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Background: Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome is caused by bi-allelic pathogenic variants in the PEX1 or PEX6 gene. Only few patients with this syndrome have been reported. We hereby describe two siblings with genetically confirmed Heimler syndrome and provide imaging of the ocular phenotype., Materials and Methods: The medical records of the siblings were reviewed retrospectively., Results: Both brother and sister were diagnosed with SNHL and amelogenesis imperfecta of the permanent teeth; one of the affected siblings also had nail abnormalities. Both patients presented to the ophthalmology department with suboptimal visual acuity, fundus abnormalities and intraretinal cystoid spaces. Full-field electroretinogram revealed a cone-rod dysfunction. A genetic analysis revealed a homozygous likely pathogenic variant c.3077 T > C (p.Leu1026Pro) in the PEX1 gene in both siblings. The parents are heterozygous carriers of the variant., Conclusion: We recommend performing regular ophthalmic examination in patients with Heimler syndrome since the ophthalmic manifestations can manifest later in life. Our patients presented with cone-rod dystrophy and intraretinal cystoid spaces. Review of the literature shows that the ocular phenotype can be very variable in patients with Heimler syndrome.

Objectives: Cutaneous involvement is an extra-articular manifestation of rheumatoid arthritis (RA). This includes nail abnormalities, which are often overlooked. We described nail findings in RA patients currently attending an early arthritis cohort (n=145), and associated them with disease activity and/or damage, as well as patient-reported outcomes., Methods: A standardised nail examination was performed in 122 patients (84.1% of the cohort), concomitant to the rheumatic assessment. Disability, quality of life and perceived nail-related health were also assessed. Nail findings and their location were recorded and classified according to standardised definitions. Logistic and linear regression models were used to investigate predictors of nail findings and to identify the impact of toenail findings on disability, which was evaluated with the HAQ. Patients consented to participate., Results: Patients were primarily middle-aged females, with median follow-up of 9 years, and had disease under control. Most patients (62.3%) had at least one nail finding and these patients scored lower their nail-related health. The median (IQR) of findings/abnormalities per patient was 3 (2-5) and the number of nails affected per patient was 10 (2-12). Age (OR: 1.04, 95%CI: 1.007-1.074) and erosive disease (OR: 2.26, 95%CI: 1.1-5.1) were associated with nail findings. Toenail involvement was consistently associated with HAQ score out of normal range (OR=3.4, 95%CI=1.24-9.35, p=0.02). There was a linear association between the number of toenails affected and the HAQ score., Conclusions: Nail abnormalities are common and heterogeneous findings in RA patients; they are associated with erosive damage and impact disability.

Many rheumatic diseases may present with an inflammatory joint syndrome, affecting the small joints of the hands, of which rheumatoid (RA) and psoriatic arthritis (PsA) being one of the most common. The aim of this systematic review was to focus on the literature evidence regarding the added value of ultrasound (US) of the hand in the differential diagnosis between RA and PsA. Pubmed and Scopus were searched to identify original manuscripts, published in the last 20 years utilising ultrasonography to reveal specific hand US patterns. Studies were eligible if they: (1) included adults (over 18 years) with a diagnosis of RA/PsA; (2) were published in the English language; (3) were published in peer-reviewed journals; (4) included description of the US machine; (5) used US for assessment of hand joints, periarticular tissues and nails. The search yielded 322 published studies, of which 16 were deemed relevant and were included in the present study. Overall, there was heterogeneity with regard to the pathology examined. Based on the included studies analysis, hand US patterns have several basic features to be considered-location of gray scale (GS) inflammatory findings, involvement of periarticular soft tissue, distribution and extent of Doppler signal (intra- and peri-articular), bone reaction, shape and location of erosions, involvement of tendons without synovial sheath, involvement of enthesis and nail abnormalities. Future research could focus on determining the sensitivity and specificity of the different US detected hand patterns in patients with early arthritis.

Anonychia refers to the absence of nail plates owing to an autosomal dominant or recessive inheritance. Congenital anonychia is a rare condition that may be associated with other ectodermal or mesodermal malformations like epidermolysis bullosa, (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome and Iso-Kikuchi syndrome. Here, we report 3 cases with anonychia congenita appearing in different generations of a single family in Kingdom of Saudi Arabia.

Nail abnormalities after allogeneic haematopoietic stem cell transplantation procedure (alloHSCT) are often reported. Usually, they are related to chronic graft-versus-host disease (cGvHD). So far, only clinical manifestations of selected nail abnormalities have been described, without the presentation of dermoscopic images. In this article, we present morphologic and dermoscopic manifestations of potential non-infectious nail abnormalities in patients after alloHSCT procedure based on reviewed literature and our own experience with dermoscopic iconography. In majority of studies published till now, nail changes are not connected to severity of other cGvHD symptoms; however, e.g. the presence of pterygium inversum unguis may be an indicator of lung dysfunction. As nail changes may be an early sign of cGvHD and always present in association with other manifestations, routine clinical assessment should include nails examination. Knowledge of possible presentation of nail involvement after alloHSCT may be valuable for treating physician., (© 2018 European Academy of Dermatology and Venereology.)

Background: Onychomycosis (OM) and traumatic onychodystrophy (OD) are common causes of toenail changes. A clinical diagnosis is often impossible without mycology. Dermoscopy is helpful in this setting but yet underexplored. Prospective comparative studies between OM and OD onychoscopic findings have not been previously performed., Objectives: We sought to determine distinguishing dermoscopic presentations of OM and traumatic OD., Methods: We performed a prospective, observational study including patients presenting with ≥1 toenail onychodystrophy. All underwent onychoscopy, clinical and mycological examination. Based on these results, patients received a final diagnosis of OM or OD. Dermoscopic presentations of OM and OD patients were classified in patterns and compared., Results: In all, 110 cases of OM and 82 of traumatic OD were compared. Statistical analyses revealed that the distal pulverized and the irregular spiked macular dermoscopic patterns were predictors of an OM diagnosis. The regular macular, the non-classifiable, the total and partial homogeneous background dermoscopic patterns correlated with traumatic OD diagnosis., Conclusions: We demonstrated that OM and traumatic OD have distinctive onychoscopic presentations. Dermoscopy may be an important ancillary tool to guide their differential., (© 2018 European Academy of Dermatology and Venereology.)

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. Here, we report a novel case with the syndrome with a novel insertion mutation in SETBP1. We also present a review of SGS cases, and first revise diagnostic criteria of SGS based on clinicalfindings and/or SETBP1 mutation worldwide. A revised diagnostic criteria and typing of SGS can be determined. Type I (complex and classic type) SGS patients present a development delay and typical facial features (prominent forehead, midface retraction, and short and upturned nose) associated with hydronephrosis or two of the characteristic skeletal anomalies (a sclerotic skull base, wideoccipital synchondrosis, increased cortical density or thickness, and broad ribs). Type II (middle type) patients show development delay and the distinctive facial phenotype (midface retraction, short and upturned nose), lacking both hydronephrosis and typical skeletal abnormalities, with existence of SETBP1mutation. Type III (simple type) patients with SETBP1 alteration show their major symptom is development delay, in which expressive language delay is the most striking feature. Central nervous system involvement with development delay in which expressive language delay is much more obviously affected is the most prominent feature of SGS. There is another indication that severity of phenotype of SGS may be inversely correlated with degree of SETBP1 alteration, besides gain-of-function or dominant-negative effects in SETBP1 alteration causing SGS.

Background: Acro-osteolysis (AO) involves partial or total destruction of the distal phalanges of the fingers or toes. The range of forms of AO is extremely wide. A distinction is generally made between the acquired forms and the genetic and idiopathic forms. Herein we report a case of idiopathic transverse single-finger AO associated with onychopathy., Patient and Methods: A 48-year-old woman consulted for a nail lesion involving brachyonychia in the right index finger alone (pseudo-clubbing appearance of the finger). The remainder of the clinical examination was normal, particularly in terms of neurological and dermatological investigations. Standard x-rays revealed transverse osteolysis of the middle third of the distal phalanx, occurring solely in the right index finger., Discussion: While certainty regarding diagnosis of AO depends upon radiological findings, the radiological appearance is not specific. Two subgroups suggesting aetiological diagnosis may be distinguished: transverse AO with banding and longitudinal AO. With transverse AO, the diaphysis of the distal phalanx presents osteolysis with banding, but with sparing of the base of the band (pseudo-fracture appearance); this appearance is suggestive of toxic causes, congenital familial conditions or repetitive micro-trauma. Upon x-ray examination, the longitudinal forms exhibit concentric resorption of the band and these forms are more often seen in a setting of neurological, vascular or metabolic disorders. The associated nail involvement frequently present helps clarify the diagnosis, with nail plate shape being dependent on the integrity of the underlying bone., Conclusion: Herein we report the first case of transverse AO in a single finger associated with brachyonychia, and with no discernible cause., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.

This study reports on two individuals with Temple-Baraitser syndrome, manifesting typical hallux and pollex findings, global developmental delay, and seizures. In the five previous cases identified to date, consistent craniofacial and osseous characteristics have been observed. The children described herein exhibit minor differences within this phenotype and are older, highlighting the phenotypic variability and natural history of the clinical and radiographic findings.

Witkop tooth and nail syndrome is a rare autosomal dominant ectodermal dysplasia manifested by hypodontia and nail dysplasia. Tooth shape may vary, and conical and narrow crowns are common. Mandibular incisors, second molars, and maxillary canines are the most frequently missing teeth. Nail dysplasia affects the fingernails and especially the toenails and is often more severe in childhood. Nails may be spoon-shaped, ridged, slow-growing, and easily broken. We examined an Eastern Mediterranean family in which three siblings (two girls, one boy) had this syndrome. The severity of finger and toenail anomalies varied. The children's mother had no Witkop-related abnormalities, but their father was reported to have dental and nail anomalies. Early intervention is recommended to manage orofacial disfigurement and avoid negative social consequences for these children., (© 2010 Wiley Periodicals, Inc.)

We report the surgical treatment of two patients who had rare complex anomalies of the foot and hand. The nails of their great toes curved dorsally as if they were standing on the nail matrix. They had difficulty in flexing the interphalangeal joint of the great toe. Their hands showed multiple and sporadic brachymetacarpia and brachyphalangia.

We report a 52-year-old woman with micronychia of the index fingers. Radiographic examination revealed a Y-shaped bifurcation of the distal phalanx of both index fingers. She was diagnosed with congenital onychodysplasia of the index fingers (COIF) or Iso-Kikuchi syndrome. COIF is a rare condition characterized by a variety of nail dysplasia of the index fingers. Five criteria characterize COIF: congenital occurrence, unilateral or bilateral index finger involvement, variability in nail appearance, hereditary involvement and frequently associated bone abnormalities. Micronychia, polyonychia, anonychia, hemionychrogryphosis and malalignment are the observed index finger defects. Most cases have been described in Japan, and to our knowledge, this is the first case of COIF reported in South America.

We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia., (Copyright (c) 2008 Wiley-Liss, Inc.)

Enchondroma is the second most common benign bone tumour and the most common tumour affecting the bones of the hand. In the hand, they are most frequently found in the proximal phalanges. The case presented here is that of an expansive enchondroma in the distal phalanx of the thumb, which is rare. By operative treatment (curettage, reduction plastic and cancellous bone allografting) we were able to correct the deformity of the distal phalanx and the thumbnail almost completely, as well as improving the stability and achieving a good cosmetic result.

A congenital curved nail of the fourth toe (NIM 219070) is a rare nail deformity with no other associated abnormalities. Three patients with this congenital anomaly are reported here. Radiologic examination in all three revealed distal symphalangism of the fourth toes bilaterally. The clinical manifestations in these patients included white discoloration of the proximal nails and hyperkeratotic tylosis.

Although pincer nail deformity (PND) treatment is time consuming independent of whether it is based on surgical or conservative procedures, long lasting beneficial results are found only after surgical intervention. Typically destruction of the lateral matrix horns either surgically or by phenol cauterization or even ablation of the matrix is performed. In the past these procedures mainly aimed at relief from pain; however, currently more patients ask for the preservation of the nail unit and a good cosmetic outcome. Today reconstructive results that meet the patient expectations are available. An adapted novel surgical method which will preserve the matrix horns while correcting the shape of the phalanx and preventing renewed adhesion of the nail bed to the phalanx is presented. Therefore the restoration of a normal width-to-length ratio of the nail plate with a cosmetically appealing result becomes possible. Surgical steps in an affected right toenail are presented.

Anonychia is an autosomal recessive disorder characterized by the congenital absence of finger- and toenails. In a large German nonconsanguineous family with four affected and five unaffected siblings with isolated total congenital anonychia, we performed genomewide mapping and showed linkage to 20p13. Analysis of the RSPO4 gene within this interval revealed a frameshift and a nonconservative missense mutation in exon 2 affecting the highly conserved first furin-like cysteine-rich domain. Both mutations were not present among controls and were shown to segregate with the disease phenotype. RSPO4 is a member of the recently described R-spondin family of secreted proteins that play a major role in activating the Wnt/ beta -catenin signaling pathway. Wnt signaling is evolutionarily conserved and plays a pivotal role in embryonic development, growth regulation of multiple tissues, and cancer development. Our findings add to the increasing body of evidence indicating that mesenchymal-epithelial interactions are crucial in nail development and put anonychia on the growing list of congenital malformation syndromes caused by Wnt-signaling-pathway defects. To the best of our knowledge, this is the first gene known to be responsible for an isolated, nonsyndromic nail disorder.

'Hereditary painful callosities' defines an autosomal dominant nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points. Two unrelated patients with hereditary painful callosities with other familial acral abnormalities are reported. To our knowledge subtotal congenital leukonychia and symmetrical bone duplication of great toes have not been previously described in association with this disorder.

Background: The authors made use of echograms for the observation of the nail matrix., Objective: To inspect the nail matrix and identify what causes nail plate deformities., Methods: A 30-MHz frequency high-resolution B-mode was applied to normal and damaged nails., Results: Clear shadows of underlying nail plates were observed beneath the proximal nail fold. Some cases with nail plate deformities showed damaged sub-proximal fold nail plates, which would indicate nail matrix deformities., Conclusion: The echograms had diagnostic value to nail plate deformities. If a normal echogram is obtained at the proximal nail fold, the nail bed will be the place at which the nail deformities occur. If the echogram indicates any sub-proximal fold nail plate changes, the damaged nail matrix may be attributable to the nail deformities. Echograms also gave clear echoic shadows of subungual tumors. That contributed to identifying the infiltrating border of subungual malignant melanomas around the nail matrix noninvasively.

Symbrachydactyly involving both the hand and foot is extremely rare. Two such cases are described. The first patient was a two-month-old female with symbrachydactyly of the left hand and foot. The second patient was a one-year-old female with symbrachydactyly of the right hand and foot. No other abnormalities were identified. The diagnosis of this congenital anomaly is discussed and the literature reviewed.

A 55-year-old patient who clinically presented with a Heberden arthrosis and gryphosis of the second and fourth finger nails of the left hand was admitted to our outpatient department under the tentative diagnosis of psoriatic arthritis. Nature of nail damage and combination of clinical findings suggested the diagnosis of a pincer-nail syndrome. The pathogenesis of this rare disease is not yet clear. Its complete clinical picture includes gryphosis of finger and toe nails in combination with acroosteolytic shortening of the end-phalanx and destructive arthrosis of the terminal joints of toes and fingers. Since deformation of the nail, which sometimes includes inflammation of the nail bed, may cause marked pain, surgical intervention with excision of the nail and, if necessary, revision of the nail bed has to be performed in most cases.

This paper rresents a clinical, histological and microradiographic study of three patients with pachyonychia congenita with special reference to oral manifestations. The patients, who are relatives, exhibited thickening of finger- and toe-nails, follicular keratosis, palmoplantar keratosis and hyperhidrosis, oral leukokeratosis, and natal teeth. It is stated in the discussion that natal teeth and oral leukokeratosis may constitute the earliest clinical manifestations of pachyonychia congenita and that they appear to accur earlier than nail lesions. When there is a hereditary disposition for pachyonychia congenita, it is important to inspect the oral cavity at an early stage.

An infant born without toenails and without the middle and distal phalanges of the toes was otherwise normal, on clinical and radiological examination. This is the second case of this entity to be described. It is speculated that an environmental insult at the critical period of fetal toe development may be the cause of the anomaly, but a genetic factor cannot be excluded.

We report the first German case of Iso-Kikuchi syndrome, which is characterized by a congenital onychodysplasia commonly involving the index fingers, but not infrequently also the neighbouring fingers, and typical bony alterations of the corresponding terminal phalanges. This is also the first report of associated great toe anomalies.

Two families with congenital nail anomalies are reported. The nail covered not only the dorsal but also some of the palmar aspect of the distal phalanx. The ungual phalanges of the affected fingers were lacking in the crescent-shaped cap and had a blunt Y-shaped bony projection. The anomalies may have been transmitted by an autosomal recessive gene.

Special attention has been given to the differences between subungual exostosis and subungual osteochondroma. Once a diagnosis has been made and symptoms persist, complete excision of the lesion with curettage of the base is the treatment of choice for both conditions. Subungual hematoma is an exquisitely painful condition that usually results from trauma, but may also be caused by systemic pathology, medication and drug reactions, and aging. Prompt decompression will significantly reduce pain and further damage to the nail bed and matrix. Radiographs must be taken because of the high incidence of associated distal phalangeal fracture. Patients must be warned that onycholysis, transient and permanent nail deformity, and infection are possible complications, even with the best treatment.