Morais e Silva Fernanda Ayres de, Cunha Thiago Vinicius Ribeiro da, Boeno Elisangela dos Santos, Steiner Denise
Universidade de Mogi das Cruzes, Mogi das Cruzes, SP, Brasil.
An Bras Dermatol. 2011 Jul-Aug;86(4 Suppl 1):S100-3. doi: 10.1590/s0365-05962011000700026.
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.
梅勒达病是一种罕见的侵袭性掌跖角化病，估计患病率为十万分之一。1826年，斯图利首次在姆列特岛对其进行了描述。1938年描述了其常染色体隐性遗传，1998年将缺陷基因定位到8号染色体长臂末端。临床特征是掌跖角化异常的结果，包括严重的对称性侵袭性角化过度和手足呈手套袜套样红斑。近亲结婚的病例必须进行遗传咨询。我们报告了两例近亲父母后代中家族性发病的病例。
