Generalized pustular psoriasis in a toddler with IL36RN mutation: a case report.

Generalized Pustular Psoriasis (GPP) is a dermatological autoinflammatory disease that rarely occurs in children and is associated with complex genetic factors. GPP pathogenesis has been associated with mutations in IL36RN gene, which encodes an interleukin-36 receptor antagonist. GPP usually occurs without a history of psoriasis in the patients or their family members. This case report describes the clinical course of a 3-year-old toddler with GPP. The diagnosis of GPP was confirmed through a comprehensive series of examinations, and genetic testing revealed an IL36RN mutation, providing further insight into the genetic basis of the condition. This case highlights the importance of a genetic perspective for diagnosing GPP, particularly in children.

Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis

Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature and immune system. The authors report the case of a patient with cutaneous lesions and histological findings that are compatible with the vesicular stage, emphasizing the importance of early diagnosis and appropriate therapeutic management.

Aspectos epidemiológicos do pênfigo foliáceo endêmico no Estado de Minas Gerais (1985 a 1987) / Epidemiologic aspects of the endemic foliaceous pemphigus in the state of Minas Gerais (1985 a 1987)

Os autores estudaram 318 pacientes com pênfigo foliáceo endêmico no Estado de Minas Gerais, atendidos nos níveis ambulatorial e hospitalar, entre 1985 e 1987. Näo foi observada predileçäo por sexo ou cor. Houve discreto predomínio de pacientes residentes na zona ruaral (57,3 por cento) ou que exerciam atividades próprias daquele meio (56 por cento). A ocorrência da doença foi maior na faixa etária entre dez e trinta anos (47,1 por cento). A localizaçäo inicial das lesöes foi preferencialmente a regiäo torácica anterior (32 por cento). A existência de casos familiares foi verificada em 8 por cento dos pacientes, todos geneticamente relacionados. O sinal de Nikolsky estava positivo em 83,1 por cento dos casos. A regiäo metalúrgica mostrou maior número de pacientes (25,8 por cento). Na terceira fase do estudo, realizada em Cachoeira da Prata, observou-se o mesmo padräo de distribuiçäo.