Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. In this update, we summarize a total of 83 different WRN mutations, including eight previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of WS patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for WS patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation.

No abstract

A 31-year-old HIV-seropositive woman from Durban, KwaZulu-Natal, South Africa, presented with a 3-month history of widespread umbilicated and ulcerated skin papules, plaques, and nodules. The skin lesions were biopsied and sent for histology and fungal culture; the cultured isolate was referred for molecular identification. Histology, fungal culture, and molecular testing confirmed that the dimorphic fungal pathogen Emergomyces africanus had caused a disseminated mycosis.

Background Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe life-threatening mucocutaneous reactions. There is an ongoing controversy regarding the use of systemic corticosteroids and intravenous immunoglobulin (IVIG) in SJS/TEN and their utility in HIV-infected patients. Objectives The objective was to assess the outcome of a combination of intensive supportive care with oral corticosteroids in SJS and a combination of systemic steroids and IVIG for 3 consecutive days in HIV-infected patients with TEN. In addition, we assessed management in a general dermatology ward without implementing wound debridement. Methods This was a retrospective cohort study of 36 HIV-infected adults with SJS/TEN admitted to a tertiary dermatology unit between 1st January 2010 and 31st July 2011. Standard-of-care protocols included identification and elimination of the possible causative drug, meticulous wound care without debridement, initiation of oral prednisone (1 mg/kg/day) on admission for 3 consecutive days, and the addition of IVIG (1 g/kg/day) for 3 consecutive days to those with TEN. Results Of the 36 patients in the study, 32 were female. Nevirapine was the commonest drug implicated. A diagnosis of tuberculosis did not increase the case fatality rate. Complications included infections, anaemia, drug-induced hepatitis, ocular involvement, renal impairment, deep vein thrombosis, respiratory distress, Leucopenia, gastritis and hypernatremia. The overall survival rate was 97%. Conclusion HIV-infected SJS and TEN patients were treated in a tertiary dermatology ward with a treatment plan of skin care, and a combination of systemic corticosteroids and IVIG respectively had a survival rate of 97%.

Background Epidermolysis bullosa (EB) is an inherited genodermatosis that results in mucocutaneous fragility. There is a lack of data on the impact of this disease on parents. There are no studies on the impact on siblings and few on healthcare professionals in dealing with this devastating disease. Methods A scoping review was performed using the Arksey and O'Malley and PRISMA‐ScR framework. Twenty‐seven articles were reviewed, and a data‐charting sheet was formulated. Results Parents make great sacrifices and are resilient in caring for their sick children but are at risk of depression. Siblings play a vital role in caring for their siblings, but their needs may be overlooked because the main focus is on the sibling with EB. Healthcare professionals may suffer burnout and compassion fatigue in caring for patients and their families with EB. Conclusion Comprehensive care of the family and the awareness of the challenges experienced by healthcare professionals is essential to the holistic care of a patient with EB.

The spectrum of skin disorders seen in a population may reflect the level of hygiene, social development and health status of that community. [1] A higher number of infectious skin disorders have been found in developing countries compared with allergic disorders, which are more prominent in developed countries. [2,3] Paediatric dermatological problems are common, with some conditions requiring specialist consultation. Often appropriate diagnosis and therapy are delayed because specialist dermatology services are only available in the larger cities and patients cannot access these readily. Conditions such as atopic dermatitis (AD) may be associated with negative psychosocial impact and impaired quality of life for both the patients and affected family. [4] Vitiligo and viral warts are also common diseases that lead to loss of self-esteem and psychological problems. [5] At the time of the study, there was no recent documentation of the prevalence of skin disorders in children. The previous study of childhood-associated dermatoses was conducted 41 years ago by Findlay et al. [6] in Pretoria, with a focus mainly on white children. As such, it is imperative to study the current spectrum of skin diseases seen in children in a tertiary dermatology clinic, to assist in identifying diseases of greatest burden. This is paramount for public health intervention and future health planning. Therefore, this study aims to document the spectrum of paediatric skin diseases, investigating their relationship with age and gender, compare referring doctors' diagnoses with those of dermatologists, describe management modalities and estimate treatment costs. Methods This was a cross-sectional study involving all children (regardless of HIV status) aged 0-18 years and attending the dermatology outpatient

No abstract

Pyoderma gangrenosum (PG) is a rare cause of cutaneous ulceration in children, accounting for 4% of cases occurring worldwide. 1 Lesions begin as tender papulopustules, bullae, or nodules, resulting in painful ulcers with elevated dusky borders and cribriform scarring. Associations include inflammatory bowel disease, connective tissue disease, arthritis, primary immunodeficiencies such as leukocyte adhesion defect and chronic granulomatous disease, hematological disorders, HIV, rheumatoid arthitis, and Takayasu disease. 2 2 | C A S E REP ORT A 7-year-old HIV-negative African female, treated for pulmonary tuberculosis (TB) for 6 weeks, presented with a 1-month history of painful abscesses and ulcers on the scalp, trunk, and extensor extremities, involving approximately 30% of her body surface area. Response to numerous courses of antibiotics commenced at the local clinic was very poor. There were no gastrointestinal symptoms, arthralgia, oral ulcers, or photophobia. Examination revealed an ill-looking child with a temperature of 37.6°C, pallor, and mild respiratory distress on nasal prong oxygen. Ulcers and abscesses with prominent borders were observed on the trunk and extensor extremities (Figures 1A and 2A) as well as annular plaques, ulcers, and patchy alopecia on the scalp. There was no organomegaly or lymphadenopathy. Cardiovascular assessment showed a persistently elevated mean blood pressure of 130/90 mm Hg and a tachycardia of 119 beats per minute. A skin biopsy of the ulcers showed a dense neutrophilic infiltrate extending deep into the dermis. Histologic stains for infection and tissue cultures for fungus, bacteria, tuberculosis, atypical mycobacteria, and viruses were negative. Complete blood count and smear showed a