Abnormal lamellar granules in a case of CHILD syndrome.
BACKGROUND
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.


RESULTS
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.


CONCLUSIONS
These findings suggested that abnormal lipid metabolism involving lamellar granules may be responsible to the skin lesion of CHILD syndrome.
Ishibashi
Masafumi
M
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan. ishi@sc.itc.keio.ac.jp
Matsuda
Fumio
F
Oka
Hiroshi
H
Ishiko
Akira
A
D000015:Abnormalities, Multiple; D000328:Adult; D003594:Cytoplasmic Granules / Q000378:metabolism / Q000648:ultrastructure*; D005260:Female; D005487:Foam Cells / Q000648:ultrastructure; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital; D007150:Immunohistochemistry; D015603:Keratinocytes / Q000378:metabolism / Q000648:ultrastructure*; D017880:Limb Deformities, Congenital; D046529:Microscopy, Electron, Transmission; D013577:Syndrome; D014973:Xanthomatosis / Q000151:congenital* / Q000473:pathology