Ceratodermia palmoplantar de Unna-Thost associada a pseudo-ainhum: relato de um caso

Abstract

Os autores relatam um caso de ceratodermia palmoplantar hereditária de Unna-Thost, de apresentação clínica atípica, bem como complicação do tipo estrangulamento ainhumóide no quinto dedo de ambos os pés. Os autores citam ainda outras ceratodermias palmoplantares hereditárias que podem cursar com pseudo-ainhum, bem como os critérios clínicos básicos que diferenciam essas manifestações.

Mal de Meleda: relato de 2 casos de ocorrência familiar

“…The first epidemiological study was carried out by Kogoj. [6][7][8] The autosomal recessive inheritance of the disease was described in 1938, and in 1998 mutations were identified in the ARS B gene on chromosome 8q24.3, which codes for SLURP-1 (the secreted Ly-6/uPAR protein related to mammals). 1,[9][10][11] SLURP1 is a late marker of epidermal differentiation, and there is a correlation between its location in the stratum granulosum and the a-7 acetylcholine nicotinic receptor.…”

“…Other findings include nail dystrophy affecting all the toes and fingers, brachydactyly, lichenoid eruption and contracture of the fingers with functional loss. 2,8,15 Mal de Meleda must be differentiated from other syndromes that present with diffuse palmoplantar keratoderma. This can be difficult because of the broad spectrum of clinical manifestations.…”

“…6 Unna-Thost syndrome is characterized by diffuse non-transgressive palmoplantar keratodermia with an autosomal dominant inheritance pattern and a mutation in the keratin 9 gene. 8 Naxos disease is an autosomal dominant condition caused by a deletion in the plakoglobin gene on chromosome 17q21, which presents with non-transgressive keratodermia in association with arrhythmogenic right ventricular cardiomyopathy and woolly hair. Huriez syndrome, an autosomal dominant condition, is caused by a mutation in a gene mapped to chromosome 4q23 and presents with diffuse palmoplantar keratodermia accompanied by sclerodactyly, atrophy and koilonychia.…”