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Congenital fascial dystrophy-further evidence of autosome recessive inheritance

Magda L.V. Matiotti^I; Francisco M. Salzano^II; Conrado A. Ruiz and José M. Pereira^III

^ICentro de Reabilitação Física, Faculdade de Ciências Médicas, Santa Casa de Misericórdia, Rua Cesário Mota, 112, 01221-020 São Paulo, SP, Brasil
^IIDepartamento de Genética, Instituto de Biociéncias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brasil. Send correspondence to F.M.S.
^IIIDisciplina de Dermatologia, Faculdade de Ciências Médicas, Santa Casa de Misericórdia, Rua Cesário Mota, 112, 01221-020 São Paulo, SP, Brasil

ABSTRACT

Two brothers with early-onset hardening of the skin in the dorsolumbar and gluteal regions, as well as in the thigh's proximal 1/3 are described. This lead to restricted hip and knee mobility. These characteristics plus the absence of disturbances in mucopolysaccharide metabolism or inflammatory processes, suggest that they are affected by congenital fascia! dystrophy. Their parents are normal and consanguineous (F - 0.2%). Review of the literature indicates the possibility that both autosomal dominant and recessive forms of this disease may exist, the present cases giving evidence favoring the latter.

Keywords: Congenital fascial; Dystrophy-further; Inheritance.

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