The dominant and recessive forms of cutis laxa.
نویسنده
چکیده
Cutis laxa is a very rare, genetically determined disorder of elastin, characterized clinically by a tendency of the skin to hang in loose folds, with the production of a typical grotesque facies and the appearance of premature ageing. These changes may be present at birth or may develop during infancy. Systemic ramifications may be widespread and, in particular, the pulmonary and cardiovascular systems may be involved. Although less than 30 genuine cases have been reported there have been several instances of serious disability or death from cardiorespiratory complications. On the other hand, a significant proportion of the affected patients have lived comparatively normal existences. In the course of a recent survey, in which complete ascertainment of all affected individuals in England and Wales was attempted, it became apparent that there were two forms of the condition,
منابع مشابه
PRESENTATION OF A PEDIGREE OF AN IRANIAN FAMILY WITH TWO MEMBERS WITH CUTIS LAXA AUTOSOMA LRECESSIVE TYPE I
Congenital cutis laxa is an exceptional condition. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. Their ...
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Hereditary cutis laxa comprises a heterogeneous group of connective tissue disorders characterized by loose skin and variable systemic involvement. Autosomal dominant and recessive as well as X-linked forms have been described. Some dominant forms are caused by mutations in the elastine gene (ELN). The X-linked form is now classified in the group of copper transport diseases. The genetic defect...
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Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmen...
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عنوان ژورنال:
- Journal of medical genetics
دوره 9 2 شماره
صفحات -
تاریخ انتشار 1972