Abnormal lamellar granules in a case of CHILD syndrome.

[child syndrome]

A 32 -year -old female had cutaneous and musculoskeletal changes consistent with congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD ) syndrome . She was born with the dysplastic , shortened right -sided arm and leg . Erythematous , hyperkeratotic lesion occurred on the trunk initially and extended to the right -sided arm and leg . Almost all area of her right -side body except the head and neck was covered by the erythematous lesion with yellow waxy scales , and the distal end of the rudimentary leg showed a verrucous appearance .The histology shared many features with verruciform xanthoma . Electron microscopy revealed vesicular structures in the intercellular spaces of the stratum corneum and vacuoles or vesicular structures in upper prickle cell layer . Some of them can be recognized as abnormal lamellar granules . Within the foamy cells in the papillary dermis , large vacuoles were found .These findings suggested that abnormal lipid metabolism involving lamellar granules may be responsible to the skin lesion of CHILD syndrome .