Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

SUMMARY OBJECTIVE: Oculocutaneous albinism describes a group of pigmentary disorders that lead to skin sensitivity and predisposition to skin malignances. Aims: To analyze clinical and epidemiological data in oculocutaneous albinism patients and to determine the prevalence of malignant skin lesions, assessing possible risk factors for skin cancer. METHODS: Cross-sectional study evaluating epidemiological data, habits of sun exposure and sun protection, and clinical examination of albino patients followed in a reference dermatology outpatient clinic in Brasil. Our primary outcome was the occurrence of malignant skin lesions in biopsied tissues. RESULTS: Of 74 patients analyzed, 11 (15%) had one or more suspicious lesions and were biopsied, of which 8 (72.7%) patients presented with basal cell carcinomas, 7 (63.3%) presented with squamous cell carcinoma, and 1 (9%) presented with melanoma. Moreover, 32(43%) patients presented with actinic keratosis. Age, female gender, previous history of sunburn, history of malignant lesions and history of sun exposure without photoprotection were associated with the presence of malignant lesions. Limitations: Unicentric, non-aleatory sample. CONCLUSIONS: There was a high prevalence of malignant and pre-malignant lesions in this population. Some potentially modifiable risk factors were associated with the occurrence of malignant skin lesions.

Do you know this syndrome? / Você conhece esta síndrome?

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

A hipertricose Lanugionsa Congênita é uma desordem genética rara, autossômica dominante, com menos de 50 casos descritos na literatura. É caracterizada por pêlo lanugo excessivo, poupando apenas membranas mucosas, palmas e plantas. Pode estar associada a outras anormalidades orgânicas, devendo ser de conhecimento do dermatologista. Discutiremos aspectos da síndrome em questão a partir do relato de caso de uma paciente do sexo feminino, negra, 02 anos, com apresentação clínica clássica, sem outras anormalidades congênitas associadas.

Psoríase eritrodérmica refratária em criança com excelente resposta ao etanercepte / Refractory erythrodermic psoriasis in a child with an excellent outcome by using etanercept

A psoríase acomete 0,12 por cento a 0,71 por cento da população infantil, sendo que a forma eritrodérmica, grave e rara, ocorre em menos de 1,5 por cento dos casos. Os antagonistas do Fator de Necrose Tumoral-α (TNFα) constituem nova classe de drogas, utilizada para tratamento da psoríase grave a moderada, refratária às terapias convencionais. O Etanercepte é uma proteína de fusão do receptor do TNF-α, aprovada pelo Food and Drug Administration para tratamento da artrite reumatoide juvenil no grupo infantil. Apresentamos um caso de criança com 7 anos de idade, com psoríase em placa desde 8 meses de vida, que evoluiu para eritrodermia refratária a ciclosporina e metotrexato, com excelente resposta ao etanercepte, sem feitos adversos.

Psoriasis affects 0.12 percent to 0.71 percent of all children. Erythrodermic psoriasis is an uncommon but serious disorder, occurring in less than 1.5 percent of cases. Tumor necrosis factor-alpha blockers (TNF-α) are a new class of drugs used to treat moderate to severe psoriasis refractory to conventional therapies. Etanercept is a TNFα receptor fusion protein, approved by the FDA for treating juvenile rheumatoid arthritis. We present the case of a 7-year-old suffering from plaque psoriasis since 8 months old which evolved into erythroderma refractory to cyclosporine and methotrexate. Patient responded excellently to etanercept, with no adverse side effects.