Mal de Meleda: a report of two cases of familial occurrence.

Abstract

Mal de Meleda is a rare transgressive palmoplantar keratoderma with an estimated prevalence of 1 in 100,000 individuals. It was first described in 1826 by Stulli on the island of Mljet. Its autosomal recessive inheritance was described in 1938, and the defective gene was localized to chromosome 8 qter in 1998. Clinical features are the result of abnormal palmoplantar keratinization and include severe symmetrical transgressive hyperkeratosis and erythema of the feet and hands in a glove-and-sock pattern. Genetic counseling is mandatory in cases of consanguinity. We report two cases of familial occurrence in the offspring of consanguineous parents.

• Authors: Fernanda Ayres de Morais e Silva, Thiago Vinicius Ribeiro da Cunha, Elisangela dos Santos Boeno, Denise Steiner
• Journal: Anais brasileiros de dermatologia (An Bras Dermatol) Vol. 86 Issue 4 Suppl 1 Pg. S100-3 ( 2011) ISSN: 1806-4841 [Electronic] Spain
• PMID: 22068784 (Publication Type: Case Reports, Journal Article)

Topics

• Aged
• Consanguinity
• Diagnosis, Differential
• Female
• Humans
• Keratoderma, Palmoplantar (genetics, pathology)
• Middle Aged
• Syndrome