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Niemann-Pick Disease: Report of a Case With Skin Involvement

MOHAMED K. MARDINI, MD, FAAP; PETER GERGEN, MD; MOHAMMED AKHTAR, MD, FCAP; MUSTAFA GHANDOUR, MD
Am J Dis Child. 1982;136(7):650-651. doi:10.1001/archpedi.1982.03970430082029.
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Niemann-Pick disease is a type of congenital lipidosis bearing a wide spectrum of clinical symptoms. We report the case of a 10-month-old female infant with Niemann-Pick disease who was found to have a unique skin lesion, involving both cheeks. Histological examination showed a large number of foamy histiocytes in the dermis resembling Niemann-Pick cells; electron microscopy showed these cells to contain a large number of whorled cytoplasmic structures, typically seen in this disease. We believe this is the first time that unequivocal involvement of the skin by Niemann-Pick disease has been demonstrated.

Report of a Case.—A 10-month-old girl had abdominal swelling, dyspnea, and weight loss at 6 months of age. When she was examined three months later at a local hospital, a heart murmur, hepatosplenomegaly, and a duplicated right kidney were found. The parents are first cousins. A male sibling died following respiratory tract infection at 2 years of

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