Cutis Laxa

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the siblings also had similar features and wrinkled skin.

Our case had markedly loose and wrinkled skin especially over the dorsum of the hands and feet, and on the face and abdomen, dolichocephaly, hypertelorism, blepharochalasis, long filtrum, pectus excavatus, large fontanelles, prominent low-set ears and umbilical hernia. These findings and skin biopsy were consistent with cutis laxa syndrome. In addition to these findings, consanguinity, atypical facies, large fontanelles and umbilical hernia were typical manifcutis laxa.
estations of type II autosomal recessive

Cutis laxa is a genetically heterogeneous group of connective tissue diseases characterized by skin that hangs in loose folds. The most apparent defect is loose, redundant, nonresilient skin, but systemic connective tissue abnormalities also exist, especially in conjunction with the early onset or autosomal recessive variety. Disorders with cutis laxa are presently divided into five types: an autosomal dominant type, an X-linked recessive type and an autosomal recessive type that is further divided into three subtypes.










source: http://www.turkishjournalpediatrics.org/pediatrics/pdf/pdf_TJP_86.pdf