar crease. Instead of using the inner edge of the hook of hamate and trapezium, the apices of these bones were used as the landmarks in measuring the carpal tunnel outlet dimensions. There was excellent intra-rater reliability (mid-forearm, carpal tunnel inlet and outlet) except for the following: cross-sectional area (CSA) of the median nerve at the carpal tunnel inlet and outlet; and bowing of the flexor retinaculum. All the parameters had an excellent inter-rater reliability measured at the three levels (intraclass correlation [ICC]: Of 0.77–0.99) except for CSA of the median nerve at the levels of the forearm (fair-to-good with ICC of 0.71) and the carpal tunnel inlet (fair-to-good reliability of ICC: 0.43). Conclusion: There was an improved inter- and intra-rater reliability when external landmarks were used instead of sonographic landmarks.

Undiagnosed genetic disease imposes a significant burden on families and health-care resources, especially in cases with a complex phenotype. Here we present a child with suspected leukodystrophy in the context of additional features, including hearing loss, clinodactyly, rotated thumbs, tapered fingers, and simplified palmar crease. Trio genome sequencing (GS) identified three molecular diagnoses in this individual: compound heterozygous missense variants associated with polymerase III (Pol III)–related leukodystrophy, a 4-Mb de novo copy-number loss including the MYCN gene associated with Feingold syndrome, and a mosaic single-nucleotide variant associated with COL2A1-related disorders. These variants fully account for the individual's features, but also illustrate the potential for superimposed and unclear contributions of multiple diagnoses to an individual's overall presentation. This report demonstrates the advantage of GS in detection of multiple variant types, including low-level mosaic variants, and emphasizes the need for comprehensive genetic analysis and detailed clinical phenotyping to provide individuals and their families with the maximum benefit for clinical care and genetic counseling.

Objective: Injuries by mole guns differ from other firearm injuries primarily because they are close-range, low-energy injuries that are highly contaminated owing to contact with contaminated surfaces and the presence of numerous residual foreign bodies within the wound. The aim of this study was to share our surgical experience regarding the repair of severe hand injuries caused by mole gun. Materials and Methods: This retrospective study included 11 patients with hand injuries. Data obtained from the patients included age, gender, dominant or non-dominant hand and injuries to all vital structures, reconstructive procedures were assessed, categorized, and recorded. Results: Ten patients had defects in one or several common digital branches of the median nerve in areas ranging from the distal part of the carpal tunnel to the distal palmar crease. All patients had flexor and extensor tendon injuries in all fingers except for the first finger. Reconstruction of soft tissue and skin defects was carried out with an interpolation flap planned from the random-based subpectoral-paraumbilical region in five patients, an SCIA-based groin flap in four patients, a reverse-radial forearm flap in one patient, and an adipofascial flap planned from forearm in one patient. Conclusion: Mole gun injuries typically include all structures of hand and repair procedures involve every anatomic structure of the hand. An early and effective surgical operation followed by prolonged and effective physical therapy protocols are vital for regaining the full spectrum of hand functions. Keywords: mole gun; hand injury; flap; reconstruction; tendon; nerve

Background: Isolated stiffness in a single finger can affect the function of adjacent digits and decrease overall hand function due to the quadriga phenomenon. This study objectively quantifies the dysfunctional impact of each individual stiff finger upon the remaining digits. Methods: Twenty-five individuals (10 men and 15 women) with a mean age of 31 years (range, 18-58 years) without any upper limb pathology, neuropathy, or systemic illness were recruited. Volar-based finger splints were used to hold individual digits of the dominant hand (24 right and 1 left) sequentially in full extension at the metacarpophalangeal (MCP), proximal interphalangeal (PIP), and distal interphalangeal (DIP) joints. Motion of the remaining 3 nonsplinted digits was assessed using a finger goniometer and linear scale to measure the total active range of motion (TAM) and fingertip-to-distal palmar crease (DPC) distance. TAM before and after splinting for each digit was compared using 1-way analysis of variance (ANOVA). Results: Splinting of any individual finger resulted in a significant reduction in the TAM of all adjacent fingers, regardless of which finger was splinted ( P < .001). Digits immediately adjacent to the splinted finger were more heavily impacted compared with nonadjacent digits. Splinting of the ring finger produced the greatest detriment, with a 26% to 47% reduction in the TAM and a DPC distance greater than 40 mm in a third of participants. The index finger caused the least disturbance to remaining digital motion. Conclusions: Isolated finger stiffness causes a variable degree of dysfunction on adjacent normal digits. This emphasizes the need for a focused and proactive approach to restore full active motion following isolated finger injuries to prevent persistent functional sequelae of the hand.

A 30 years old, strictly vegetarian male presented with generalized weakness, weight loss, and gradually progressing cutaneous hyperpigmentation. On examination, pigmentation was more pronounced on sunexposed areas, flexural folds, and palmar creases along with mucosal involvement in the form of glossitis and pallor. Laboratory investigations revealed megaloblastic anaemia and low vitamin B12 level, thereby confirming the diagnosis of vitamin B12 deficiency. The treatment consisted of vitamin B12 supplementation. Vitamin B12 deficiency may occur due to malabsorption (due to pernicious anemia or gastric resection) and rarely, due to inadequate intake (almost exclusively in strict vegetarians). Cutaneous manifestations due to vitamin B12 deficiency manifest early and have diagnostic importance, thus allowing timely diagnosis and prevention of late neurological and other systemic complications.

Introduction The homodigital antegrade island flap pedicled on the proper palmar digital artery is very useful for covering fingertip defects. However, it has its drawbacks, such as the risk of stiffness due to retractile scars and the need for extensive dissection with long-lasting dysesthesia in some cases. In clinical studies, expanding the skin paddle with V-shaped incisions increases the flap's advancement. We wanted to know whether making these V incisions for paddle expansion would make dissection on the volar side of the proximal interphalangeal joint unnecessary. Methods A cadaver study was performed with four fresh-frozen upper limbs. Sequential dissection was carried out on 32 flaps, allowing us to compare the advancement obtained and the area of the flap's paddle between each step. Results Crossing the palmar crease of the proximal interphalangeal joint provides only 2 mm advancement of the homodigital antegrade flap. Adding one or two V-shaped incisions in the flap with limited dissection provides additional advancement of 4.1 mm (p Discussion Our study shows the possibility of increasing the homodigital antegrade flap's advancement – without having to extend the dissection proximally to the PIP joint – by making V-shaped incisions in the paddle. Based on our findings, we have proposed a new flap dissection sequence.

Introduction: A lipoma is a benign tumor of the adipose tissue and the most common tumor of the subcutaneous tissue which is most commonly found on the trunk. It appears as a round or oval subcutaneous mass of soft consistency, which is not attached to the skin or to the deeper tissues. Its growth can cause compressive symptoms, the most common being pain and paresthesia. Case report: Considering the fact that lipomas very rarely occur in the hand and foot, in this paper we present a case of a large lipoma in the hand of a 70-year-old female patient, with a subcutaneous tumor, in the area of the ulnar side of the left palm, and the pain and tingling in the fourth and fifth finger. Longitudinal incision on the medial side of the palm and transversal incision up to the proximal palmar crease were performed under general endotracheal anesthesia. The extirpated tumor was, due to its dimensions (5.6 x 3.4 x 2.5 cm), categorized as a giant hand lipoma. A histopathological analysis confirmed the diagnosis of lipoma. Conclusion: A hand lipoma requires surgical treatment exclusively, involving a qualified hand surgeon, which is important because of the high functional and aesthetic importance of the hand.

The immune checkpoint inhibitors (ICPi) revolutionize the cancer therapeutics, though not being devoid of toxicity. The immune-related primary adrenal insufficiency (PAI) is a rare, yet potentially life-threatening, adverse event, posing diagnostic and therapeutic challenges. We report the first case of reversible PAI related to nivolumab (programmed cell-death 1 protein inhibitor) in a 42-year-old male with metastatic rectal adenocarcinoma. PAI manifested as profound fatigue, disorientation, hypotension, hyperpigmentation of palmar creases, and hyponatremia without hyperkalemia 16 weeks after initiation of nivolumab. Due to impending adrenal crisis, intravenous stress doses of hydrocortisone and hydration with normal saline were initiated. When the state of patient was stabilized, PAI was confirmed through 250 μg Synacthen test 24 h after temporary cessation of hydrocortisone. Hydrocortisone was fixed at maintenance dose, while mineralocorticoid substitution was not required. PAI was ascribed to nivolumab based on history, physical examination, and laboratory work-up with emphasis on positivity of anti-21-hydroxylase antibodies and exclusion of other causes of PAI by normal imaging of adrenal glands on computed tomography (CT). Reevaluation of adrenal function during follow up demonstrated complete recovery. A review of literature concerning the immune-related PAI indicated that the complete recovery of adrenal function, the normal CT imaging, and the positivity of anti-21-hydroxylase antibodies observed in our patient are exceptional findings of immune-related PAI. Finally, heightened suspicion of immune-related PAI in case of hyponatremia without hyperkalemia and constant vigilance for diagnosis of rare, but real, reversibility of immune-related PAI are of paramount importance.

Background More than 1.5 billion people are infected with soil-transmitted helminths (Ascaris lumbricoides, hookworm, Strongyloides stercoralis, and Trichuris trichiura), causing an estimated global burden in excess of 3 million disability-adjusted life years. However, the relationship between soil-transmitted helminth infection, adverse health consequences, and beneficial effects of deworming are not well understood. Methodology We pursued a detailed longitudinal clinical evaluation of school-age children to evaluate morbidity associated with soil-transmitted helminth infection and responses to treatment. This exploratory study was embedded into a randomized controlled trial. Overall, 434 children, aged 7–14 years, underwent a detailed medical history, physical examination, stool microscopy for soil-transmitted helminths, and hemoglobin (Hb) measurement at baseline. Medical history and stool examination were repeated at 3 and 18 weeks posttreatment. Additionally, Hb measurement was performed at the 18-week treatment follow-up. Logistic regression was employed to assess clinical factors associated with soil-transmitted helminth infection at baseline, and longitudinal data analysis to examine change in health outcomes following treatment over time. Principal findings All enrolled children were infected with T. trichiura, and randomized into four different treatment interventions. None of the medical history, physical examination, and laboratory (i.e., Hb) findings were associated with A. lumbricoides, hookworm, or S. stercoralis infection at baseline. A composite of physical exam findings for anemia, including pallor of the conjunctiva, nail beds, and palmar creases predicted lower Hb values (-3.8 g/dl, 95% confidence interval (CI): -6.9, -0.6 g/dl). When examining longitudinal trends, we did not find improvements to Hb or face Wong-Baker Likert scale among children with soil-transmitted helminth infection compared to those without infection, although there was a slight trend toward improving Hb values after treating hookworm infection. Conclusions/significance Our study demonstrates the challenges of measuring morbidity in the context of soil-transmitted helminth infection and treatment, thus confirming the mainly subtle morbidity effects of infection., Author summary Soil-transmitted helminth infections frequently affect children and impoverished individuals in low-resource settings and are associated with negative health effects. We attempted to measure morbidity in school-age children from Pemba Island, Tanzania who are infected with soil-transmitted helminths but with relatively low risk for other infections known to cause chronic morbidity, such as malaria and schistosomiasis. We used a composite of clinical history, physical examination, and hemoglobin measurements. Our study was embedded into a randomized controlled trial, and by design, all individuals were infected with whipworms (Trichuris trichiura). A detailed clinical evaluation for morbidity in school-age children was not associated with an infection of roundworms (Ascaris lumbricoides), hookworm, or threadworms (Strongyloides stercoralis) but demonstrated the utility of the clinical examination to detect anemia. Indeed, anemia slightly trended toward resolution after deworming. While many metrics for soil-transmitted helminth infection-related morbidity may have been masked by ongoing deworming campaigns, simple physical exam findings for anemia can be useful to highlight individuals that require further evaluation.

Gorlin syndrome, also known as Nevoid Basal-Cell Carcinoma Syndrome (NBCCS), is an autosomal dominant tumor predisposition syndrome that presents early in life with characteristic congenital malformations and tumors. This syndrome most commonly results from germline mutations of the PTCH1 tumor suppressor gene, which shows high penetrance and great intra and interfamilial phenotypic variability, as well as the SUFU tumor suppressor gene. Recently, the PTCH2 gene has also been implicated as a cause of Gorlin syndrome. Notably, these patients displayed milder phenotypes of Gorlin syndrome when considered against PTCH1 and SUFU-related disease. We report a patient with a novel PTCH2 mutation inherited from his father. The proband displays several minor diagnostic features of Gorlin syndrome, supporting the pathogenic role of this gene. Features in the proband include macrocephaly, a wide face, prominent forehead, hypertelorism/telecanthus, large eyes, cleft lip and palate, thin vertical palmar creases, penoscrotal inversion, and a hyperpigmented spot on his penis. His father displays macrocephaly, several nevi on his back and shoulders, and a single palmar pit on his left hand, raising suspicion for Gorlin syndrome. Whole exome sequence (trio) found that the proband and father are heterozygous for NM_003738.4:c.3347C>T;p.(Pro1116Leu) in exon 21 of PTCH2, found also in his mildly affected brother. This semi-conservative amino acid substitution has been reported in the literature, but its significance is unclear. Notably, the proband, brother, and father do not meet clinical criteria for Gorlin syndrome. However, the clinical findings described in this family support the association between PTCH2 mutations and Gorlin-like phenotypes.

Hyperlipidemic myeloma is a rare and poorly understood variant of multiple myeloma. We report the case of a 53-year-old woman with hyperlipidemic myeloma, skin xanthomas and hyperviscosity syndrome who underwent allogeneic bone marrow transplantation. A comprehensive literature search identified 52 additional cases with plasma cell disease and hyperlipidemia. A detailed analysis revealed several characteristics of these patients as compared to multiple myeloma with normal lipid status: (1) IgA paraprotein was present in the majority (53% vs. 21% in classical multiple myeloma). (2) Skin xanthomas, especially in the palmar creases, elbows, and knees were common (70%). (3) Hyperviscosity syndrome occurred more often (26% vs. 2–6%). While conventional lipid-lowering therapy had only marginal effects, successful anti-myeloma therapy also reduced hyperlipidemia. Analyses of the mechanisms leading to hyperlipidemia documented complexes of paraprotein and lipoprotein in 75% of the 32 cases tested, suggesting an inhibitory role of the paraprotein on lipid degradation. In conclusion, the clinical characteristics, the therapeutic options, and the pathophysiologic mechanisms of hyperlipidemic myeloma are comprehensively reported using the available data from all 53 published cases in the literature., Annals of hematology, 89 (6), ISSN:0939-5555, ISSN:1432-0584

Author(s): Lubala, Toni Kasole; Lumaka, Aime; Kanteng, Gray; Mutesa, Leon; Mukuku, Olivier; Wembonyama, Stanislas; Hagerman, Randi; Luboya, Oscar Numbi; Lukusa Tshilobo, Prosper | Abstract: BackgroundClinical checklists available have been developed to assess the risk of a positive Fragile X syndrome but they include relatively small sample sizes. Therefore, we carried out a meta-analysis that included statistical pooling of study results to obtain accurate figures on the prevalence of clinical predictors of Fragile X syndrome among patients with intellectual disability, thereby helping health professionals to improve their referrals for Fragile X testing.MethodsAll published studies consisting of cytogenetic and/or molecular screening for fragile X syndrome among patients with intellectual disability, were eligible for the meta-analysis. All patients enrolled in clinical checklists trials of Fragile X syndrome were eligible for this review, with no exclusion based on ethnicity or age. Odds ratio values, with 95% confidence intervals as well as Cronbach coefficient alpha, was reported to assess the frequency of clinical characteristics in subjects with intellectual disability with and without the fragile X mutation to determine the most discriminating.ResultsThe following features were strongly associated with Fragile X syndrome: skin soft and velvety on the palms with redundancy of skin on the dorsum of hand [OR: 16.85 (95% CI 10.4-27.3; α:0.97)], large testes [OR: 7.14 (95% CI 5.53-9.22; α: 0.80)], large and prominent ears [OR: 18.62 (95% CI 14.38-24.1; α: 0.98)], pale blue eyes [OR: 8.97 (95% CI 4.75-16.97; α: 0.83)], family history of intellectual disability [OR: 3.43 (95% CI 2.76-4.27; α: 0.81)] as well as autistic-like behavior [OR: 3.08 (95% CI 2.48-3.83; α: 0.77)], Flat feet [OR: 11.53 (95% CI 6.79-19.56; α:0.91)], plantar crease [OR: 3.74 (95% CI 2.67-5.24; α: 0.70)]. We noted a weaker positive association between transverse palmar crease [OR: 2.68 (95% CI 1.70-4.18; α: 0.51)], elongated face [OR: 3.69 (95% CI 2.84-4.81; α: 0.63)]; hyperextensible metacarpo-phalangeal joints [OR: 2.68 (95% CI 2.15-3.34; α: 0.57)] and the Fragile X syndrome.ConclusionThis study has identified the highest risk features for patients with Fragile X syndrome that have been used to design a universal clinical checklist.

Background: The World Health Organization (WHO) estimates that about 2 billion individuals or about 40% of the world’s population suffer from anemia. The population groups with the highest prevalence of anemia are: pregnant women and the elderly (about 50%), infants and children 1 to 2 years (48%), school children (40%), non-pregnant women (35%), and preschoolers (25%). Methods: The study was conducted at MediCiti Institute of Medical Sciences. 1007 children were screened clinically and their blood samples collected and analyzed by hemocue instrument. A complete physical examination was done for all these children. Results: The maximum number of subjects belongs to the nine year old category. Boys constituted 46% of the study population while girls constituted 54% of the study population. Anemia is more prevalent in female subjects than males. In the present study, clinical pallor was present in 16.48% of the subjects. In specific, conjunctival pallor was noted in 9.43%, generalized pallor of skin noted in 4.96% and palmar crease pallor was noted in 1.88% of subjects. The sensitivity and specificity of clinical pallor in diagnosing anemia is 94.02% and 93.71% respectively. The sensitivity and specificity of palmar pallor in diagnosing severe anemia is 100% and 98.21% respectively. Conclusions: The clinical finding of pallor in a child is a reliable indicator of anemia. The presence of clinical pallor in any of the body sites (conjunctival pallor, skin pallor, palmar pallor) is a reliable indicator of anemia. The presence of palmar crease pallor is a good indicator of severe anemia in children. By effective implementation of mid-day meal scheme, the incidence of anemia could be brought down effectively.

To identify demographic, injury-related, or psychologic factors associated with finger stiffness at suture removal and 6 weeks after distal radius fracture surgery. We hypothesize that there are no factors associated with distance to palmar crease at suture removal. Prospective cohort study. Level I Academic Urban Trauma Center. One hundred sixteen adult patients underwent open reduction and internal fixation of their distal radius fractures; 96 of whom were also available 6 weeks after surgery. None. At suture removal, we recorded patients' demographics, AO fracture type, carpal tunnel release at the time of surgery, pain catastrophizing scale, Whiteley Index, Patient Health Questionnaire-9, and disabilities of the arm, shoulder, and hand questionnaire, 11-point ordinal measure of pain intensity, distance to palmar crease, and active flexion of the thumb through the small finger. At 6 weeks after surgery, we measured motion, disabilities of the arm, shoulder, and hand, and pain intensity. Prereduction and postsurgery radiographic fracture characteristics were assessed. Female sex, being married, specific surgeons, carpal tunnel release, AO type C fractures, and greater catastrophic thinking were associated with increased distance to palmar crease at suture removal. At 6 weeks, greater catastrophic thinking was the only factor associated with increased distance to palmar crease. Catastrophic thinking was a consistent and major determinant of finger stiffness at suture removal and 6 weeks after injury. Future research should assess if treatments that ameliorate catastrophic thinking can facilitate recovery of finger motion after operative treatment of a distal radius fracture. Prognostic Level I. See Instructions for Authors for a complete description of levels of evidence

The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

The objective of this study was to report four children having juvenile dermatomyositis (JDM) with inverse Gottron sign along with a brief review of literature of similarly published cases. This is a retrospective review of case records of all children diagnosed with JDM at a single tertiary care centre in North India. Children who were found to have Gottron papules over palmar surface were identified. A total of 127 children were diagnosed with JDM in the last 24 years (1994–2017). Out of these 127 patients, 4 were found to have Gottron papules over palmar surface. The median age at presentation of these four patients was 9 years (range 8–10). The distribution for inverse Gottron papules was over the palmar aspect of proximal and distal interphalangeal joints, palmar creases and lateral aspects of proximal and distal interphalangeal joints. One child also had features of systemic scleroderma overlap and one patient had patchy lipoatrophy. ANA were positive in two patients. High-resolution computed tomography (HRCT) chest was carried out in all four patients and three of them were found to have changes consistent with interstitial lung disease. Prednisolone was used for all patients, methotrexate in three, azathioprine in two and cyclophosphamide in one patient. Inverse Gottron papule is a hitherto uncommonly recognized cutaneous manifestation of JDM. The clinical implications of this sign are yet not clear in children with JDM. Children with JDM with palmar Gottron papules may be screened for ILD as this may change their management and prognosis.

Purpose Congenital palmar nail (distal dorsal dimelia [dDD]) of the hand is a rare malformation most commonly affecting the little finger. The purpose of this report was to review the features and associations of this rare disorder and discuss the suspected underlying etiology in light of our current understanding of developmental biology. Methods In this retrospective cohort study from 3 practices, we describe our collective experience and review the reported literature on this disorder both as an isolated condition and in conjunction with other anomalies. Results We examined 15 fingers with dDD, 5 of which involved little fingers. We also found dDD in 6 cases with radial polydactyly (preaxial polydactyl type II [PPD2]) and in 1 case of cleft hand involving digits adjacent to the clefted web space (the index and middle fingers). Cases of little finger dDD were also associated with prominent clefting of the adjacent web space in 4 of 5 cases. All cases had stiffness of the interphalangeal joints and loss of palmar creases consistent with dorsalization of the palmar aspect of the digit. When combined with 63 fingers reported in the literature with dDD, 3 patterns were evident. The most common form occurred in little fingers (n = 50; 64%; dDDu). The next most common form was reported in association with cleft hands (n = 16; 21%; dDDc). Radial digits in association with either radial polydactyly (PPD2) or radial longitudinal deficiency were also susceptible to dDD (n = 12; 15%; dDDr). Conclusions Congenital dDD is a disturbance of terminal dorsal-ventral digit patterning. The distribution of this condition with little fingers, clefting, and altered radial digit formation (PPD2 or radial longitudinal deficiency), as well as recent genetic and animal studies, suggests that dDD and altered dorsal-ventral patterning are linked to abnormal apical ectodermal ridge boundary formation. Type of study/level of evidence Diagnostic IV.

Summary Background The ideal flap for volar defects on the digits should provide glabrous skin, maintain length, be sensate and supple enough to allow unimpeded motion of the joints. When local flap options are either inadequate or unavailable, this constitutes a challenge that usually requires free tissue transfer. We describe our experience of the use of the free transfer of glabrous skin based on the superficial palmar branch of the radial artery (SUPBRA) for digital (volar) reconstruction. Methods Between May 2005 and June 2011, we used this flap to reconstruct digital defects in 13 patients with mean age of 40.1 years (range 18–68 years) and a follow up range from 0.7 to 3.5 years (mean 1.5 years). The dimension of the flaps ranged from 2 × 5cm to 2 × 10 cm. The indications for surgery included traumatic loss of tissue/amputation, severe pulp space infection, dog bite injury, crush injury/ischaemic loss and salvage of failed local flap. The donor site was closed directly in all cases. Results There were no flap failures. All wounds healed with good functional outcomes with ideal tissue match, minimal donor site morbidity and return of protective sensation despite no neurorrhaphy performed except in one patient. Conclusion The free SUPBRA flap has many advantages, approaching ideal replacement for the volar tissues of the fingers, excellent tissue match, minimal donor site morbidity with an excellent camouflaged scar in the mid palmar crease, one operation field, non sacrifice of a major vessel, can be made ‘sensory', neurotises well and offers a single site for rehabilitation. We believe that the free SUPBRA flap is a very reliable and useful option in the armoury of the reconstructive hand surgeon.

Serdaroglu Beyazal, Munevver/0000-0001-5903-5708 WOS: 000348146300008 PubMed: 25642030 [Purpose] the aim of the present study was to investigate and compare the effects of whirlpool bath and neuromuscular electrical stimulation on complex regional pain syndrome. [Subjects and Methods] Sixty outpatients (30 per group) with complex regional pain syndrome participated. They received 15 treatment 5 days per week for 3 weeks. the outcome measures were the visual analogue scale for pain, edema, range of motion of the wrist (flexion and extension), fingertip-to-distal palmar crease distance, hand grip strength, and pinch strength. All parameters were measured at baseline (week 0) and at the trial end (week 3). [Results] There were significant improvements in all parameters after therapy in both groups. the whirlpool bath group showed significantly better improvements in the visual analogue score, hand edema, hand grip strength, wrist range of motion (both flexion and extension), fingertip-to-distal palmar crease distance, and the three-point and fingertip pinch strengths than the neuromuscular electrical stimulation group; however, the lateral pinch strengths were similar. [Conclusion] Both whirlpool bath and neuromuscular electrical stimulation are effective in the treatment of complex regional pain syndrome, but the efficacy of the whirlpool bath treatment was better.