Search

Background: Congenital ichthyoses sometimes present with severe skin symptoms that significantly affect the patient's quality of life (QOL). Symptomatic treatments are the mainstay therapies, and their efficacy is limited and inadequate., Objective: To assess the disease severity and QOL in patients with congenital ichthyoses, and to investigate the effectiveness of current treatments., Methods: We conducted a questionnaire-based Japan-wide epidemiological survey of patients with congenital ichthyosis who received medical care from 1 January 2016-31 December 2020. Effectiveness of past and current treatments was assessed. The outcomes were the physician's assessment, disease severity assessed using the clinical ichthyosis score (CIS), and the disease burden estimated using the Dermatology Life Quality Index (DLQI), the Children's Dermatology Life Quality Index (CDLQI), and the Infants' Dermatitis Quality of Life Index., Results: One hundred patients with 14 ichthyosis subtypes from 47 institutes were included in the final analysis. The CDLQI score showed a positive correlation with CIS (rs = 0.59, p = 0.004), while the DLQI score showed no significant correlation (rs = 0.13, p = 0.33). All existing medications were effective for many patients. Etretinate improved QOL and reduced CIS, but side effects including bone growth retardation were reported. Decreased treatment willingness was observed in patients with very low and very high CIS., Conclusion: QOL scores were found to correlate with CIS in children, but not in adults. Considering the adverse events, it is speculated that etretinate is not indicated for children with mild cases. Petrolatum was the most commonly used medication, even in patients who were reluctant to receive treatment., Competing Interests: Conflicts of interest The authors have no conflict of interest to declare., (Copyright © 2023. Published by Elsevier B.V.)

Background: High rates of adverse mood/neurodevelopmental traits are seen in multiple dermatological conditions, and can significantly affect patient quality of life. Understanding the sex-specific nature, magnitude, impact and basis of such traits in lesser-studied conditions like ichthyosis, is important for developing effective interventions., Aim: To quantify and compare relevant psychological traits in men with X-linked ichthyosis (XLI, n = 54) or in XLI carrier women (n = 83) and in patients with ichthyosis vulgaris (IV, men n = 23, women n = 59) or psoriasis (men n = 30, women n = 122), and to identify factors self-reported to contribute most towards depressive, anxious and irritable phenotypes., Methods: Participants recruited via relevant charities or social media completed an online survey of established questionnaires. Data were analysed by sex and skin condition, and compared with general population data., Results: Compared with the general population, there was a higher rate of lifetime prevalence of mood disorder diagnoses across all groups and of neurodevelopmental disorder diagnoses in the XLI groups. The groups exhibited similarly significant elevations in recent mood symptoms (Cohen d statistic 0.95-1.28, P < 0.001) and neurodevelopmental traits (d = 0.31-0.91, P < 0.05) compared with general population controls, and self-reported moderate effects on quality of life and stigmatization. There were strong positive associations between neurodevelopmental traits and recent mood symptoms (r > 0.47, P < 0.01), and between feelings of stigmatization and quality of life, particularly in men. Numerous factors were identified as contributing significantly to mood symptoms in a condition or sex-specific, or condition or sex-independent, manner., Conclusion: We found that individuals with XLI, IV or psoriasis show higher levels of mood disorder diagnoses and symptoms than matched general population controls, and that the prevalence and severity of these is similar across conditions. We also identified a number of factors potentially conferring either general or condition-specific risk of adverse mood symptoms in the three skin conditions, which could be targeted clinically and/or through education programmes. In clinical practice, recognizing mood/neurodevelopmental problems in ichthyosis and psoriasis, and addressing the predisposing factors identified by this study should benefit the mental health of affected individuals., (© 2022 The Authors. Clinical and Experimental Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)

Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythroderma, and disabling features affecting the skin (palmoplantar keratoderma, fissures, pain, itch), eyes, ears, and joints. Disease severity and chronicity, patient disfigurement, and time and costs required for care impose a major burden on quality of life. This multicentre cross-sectional study investigated the impact of ARCI on quality of life of patients and families, using the Dermatology Life Quality Index (DLQI), the Children DLQI (CDLQI) and Family Burden of Ichthyosis (FBI) questionnaires. Disease severity was assessed by a dermatologist. A total of 94 patients were recruited, of whom 52 (55.3%) children. Mean age was 20.1 (median 13.5) years. The mean CDLQI/DLQI score was 7.8, and 21 patients scored >10, indicating a major impairment in quality of life: symptoms, feelings and treatment problems were the most affected domains of quality of life. FBI showed a major repercussion on psychological factors and work. The results of this study highlight the impact of ARCI on specific aspects of patient and family life, underlining the need for psychological support.

Background: The outbreak of the pandemic Coronavirus disease 2019 (COVID-19), caused by a novel coronavirus named Severe acute respiratory syndrome Coronavirus-2 (SARS-CoV-2), affecting a high number of patients in Italy, forced a great number of doctors, even dermatologists, to work in the first lines in the dedicated departments. We analyzed the features and the incidence of dermatological issues emerged during the hospitalization due to COVID-19 and absent before., Methods: All the SARS-CoV-2 positive patients hospitalized in Celio Military Hospital - COVID hub no-intensive care wards from March 16, 2020 until May 4, 2020 were evaluated by dermatologists several times during the hospital stay., Results: Ninety-six patients (15 civilians and 81 Italian servicepeople) were enrolled: 34 (35.4%) patients developed cutaneous manifestations; 15 (16.0%) suffered from skin dryness; 5 (5.2%) irritant contact dermatitis; 4 (4.2%) seborrheic dermatitis; 4 (4.2%) morbilliform rashes; 3 (3.1%) petechial rashes and 3 (3.1%) widespread hives., Conclusions: A deeper knowledge of cutaneous manifestations in military and civilian hospitalized COVID-19 patients could suggest more effective treatments to win the battle against SARS-CoV-2.

Background: Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders., Objective: To estimate the number of patients with ARCI and IS in Japan and clarify the clinicoepidemiologic features of these diseases., Methods: We performed a nationwide survey of patients treated for ARCI or IS during January 2005-December 2009. We developed diagnostic criteria and conducted a primary survey in a stratified random sample of Japanese hospitals to quantify the number of outpatients and inpatients with ARCI or IS. We performed a secondary survey of clinicoepidemiologic features in positive cases., Results: The estimated number of patients receiving treatment for ARCI and IS during 2005-2009 was 220 (95% confidence interval [CI] 180-260). The estimated disease distribution was as follows: 95 (95% CI 80-110) patients with nonbullous congenital ichthyosiform erythroderma, 30 (95% CI 20-40) with lamellar ichthyosis, 15 (95% CI 10-20) with harlequin ichthyosis, and 85 (95% CI 50-120) with IS., Limitations: Patients with a mild case of the disease might not have visited a dermatology department, potentially causing underestimation of affected patients., Conclusion: We report the estimated number of patients with ARCI and IS in Japan and sex differences in the age distribution., (Copyright © 2018 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

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., (© 2018 The Authors | Journal compilation © Blackwell Verlag GmbH, Berlin.)

Background: Grover disease is an acantholytic disorder that typically occurs on the trunk of older individuals, primarily white men, in association with heat and xerosis. Cases with extensive and/or atypical distributions have been reported., Objective: To review the literature characterizing the population, morphology, associations, and disease course of extensive or atypical eruptions of Grover disease., Methods: A systematic literature review identified 50 articles with 69 cases., Results: Patient age ranged from 14 to 83 years (mean age, 56 ± 15), with 71% of patients being male and 29% female. Areas of involvement included the trunk (90%), upper and lower extremities (63% and 61%, respectively), face/scalp (28%), neck (21%), groin (11%), buttocks (8%), and axillae (6%). The most common associations included a history of malignancy (61%), recent chemotherapy (38%), and recent transplant (20%)., Limitations: Extensive cases with typical clinical morphology may not have been examined by biopsy or reported; thus, this review may have publication bias toward more severe or atypical presentations., Conclusions: Greater variability exists among patients affected by extensive or atypical Grover disease than among those with typical disease. Malignancy is a common association, and there may be a role for immunosuppression in the pathogenesis of extensive or atypical Grover disease., (Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

Background: Pressure ulcers are a serious health problem in medical and nursing care. Therefore, effective prevention is crucial. Major pressure ulcer risk factors have been identified but the particular role of dry skin (xerosis cutis) is unclear., Objectives: To investigate possible associations between dry skin and pressure ulcers focusing on the sacrum/trochanter and at heel/ankle skin areas., Design: Two multicenter cross-sectional studies., Settings/participants: In 2014 and 2015 thirty nursing homes and thirteen hospitals in Germany participated. In total 3837 participants were included. Mean age was 76.1 (SD 15.5) years., Methods: Skin assessments and data collection were performed by trained nurses based on a standardized data collection form. Descriptive comparisons and multilevel logistic regressions predicting pressure ulcers at sacrum/trochanter and ankle/heel were conducted., Results: The prevalence of skin dryness at the trunk was significantly higher for subjects with pressure ulcers category 2+ at the sacral area compared to without (39.0% vs. 24.4%, p=0.010). Adjusted to demographic variables, mobility and type of institution dry skin at the trunk was no longer associated with pressure ulceration (OR 1.11 (95% CI 0.62-2.00)). 71.9% of patients with heel/ankle pressure ulcers category 2+ were affected by dry skin at legs or feet, compared to 42.8% of subjects without pressure ulcers (p<0.001). In the adjusted analysis the OR was 1.85 (95% CI 0.83-4.14)., Conclusions: Study results indicate that dry skin at the feet may be considered as a risk factor for heel pressure ulcer development. Skin dryness may be less important for sacral pressure ulcers. Therefore, the variable skin status should be better defined in future studies and pressure ulcer risk models. Results further support differences in pressure ulcer aetiologies between anatomical locations., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Background: Certain dermatologic conditions are known to show seasonal variations in frequency, the reasons for which are unclear but in some cases may be attributable to changes in ambient weather conditions., Objectives: The current study was conducted to determine whether seasonal trends might exist for dermatologic conditions including erythema multiforme, guttate psoriasis, erythema dyschromicum perstans (ashy dermatosis), pityriasis lichenoides, and pityriasis rosea., Methods: Data were derived from a 15-year retrospective review of electronic records from a large dermatopathology laboratory located in the mid-Atlantic region of the USA. Numbers of diagnoses per month and "per season" were determined. Pairwise comparisons of seasonal data were made using two-sample t-tests with significance set at P ≤ 0.05., Results: Perniosis (chilblains) was significantly more common in winter and spring (P = 0.001). Hand, foot, and mouth disease was statistically more prevalent in summer and autumn (P = 0.028). Erythema multiforme was most common in spring and summer (P = 0.004). Grover's disease was most common in winter and spring (P = 0.000039). Guttate psoriasis was non-significantly more common in winter and spring (P = 0.076). No statistically significant seasonal variation was found for erythema dyschromicum perstans (P = 0.899), pityriasis rosea (P = 0.727), or pityriasis lichenoides (P = 0.366)., Conclusions: This study found statistically significant seasonal trends for several dermatologic conditions. The study was primarily epidemiologic and was not intended to address histopathologic differences that might underlie the seasonal variations observed. However, further investigation of seasonal differences in the histopathology of erythema multiforme may prove interesting., (© 2016 The International Society of Dermatology.)

Background: Maintaining and improving skin health of patients and long-term care receivers is a widely agreed upon goal in health and nursing care. Care dependent and aged persons have a high predisposition to develop dry skin conditions., Objectives: The aim of this study was to estimate the prevalence and severity of skin dryness in hospitals and nursing homes and to identify person- and health-related variables associated with this skin condition., Design: The study was part of a bigger annual multicentre descriptive cross-sectional prevalence study of health problems., Settings/participants: Fourteen nursing homes and six hospitals in Germany participated in this study in 2014. A total of 1710 subjects (n=1091 long-term care residents and n=619 in-patients) were included., Methods: Skin assessments were conducted and skin dryness was measured using the Overall Dry Skin Score. Mobility was measured using the respective item of the Care Dependency Scale. Demographic, functional and physiological parameters were compared between subjects with and without dry skin. A logistic regression model predicting skin dryness was created., Results: The prevalence of skin dryness was 48.8% (95% CI 46.5-51.2). Nursing home residents were most often affected (52.6%; 95% CI 49.6-55.6) compared to in-patients (42.2%; 95% CI 38.3-46.1). The skin of feet and legs were most often affected by skin dryness (42.9%) compared to other skin areas. Being older (OR 1.01; 95% CI 1.01-1.02), having pruritus (OR 14.21; 95% CI 8.00-22.95), oncological (OR 1.95; 95% CI 1.30-2.91), musculoskeletal diseases (OR 1.31; 95% CI 1.04-1.64), being skin care independent (OR 0.48; 95% CI 0.32-0.70) were the strongest covariates for the presence of dry skin in the multivariate model., Conclusions: Based on a large sample results indicate that approximately every second nursing home resident and hospital in-patient are affected by dry skin. Severe forms occur more often in hospital in-patients compared to nursing home residents. Skin care interventions to tackle dry skin are recommended particularly for hospital patients and nursing home residents who are affected by pruritus or oncological diseases, who are in need of washing/bathing assistance, and who have musculoskeletal diseases., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

In this study, 100 HIV-positive cases (63 men, 37 women) with skin findings were included. The mean CD4 T cell count was 253 cells/mm(3). A total of 235 dermatological manifestations were seen. The common infectious dermatoses were candidiasis (21%), Staphylococcal skin infections (20%), dermatophytoses (14%) and herpes zoster (6%). Among the non-infectious dermatoses were papular pruritic eruptions (20%), xerosis/ichthyosis (20%) and seborrhoeic dermatitis (16%). Statistically significant association (p < 0.05) with CD4 T cell count was seen in pyodermas, dermatophytoses and papular pruritic eruptions. Adverse drug reactions, diffuse hair loss, straightening of hairs and pigmentary changes were also noted. Although there was an absence of Kaposi's sarcoma in our study, a case of verrucous carcinoma of penis was noted., (© The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.)

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires were completed and returned (response ratio: 29% for children and 71% for adults). A negative impact of ichthyosis was obvious in terms of domestic life (skin care, housework, clothing, etc.), educational/professional lives (rejections by other children, workplace discrimination, absenteeism, etc) and for leisures/sports activities. The patient's economical resources were also heavily impacted by ichthyosis with important out-of-pocket expenses.

Background: To date, few studies have investigated serum vitamin D status in patients with inherited ichthyosis. The aim of this study was to determine the prevalence of vitamin D deficiency (defined as serum level <10 ng/mL) in a French cohort of patients and to identify associated risk factors., Methods: This was a prospective observational study performed in a hospital reference center with expertise for rare skin diseases. Patients' clinical characteristics were recorded. Serum concentration of 25-hydroxyvitamin D and parathyroid hormone were determined. For patients with vitamin D deficiency, serum calcium, serum phosphorus and bone mineral density were also investigated. Comparisons between groups (25-hydroxyvitamin D <10 ng/mL versus ≥10 ng/mL) were conducted by univariate and multivariate logistic regression., Results: Of the 53 included patients, 47 (88.7%) had serum 25-hydroxyvitamin D below the optimal level of 30 ng/mL: 18 (34%) had vitamin D sufficiency, 14 (26.4%) had vitamin D insufficiency, and 15 (28.3%) had vitamin D deficiency. A negative linear correlation was found between 25-hydroxyvitamin D and parathyroid hormone levels for the whole study population. Serum calcium and phosphorus levels were normal for the 15 patients with vitamin D deficiency. Bone mineral density was investigated for 11 of these latter 15 patients, and six of them had osteopenia. Winter/spring seasons of vitamin D measurement, severity of ichthyosis, and phototypes IV-VI were identified as independent risk factors for vitamin D deficiency., Conclusions: Clinicians should be aware of the risk of vitamin D deficiency in the management of patients with inherited ichthyosis, especially in winter and spring, and in case of dark skin or severe disease.

Background: Skin diseases characterize all stages of human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS) and contribute significantly to associated morbidity and mortality., Objectives: The aim of this study was to document the prevalences, patterns, and extents (severity) of skin diseases and their relationships with immunologic status in HIV/AIDS patients., Methods: A total of 140 HIV/AIDS patients in different stages of HIV infection and 140 controls were recruited. Skin diseases were documented and CD4+ cell counts determined in all subjects. Severity was assessed according to the body surface area affected (using the Wallace rule of nines and the rule of palm) for lesions that tended to be widespread. The number of digits involved was counted for lesions involving the nails. Intensity of pain was graded for specific conditions such as herpes zoster. Chi-squared statistics and Pearson correlations were determined., Results: Mean±standard deviation age was 35.04±8.83 years in the patient group and 32.21±8.30 years in the control group. The prevalences and patterns of skin diseases in HIV/AIDS patients were similar to those reported in previous studies. Most commonly found dermatoses were oral candidiasis (n=28, 20.0%), pruritic papular eruption (n=27, 19.3%), xeroderma (n=23, 16.4%), dermatophytosis (n=22, 15.7%), and fluffy hair (n=19, 13.6%). The presence of specific skin lesions represented a better correlate with immunosuppression than cutaneous extents. However, the extents of viral warts and multiple blue–black nails correlated significantly with CD4+ cell count. The presence of a lighter hair color phenotype signifies a lower CD4+ cell count than a softer hair phenotype., Conclusions: The presence of specific skin lesions correlates more strongly with a low CD4+ cell count than does the extent of their distribution, except in cases of viral warts. The presence of and higher numbers of nails affected with blue–black nail hyperpigmentation suggest severe immunosuppression.

Ichthyoses are genetically determined Mendelian disorders of cornification (MEDOC) that are characterized by universal scaling. Today we distinguish between non-syndromic and syndromic forms. Ichthyosis vulgaris is the most frequent type (prevalence 1:100) and is caused by autosomal semi-dominant filaggrin mutations. It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X-linked ichthyosis (RXLI) occurs almost exclusively in boys; in Germany it has a prevalence of around 1:4,000. It is caused by steroid sulfatase deficiency and is often associated with further clinical problems, such as cryptorchidism (∼20%) or social communication deficits, such as attention deficit hyperactivity syndrome (40%) or autism (25%). Autosomal recessive congenital ichthyosis (ARCI) is genetically very heterogeneous and 8 different genes have been identified so far. The most frequent cause of ARCI is a transglutaminase 1 deficiency (prevalence 1:200, 000). Mutations in keratin genes are the cause of the keratinopathic ichthyoses, such as epidermolytic ichthyosis. They manifest at birth and often feature episodes of blistering. Most of these types are inherited as autosomal dominant traits, but autosomal recessive forms have also been described on occasion., (© 2014 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)

Background: Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France., Methods: Capture - recapture method was used for this study. According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients. The study was conducted in 5 areas during a closed period., Results: The prevalence was estimated at 13.3 per million people (/M) (CI95%, [10.9 - 17.6]). With regard to autosomal recessive congenital ichthyosis, the prevalence was estimated at 7/M (CI 95% [5.7 - 9.2]), with a prevalence of lamellar ichthyosis and congenital ichthyosiform erythroderma of 4.5/M (CI 95% [3.7 - 5.9]) and 1.9/M (CI 95% [1.6 - 2.6]), respectively. Prevalence of keratinopathic forms was estimated at 1.1/M (CI 95% [0.9 - 1.5]). Prevalence of syndromic forms (all clinical forms together) was estimated at 1.9/M (CI 95% [1.6 - 2.6])., Conclusions: Our results constitute a crucial basis to properly size the necessary health measures that are required to improve patient care and design further clinical studies.

Patient registries for dermatological disorders are important sources of data for researchers, clinicians, and patients. The majority of registries are maintained by academic investigators with funding from federal agencies. However, these registries are fragmented and are maintained only as long as federal funding exists. Patient organizations and companies can serve as alternative sources of funding for registries.

Background: Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. In the Galician (NW Spain) population, three mutations, c.2278C>T, c.1223&#95;1227delACAC and c.984+1G>A, were observed at high frequency, representing ~46%, ~21% and ~13% of all TGM1 gene mutations, respectively. Moreover, these mutations were reported only once outside of Galicia, pointing to the existence of historical episodes of local severe genetic drift in this region., Methodology/principal Findings: In order to determine whether these mutations were inherited from a common ancestor in the Galician population, and to estimate the number of generations since their initial appearance, we carried out a haplotype-based analysis by way of genotyping 21 SNPs within and flanking the TGM1 gene and 10 flanking polymorphic microsatellite markers spanning a region of 12 Mb. Two linkage disequilibrium based methods were used to estimate the time to the most recent common ancestor (TMRCA), while a Bayesian-based procedure was used to estimate the age of the two mutations. Haplotype reconstruction from unphased genotypes of all members of the affected pedigrees indicated that all carriers for each of the two mutations harbored the same haplotypes, indicating common ancestry., Conclusions/significance: In good agreement with the documentation record and the census, both mutations arose between 2,800-2,900 years ago (y.a.), but their TMRCA was in the range 600-1,290 y.a., pointing to the existence of historical bottlenecks in the region followed by population growth. This demographic scenario finds further support on a Bayesian Coalescent Analysis based on TGM1 haplotypes that allowed estimating the occurrence of a dramatic reduction of effective population size around 900-4,500 y.a. (95% highest posterior density) followed by exponential growth.

Introduction: Recently, there have been new antiseptics for surgical scrub that do not require brushing. One of them contains 1% chlorhexidine gluconate and 61% ethyl alcohol; within its benefits, it may offer a low potential for skin sensitization, as well as cost savings and less use of water., Objectives: To evaluate satisfaction levels, washing time, safety, cost and amount of water between the traditional surgical scrub technique (group A) and brush-free surgical scrub procedure (group B)., Material and Methods: One hundred clean and clean-contaminated surgeries with four hundred members of surgical teams were included. Satisfaction levels, hand-washing time, skin disorders and problems associated with placement of gloves were evaluated. Hands cultures were taken in 20% of the population and the amount of water used by patients in group A was measured. Total costs and wound infections were analyzed., Results: Satisfaction scale in group A was 9.1 +/- 1.39 and 9.5 +/- 1.54 in group B (p = 0.004). The mean hand-washing time was 3.9 +/- 1.07 min in group A and 2.0 +/- 0.47 min in group B (p = 0.00001). Thirteen patients had dry skin in group A and four in group B (6.5% vs. 2%; p = 0.02). There were ten positives cultures in group A and five in group B (25% vs. 12.5%, p = 0.152). Wound infection rate was 3%. On average, five-hundred eighty liters of water were used by the former group, and the estimated hand-washing cost was lower in the second group., Conclusions: The handwashing technique with CGEA is as effective as traditional surgical scrub technique, and it is associated with less washing time, dry skin, cost and use of water.

Ichthyosis is a heterogeneous cornification disorder. Melanocytic lesions have not been previously described in association with ichthyosis. Their clinical importance lies in the fact that they may simulate melanoma clinically and dermoscopically, as seen in epidermolysis bullosa. The objective of this study was to evaluate the clinical, dermoscopic, and histopathologic features of nevi and lentigines in 16 patients with autosomal recessive congenital ichthyosis-lamellar ichthyosis and nonbullous ichthyosiform congenital erythroderma. Patients underwent general clinical examination dermoscopy. The more suspicious lesions were excised and to histopathologic examination. Most patients (n = 13) reported no personal or familial history of melanoma or atypical nevi. All of the patients had at least five atypical melanocytic lesions. Ten of the 16 patients had at least one atypical nevus or lentigo. This study suggests that increased atypical melanocytic nevi may be a feature of long-standing congenital ichthyoses. Whether this finding is disease-related or a coincidental observation is difficult to ascertain. As an unequivocal discrimination from malignant melanoma in vivo is not always possible, regular clinical follow-up of patients with ichthyosis and increased or unusual nevi is recommended., (© 2010 Wiley Periodicals, Inc.)

Grover disease (GD) is a rather common papular pruritic dermatosis that can be transient, persistent, or asymptomatic. The microscopic diagnosis of clinically suspected lesions can be challenging because GD can adopt different patterns, and involved areas are generally admitted to be mostly focal. The histopathologic hallmark of the disease is acantholysis, frequently combined with dyskeratosis, which confers the lesions an appearance similar to Darier disease, Hailey-Hailey disease, or pemphigus. Eczematous features can be observed as well. In this study of 120 consecutive cases of GD, we have found a sex and age incidence similar to what has been previously described, with no obvious seasonal influence, but careful evaluation of their microscopic features suggests that the histopathological diagnostic criteria of GD should be expanded. Specifically, in addition to the commonly described GD findings, we have detected cases with porokeratosis-like oblique columns of parakeratosis, lesions showing a nevoid or lentiginous silhouette, intraepidermal vesicular lesions, lichenoid changes with basal vacuolization and dyskeratosis, and dysmaturative foci with keratinocyte atypia. Moreover, quite often the dermal infiltrate was composed not only of lymphocytes intermingled with eosinophils, but also of neutrophils. In many cases, the capillary vessels showed hints of vascular damage including endothelial tumefaction due to cytoplasmatic edema and erythrocyte extravasation. Finally, because involved areas were larger than 2 mm in more than 50% of our cases, we should assume that GD lesions are not always as small as commonly claimed. Awareness of the patterns newly described herein may be important to avoid underdiagnosis of GD and may contribute to understand the pathogenesis of this acantholytic disease.

Mucocutaneous findings in 150 HIV+ve cases (F, 79; M, 71) were evaluated over a one-year period. Mucocutaneous manifestations were seen in 96% with 2.9 mean number of dermatoses and mean cluster of differentiation (CD4) count of 196.33 cells/mm(3). The highest number of mean dermatoses, 3.29, was seen in individuals with severe immunosuppression. The most common mucocutaneous manifestation seen was candidiasis (35.33%), followed by seborrhoeic dermatitis (31.33%), oral pigmentation (29.33%), xerosis/ichthyosis (22.67%), pyodermas (22%), periodontitis (17.33%) and nail pigmentation (16.67%). Patient stratification according to the WHO immunological staging, according to CD4 counts, showed a statistically significant association (P < 0.05) for candidiasis, scabies, paronychia, oral pigmentation and diffuse hair loss. Nail and oral pigmentary changes, trichomegaly and subcutaneous fungal infections caused by dermatophytes were highlights of the study. Incidences of xerosis/ichthyosis, pyodermas, scabies and molluscum contagiosum reported in our study were higher and pruritic popular eruptions was lower than those in previous Indian studies. Cutaneous neoplasms were not seen in the present study.

Objectives: We described epidemiological, clinical, histopathological and ultrastructural features of ichthyosis in the golden retriever breed in a prospective study. We also investigated the mode of transmission of this disease., Materials and Methods: We examined 150 golden retrievers, 73 of which were affected by ichthyosis (35 males and 38 females). We carried out detailed clinical and histopathological examinations for 40 affected dogs. Transmission electron microscopy was performed for two of them. We used pedigree analysis with the Cyrillic software to determine the mode of transmission., Results: Dermatological signs included a mild to moderate or severe generalised scaling with initially small to large whitish scales and progressively blackish scales. The ventral glabrous skin was hyperpigmented and rough, similar to sandpaper. Histopathological features were characterised by moderate to severe laminated or compact orthokeratotic epidermal hyperkeratosis without significant involvement of the stratum granulosum. Ultrastructural findings revealed laminated or compact keratin layers and numerous persistent corneodesmosomes within the stratum corneum. Analysis of the pedigree suggested an autosomal recessive inheritance., Conclusion: The histopathological and ultrastructural characteristics strongly suggest that golden retriever ichthyosis is a retention ichthyosis, caused by absence of corneodesmosomal degradation, transmitted through an autosomal recessive mode.

Objectives: ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is a rare, fatal cause of neonatal intrahepatic cholestasis without known treatment modalities and has recently been ascribed to a mutation in the VPS33B gene. We assessed the clinical characteristics and investigated the VPS33B mutations in Korean patients with ARC syndrome., Patients and Methods: We reviewed the medical records of 6 patients with ARC syndrome among 90 patients with neonatal cholestasis from 2000 to 2005 and assessed the relative incidence rate ratio, clinical symptoms, laboratory findings, and pathological findings. DNA samples from 5 patients, 4 parents, and 2 fetuses were analyzed for VPS33B mutations., Results: The relative incidence rate ratio was 1/7 that of biliary atresia (95% CI 0.33-0.06). All 6 patients presented with ichthyosis and recurrent infection, and failed to thrive with the 3 main symptoms. All of the patients died within the age of 12 months. They had various severities of cholestasis, metabolic acidosis, nephrogenic diabetes insipidus, chronic diarrhea, platelet abnormalities, and central nervous system anomalies. We identified 1 novel c.403+2T>A splice-site mutation, 2 frame-shift mutations (c.1509&#95;1510insG, c.790&#95;791del), 1 nonsense mutation (c.661C>A), and 1 known nonsense mutation (c.1518C>T) in the VPS33B gene. Prenatal diagnosis was performed in 2 different families., Conclusions: This study indicates that the incidence of ARC syndrome is not as rare as has been thought. We found 4 novel and 1 known mutations in ARC syndrome patients and performed prenatal diagnosis in 2 families, which will facilitate genetic diagnosis and counseling for affected families.

Objective: To determine whether working under relative humidity (RH) around 55 +/- 5% may lead to dry symptoms among workers in tropical regions., Methods: We recruited 3,154 Taiwanese workers who had no history of skin diseases and compared dry symptoms between clean room workers (RH around 55 +/- 5%) and other workers (RH around 65 +/- 5%)., Results: Clean room workers had higher prevalences of dry symptoms of the eye (odds ratio [OR]=1.62, 95% confidence interval [CI]: 1.40 to 1.86), nose and throat (OR=2.15, 95% CI: 1.66 to 2.79), and skin (OR=1.46, 95% CI: 1.23 to 1.73). In clean room workers, however, dry skin symptoms affected the palms (OR=1.72, 95% CI: 1.24 to 2.39), which are covered by gloves, more frequently than the face (OR=0.65, 95% CI: 0.45 to 0.94), which is exposed to the room air. We found working in clean rooms (adjusted OR [AOR]=1.38, 95% CI: 1.08 to 1.77), 24 to 30 yr of age (AOR=0.78, 95% CI: 0.62 to 0.99), family history of atopic diseases (AOR=1.75, 95% CI: 1.37 to 2.25), and skin moisturizer use (AOR=1.64, 95% CI: 1.30 to 2.06) were independent predictors of skin symptoms. In addition, working in clean rooms was an independent predictor of dry eye (AOR=1.30, 95% CI: 1.06 to 1.60) and dry nose and throat (AOR=1.70, 95% CI: 1.28 to 2.26) symptoms., Conclusions: Whereas the humidity in such working environments is not very low, for workers living in a high humidity environment, the relatively low humidity may still cause dry symptoms of the eye, nose, and throat.

Background: Ichthyosis are a group of inherited keratinizing disorders. The cutaneous abnormalities may be isolated or associated with extra-cutaneous symptoms., Aim: To report the epidemiological and clinical profiles of patients with these genodermatoses from a hospital tunisian study., Methods: A retrospective study of all cases of ichthyosis referred during a period of 5 years to the department of dermatology of Charles Nicole's hospital of Tunis., Results: Sixty cases of hereditary ichthyosis were seen. The sex-ratio was of 0.5. Parental consanguinity was noted in 36 patients (60%). Seventeen patients (25.7%) had a positive familial history of ichthyosis. The clinical form of ichthyosis was determined in 52 cases. The nonbullous ichthyosiform erythroderma was observed in 25 patients (41.6%). Sixty patients presented an ichthyosis vulgaris (26.6%). The other forms of ichthyosis were rarely observed : 4 cases of X-linked recessive ichthyosis, 2 cases of lamellar ichthyosis and 2 cases of bullous ichthyosiform erythroderma. Two patients were born with collodion-like membranes. Two cases presented a complex syndrome., Conclusion: The NBIE, commonly considered as a rare form of ichthyosis, was the most frequently form seen in our study (41.6%), probably because of the high frequency of consanguineous marriages in Tunisia. The IV represents the most frequent form reported in the literature and was observed in 25% of our patients. The classification of some ichthyosis associated with other extracutaneous abnormalities (found in 2 of our patients) remains difficult.

Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years of age (median 6 years). In addition to hair abnormalities, common features reported were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%) and defective DNA repair (37%). There was high mortality, with 19 deaths under the age of 10 years (13 infection related), which is 20-fold higher compared to the US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections and a high mortality at a young age. Abnormal characteristics at birth and pregnancy complications, unrecognised but common features of TTD, suggest a role for DNA repair genes in normal fetal development.

Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models to dissect physiologic processes in normal epidermis and the pathophysiology of more common scaling conditions. In most of these disorders, a permeability barrier abnormality "drives" pathophysiology through stimulation of epidermal hyperplasia. Among primary abnormalities of nonpolar lipid metabolism, triglyceride accumulation in neutral lipid storage disease as a result of a lipase mutation provokes a barrier abnormality via lamellar/nonlamellar phase separation within the extracellular matrix of the stratum corneum (SC). Similar mechanisms account for the barrier abnormalities (and subsequent ichthyosis) in inherited disorders of polar lipid metabolism. For example, in recessive X-linked ichthyosis (RXLI), cholesterol sulfate (CSO(4)) accumulation also produces a permeability barrier defect through lamellar/nonlamellar phase separation. However, in RXLI, the desquamation abnormality is in part attributable to the plurifunctional roles of CSO(4) as a regulator of both epidermal differentiation and corneodesmosome degradation. Phase separation also occurs in type II Gaucher disease (GD; from accumulation of glucosylceramides as a result of to beta-glucocerebrosidase deficiency). Finally, failure to assemble both lipids and desquamatory enzymes into nascent epidermal lamellar bodies (LBs) accounts for both the permeability barrier and desquamation abnormalities in Harlequin ichthyosis (HI). The barrier abnormality provokes the clinical phenotype in these disorders not only by stimulating epidermal proliferation, but also by inducing inflammation.

Background: A total of 10 455 new dermatology patients were seen in the dermatology clinics of King Fahad Hospital of the University (KFHU), Al-Khobar, Saudi Arabia, between January 1990 and December 1995. We identified 71 patients with a histopathologically confirmed diagnosis of specific forms of primary hereditary ichthyoses (PHI). We have reviewed the epidemiological and clinical features of these patients., Objective: To document the epidemiological and clinical features of patients with PHI in the Eastern Province of Saudi Arabia., Methods: We used the dermatology out-patient department (OPD) logbooks to identify cases of PHI from new patients presenting with different dermatological problems over a 6-year period. We used specifically designed protocol forms to extract epidemiological and clinical data from the study patients' medical records. These were entered into a computer database and analyzed using standard statistical software., Results: A total of 71 patients, 44 males and 27 females (male : female sex ratio of 1.63 : 1), were identified from a total of 10 455 new patients seen in our dermatology clinics between January 1990 and December 1995. The occurrence rate of PHI, in our clinics, was 0.67% or 7 per 1000 new dermatology cases. The clinical pattern of PHI showed that Icthyosis Vulgaris was the most common form seen, followed by Nonbullous Ichthyosiform Erythroderma. Thirty-one patients (44.7%) with Ichthyosis Vulgaris (IV) were seen: 12 patients (16.9%) with X-linked Recessive Ichthyosis (XLRI), four patients (5.6%) with Lamellar Ichthyosis (LI), three patients (4.2%) with Bullous Ichthyosiform Erythroderma (BIE) and 21 patients (29.6%) with Nonbullous Ichthyosiform Erythroderma (NBIE). There was a significantly high consanguinity rate in our patients (85%), and the family history was positive in 53 cases out of the 71 (75%)., Conclusions: This preliminary study is the first report of its kind from Saudi Arabia and documents the clinico-epidemiological features of PHI patients in the Eastern Province. The high rate of parental consanguinity among our Saudi patients may account for the high proportion of patients with a positive family history. Consanguinity also probably explains why the most severe forms of PHI were seen in a significant number of new patients' siblings. These severe forms of PHI (Nonbullous Ichthyosiform Erythroderma, Bullous Ichthyosiform Erythroderma and Lamellar Ichthyosis) together constituted nearly 40% of all cases.

Objective: The aim of this study is to find out the association of atopic dermatitis and other atopic features with primary hereditary ichthyosis (PHI) among Saudi patients in King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia., Methods: From the out-patient Department of Dermatology logbooks, all Saudi patients with clinically and histopathologically confirmed PHI seen between January 1990 and December 1995 were included in this study. Clinical findings regarding the atopic manifestations of PHI were extracted into data collection forms and computer-analyzed, using Statistical Package for Social Sciences., Results: Over a 6-year study period, 10,455 new patients were seen in our Dermatology Clinics. Of these, 61 had PHI, there were 37 males and 24 females with a ratio of 1.5:1. Atopic dermatitis (AD), diagnosed according to Hanifin and Rajka criteria, was found in 7 (11.5%) patients of PHI; 5 of which were ichthyosis vulgaris and 2 with x-linked recessive ichthyosis. Isolated features of atopy were observed in the form of pruritus 49 (80%), elevated immunoglobulin E 27 (44.3%), dandruff 24 (39%), keratosis pilaris (KP) 15 (25%) and asthma 3 (5%)., Conclusion: In the present study, there was an 11.5% association between AD and PHI. However, isolated features of atopy were found in PHI in variable proportions ranging from 5-80%.

Background: Of 10,455 new dermatology patients seen at the Dermatology Clinic of King Fahad Hospital of the University, Al-Khobar, Saudi Arabia, between January 1990 and December 1995, the epidemiologic and demographic features of 71 patients, each with a histopathologically confirmed diagnosis of one specific type of primary hereditary ichthyosis (PHI), have been reviewed., Objective: To study and document the epidemiologic and demographic profiles of patients with PHI in the Eastern Province of Saudi Arabia., Methods: From the outpatient department dermatology logbooks, 71 patients with PHI, from 10,455 new cases with different dermatologic problems seen during the 5-year period, were included in this study. Using specially designed protocol forms, epidemiologic and demographic data were extracted from the medical records of the patients, entered into a computer, and analyzed using the SPSS program., Results: Seventy-one patients with PHI, 44 males and 27 females (ratio, 1.63 : 1), were seen at our Dermatology Clinic between January 1990 and December 1995. The occurrence rate of PHI in our clinic is 0.67%, i.e. approximately 7 per 1000 new cases. The clinical pattern of PHI was as follows: 31 patients (44.7%) with ichthyosis vulgaris (IV), 12 (16.9%) with X-linked recessive ichthyosis (XLRI), four (5.6%) with lamellar ichthyosis (LI), three (4.2%) with bullous ichthyosiform erythroderma (BIE), and 21 (29.6%) with nonbullous ichthyosiform erythroderma (NBIE). IV was most common, followed by NBIE. Parental consanguinity was high (approximately 85%), and the family history was positive in 53 of the 71 cases (75%)., Conclusions: This preliminary study has attempted to document the epidemiologic patterns of PHI patients in Saudi Arabia and, to our knowledge, this is the first report of its kind in this country. We found a high rate of parental consanguinity, a high percentage of patients with a positive family history, and many siblings affected by the severest forms of PHI, namely NBIE, BIE, and LI, which accounted for 39.4% of all cases of PHI.

Objective: The aim of our study was to evaluate the frequency of skin manifestations, including the diabetic hand syndrome, in young IDDM patients. In addition, we studied the relation of the cutaneous manifestations to diabetes duration, glycemic control, and microvascular complications., Research Design and Methods: The frequency of skin manifestations, including the diabetic hand syndrome, were examined in 238 IDDM patients (disease duration > 5 years) and 122 healthy control subjects in a cross-sectional study. In addition, we studied the relation of the cutaneous manifestations with diabetes duration, glycemic control, BMI, microvascular complications, and stratum corneum hydration using a stepwise logistic regression., Results: Diabetic skin manifestations were detected in 168 of 238 (71%) IDDM patients and in 18 of 122 (14%) of the control subjects. Ichthyosiform skin changes of the shins, scleroderma-like skin changes, tinea pedis, and dry scaly palms were detected in 48 vs. 7%, 39 vs. 0%, 32 vs. 7%, and 21 vs. 0.8% of the patients and control subjects, respectively. In the diabetic patients, a significant association was found between ichthyosis of the shins and scleroderma-like skin changes of the hand (P < 0.001) and between scleroderma-like skin changes and the skin dryness of the palms (P < 0.0001). When diabetic risk factors were considered, diabetes duration was significantly associated with scleroderma-like skin changes and ichthyosis of the shins (P < 0.0001). The latter was also found to be related to diabetic retinopathy (P < 0.0001). Keratosis pilaris was present in 21% of the patients versus 9% in control subjects and was found to be exclusively associated with high BMI., Conclusions: Acquired ichthyosis is a common finding and the most prevalent skin manifestation in young IDDM patients. The development of several skin manifestations in insulin-dependent patients seems to be related to duration of diabetes and to development of diabetic microvascular complications.

Background: The presence of dermatoses is very common in Acquired Human Immunodeficiency Syndrome (AIDS). The present study was undertaken to correlate the various dermatoses with the evolutionary phases of AIDS., Methods: We examined 223 HIV-infected patients older than 13 seen at the University of São Paulo, Faculty of Medicine of Ribeirão Preto, from 1989 to 1993. Patients were divided according to the CDC classification and assigned to groups I, II and III (initial stages of AIDS) and to group IV (fully symptomatic stage of AIDS)., Results: The mean frequency of dermatoses detected in patients with AIDS was higher compared to the early phases of HIV infection. The most frequently detected dermatoses were, in decreasing order of occurrence, dermatoses of fungal etiology, and desquamating disorders, such as psoriasis, seborrheic dermatitis, xerosis, and viral dermatoses., Conclusions: A careful examination of skin and mucosae may be highly useful for the diagnosis of HIV infection. The number of dermatoses tended to increase during the more advanced stages of infection.

Introduction: Several skin diseases are associated with human immunodeficiency virus (HIV) infection. In Africa, due to the difficult access to medical care and complementary examinations, certain diseases are of particular importance. In the present work, we report the skin manifestations observed in a dermatology unit of a large city in Africa over a 3 year period and which were the revealing signs of HIV infection., Patients and Methods: All adult subjects (>15 years) with a positive HIV serology (confirmed by Western blot) that had been revealed by a skin disease seen at the Marchoux Institute at Bamako between June 1991 and September 1994 were included in the study., Results: Two hundred sixty-three skin diseases revealed 233 cases of HIV infection. Diseases observed were: zoster (n = 71), seborrheic dermatitis (n = 43), Kaposi's sarcoma (n = 34), prurigo (n = 31), sexually transmitted diseases (n = 27), extensive dermatophytosis (n = 12), psoriasis (n = 12), molluscum contagiosum (n = 8), acquired ichthyosis (n = 3), cutaneous leishmaniasis (n = 2) and other skin diseases (n = 10). More than one disease were associated in 28 patients. Certain particular features were noted (superinfection of zoster, papular margin in dermatophytosis)., Discussion: In Africa, certain skin diseases often reveal HIV infection and some diseases have a high positive predictive value for HIV infection (zoster, seborrheic dermatitis, prurigo, Kaposi's sarcoma, extensive dermatophytotis). For prognosis, frequently associated diseases are signs of AIDS (Kaposi's disease, prurigo, molluscum contagiosum).

The Harlequin fetus is a distinct genetic entity with a strikingly grotesque appearance. Three siblings (two males, one female) with Harlequin Ichthyosis, a rare form of congenital disorder, born to the same parents are presented. The genetic aspects are discussed and the relevant literature is reviewed.