Images in Clinical Practice Indian Pediatrics 2003; 40:576 |
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Congenital Cutis Laxa |
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A 2-year-old male patient presented with premature aging and unusual thin and pendulous elastic skin. There was slight delay in development of milestones. On examina-tion he weighed 10 kg, had a senile facies, loose and thin skin. Face revealed an antimongoloid slant, slightly everted nostril, prominent ears, epicanthic folds (Fig. 1). The joints were normal. There was no family history of a similar disease. On the basis of these clinical findings, a diagnosis of congenital Cutis laxa was made.
Cutis laxa is an autosomal recessive or autosomal dominant disorder. This has to be differentiated from Ehler Danlos syndrome where there is joint laxity in addition to the skin changes. Pathology is not exactly known. Few studies have shown that serum copper is low and urinary excretion high, consistent with the theory that low serum copper level produces a low elastase inhibitor substance with increased destruction of elastic fibers. Anoop Verma, Swapnil Nursing Home & Research Center, Civil Lines, Raipur,Chhatisgarh, India E-mail: [email protected]
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