Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil.

BACKGROUND: Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce. OBJECTIVES: To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022. METHODS: An observational and retrospective study was conducted through the analysis of medical records. The evaluated data included clinical form, sex, family history, consanguinity, age at diagnosis, current age, time of follow-up, comorbidities, histopathology and immunomapping, presence of EB nevi and squamous cell carcinomas (SCC), cause of and age at death. RESULTS: Of 309 patients with hereditary EB, 278 were included. The most common type was dystrophic EB (DEB), with 73% (28.4% dominant DEB, 31.7% recessive DEB and 12.9% pruriginous DEB). Other types were junctional EB with 9.4%, EB simplex with 16.5% and Kindler EB with 1.1%. Women accounted for 53% and men for 47% of cases. Family history was found in 35% and consanguinity in 11%. The mean age at diagnosis was 10.8 years and the current age was 26 years. The mean time of follow-up was nine years. Esophageal stenosis affected 14%, dental alterations affected 36%, malnutrition 13% and anemia 29%. During diagnostic investigation, 72.6% underwent histopathological examination and 92% underwent immunomapping. EB nevi were identified in 17%. Nine patients had SCC. Eleven patients died. STUDY LIMITATIONS: Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing. CONCLUSIONS: In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.

Cutaneous infections from viral sources in solid organ transplant recipients.

INTRODUCTION: Solid organ transplant recipients (SOTRs) are susceptible to various dermatological complications caused by long-term immunosuppressive therapy. Of these complications, viral infections are noteworthy because of their high prevalence and the potential morbidity associated with viral carcinogenesis. OBJECTIVES: To evaluate the occurrence of cutaneous viral infections in SOTRs and their correlation with clinical features, transplant type, and the length and intensity of immunosuppressive therapy. METHODS: This retrospective cohort study included SOTRs followed up at the Department of Dermatology in a tertiary hospital. The outcomes analyzed were the occurrence of cutaneous viral infections, including human papillomavirus (HPV) infection, herpes simplex, herpes zoster, molluscum contagiosum, Merkel cell carcinoma, Kaposi's sarcoma, and cytomegalovirus, and the occurrence of HPV-related neoplasms. Clinical variables, such as length and intensity of immunosuppression, type of transplanted organ, and comorbidities, were analyzed as possible risk factors for cutaneous viral infections in SOTRs. RESULTS: A total of 528 SOTRs were included in this study, among which 53.8% had one or more viral infections. Of these, 10% developed a virus-associated malignancy (HPV-associated carcinoma, Merkel cell carcinoma, or Kaposi's sarcoma). The higher risk of viral infections among SOTRs was associated with cyclosporine intake (1.40-fold higher risk) and younger age at transplantation. The use of an immunosuppressive regimen, including additional drugs, was associated with a higher risk of genital HPV infection (1.50-fold higher risk for each incremental drug). CONCLUSIONS: The occurrence of cutaneous viral infections in SOTRs is directly associated with the duration and intensity of immunosuppressive therapy. Patients at higher risk were those taking drugs with a stronger impact on cellular immunity and/or those on an immunosuppressive regimen comprising various drugs.

What to expect when AGEP is induced by terbinafine? Case report and critical review of the literature.

BACKGROUND: Acute Generalised Exanthematous Pustulosis (AGEP) is a rash with multiple sterile intraepidermal or subcorneal non-follicular pustules on edematous papules, with a sudden development and rapid evolution, triggered by drugs, vaccination, insect bites, exposure to mercury, and allergens. OBJECTIVES AND METHODS: We describe a female patient who developed extensive and abnormally prolonged AGEP following exposure to terbinafine and SARS-CoV vaccine. A detailed review of terbinafine-induced-AGEP cases was performed, with the aim of evaluating if the AGEP criteria would follow a different pattern when the disease is triggered by this drug. A PubMed search helped retrieve all terbinafine-induced AGEP case reports. AGEP-specific Sideroff criteria were analysed in terbinafine-induced cases and compared to other trigger causes. CONCLUSIONS: When the AGEP causative drug was terbinafine, a delay in recovery was observed, compared to the existing AGEP criteria when other causes are considered. Terbinafine frequently leads to delayed resolution AGEP probably due to the presence of the drug in the skin for several weeks after exposure, even after discontinuation, and the disease severity may be potentialised by additional factors such as concomitant viral infections or vaccination.

Epidermodysplasia verruciformis: report of two patients with autosomal dominant inheritance.

Epidermodysplasia verruciformis is a rare genodermatosis associated with mutations in the EVER1/TMC6 and EVER2/TMC8 genes. The inheritance is considered to be autosomal recessive, but reports suggesting an autosomal dominant inheritance indicate disease genetic heterogeneity. Its onset occurs in early childhood and presents as a combination of pityriasis versicolor-like, flat wart-like and seborrheic keratosis-like lesions, with a potential for malignant transformation, mainly squamous cell carcinoma.

Pediatric dermatoses pattern at a Brazilian reference center.

OBJECTIVE: The aim of this study was to identify the pattern of pediatric dermatoses of patients evaluated at a dermatologic clinic of a reference center in Brazil and to compare these results to similar surveys conducted in other countries. METHODS: A retrospective study was performed of patients up to 18 years old, evaluated at a dermatologic clinic between January 1, 2017 and December 31, 2017. Variables collected for analysis included age, gender, dermatological diagnosis, multidisciplinary follow-up, hospitalization, and complementary exams. RESULTS: A total of 2330 patients were included for analysis, with a mean age of 9.7 years. 295 patients were diagnosed with more than one skin disease, leading to a total of 2668 diagnoses. Skin diseases were organized into categories and inflammatory dermatoses corresponded to the largest group (31.2%), mostly due to atopic dermatitis (18.3%). The other main categories were: genodermatoses (14.2%), infectious diseases (12.6%), adnexal disorders (12.5%), cysts and neoplasms (10.7%), and vascular disorders (7.0%). Fifty-six patients needed to be admitted to the dermatology ward; 25 of them (44.6%) for management of worsening of the skin disease, mainly atopic dermatitis, psoriasis, and drug reactions. There were 885 biopsies performed in 38.0% of the subjects and 751 patients (32.2%) required multidisciplinary care; most of them had some genodermatoses. CONCLUSIONS: Dermatologic disorders are very common in the pediatric age group and differ from those in adults, suffering influence from cultural, ethnic, socioeconomic, and environmental factors. Knowing the magnitude and distribution of these dermatoses is important to better plan healthcare policies.

Immunosuppressant-induced cutaneous drug reactions in solid organ transplant recipients.

Solid organ transplant recipients (SOTRs) are susceptible to various cutaneous side effects as a consequence of long-term immunosuppressive therapy. Skin cancers and infections are well-studied complications that can cause death and/or allograft rejection. Other cutaneous drug reactions, such as inflammatory manifestations, have a high prevalence but are rarely studied. We analyzed these manifestations' prevalence and their association with immunosuppressants in transplant recipients from a Brazilian tertiary center. Among 532 SOTRs followed at our dermatology clinic, 60 (11.3%) developed some cutaneous adverse reactions to the immunosuppressants, with a median age at transplantation of 50.5 years and a median life span posttransplantation of seven years. Acneiform eruption was the most common drug reaction found (21 patients, 30.4%), followed by diffuse non-scarring alopecia (16 patients, 23.1%), lymphedema (10 patients, 14.5%), gingival hyperplasia (7 patients, 10.1%), hypertrichosis (6 patients, 8.7%) and sebaceous hyperplasia (9 patients, 13.1%). Adequate immunosuppression is an essential prerequisite for successful organ transplantation. In the immediate post-transplant period, significant immunosuppression is needed, but after that, the complications of excessive immunosuppression outweigh the risk of organ rejection. SORTs may present with a broad spectrum of inflammatory and cosmetic findings due to immunosuppressants that can impair life quality.