Bathing suit ichthyosis.

[lamellar ichthyosis]

Bathing suit ichthyosis (BSI ) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1 ) gene mutations leading to a temperature sensitive phenotype . It is characterized by dark-grey or brownish scaling restricted to the 'bathing suit ' areas , whereas the extremities and central face are almost completely spared . We report a 2 -year -old African girl with BSI with ultrastructural and biochemical demonstration of TGase-1 deficiency over the affected skin . TGase-1 gene analysis disclosed the homozygous p .R 315 L mutation , which may lead to a temperature sensitive dysfunction of the enzyme .