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A Specific Skin Lesion in Gargoylism

AMA Am J Dis Child. 1960;99(4):444-450. doi:10.1001/archpedi.1960.02070030446007.
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The finding of identical bizarre skin lesions in two young boys with gargoylism has prompted a review of the literature and the discovery of six additional cases. These skin manifestations are unique in their appearance and localization and are believed to be specific in gargoylism.

Report of Two Cases  CASE 1.—This patient, aged 5 years, was admitted to the Pediatric Service of Colorado General Hospital in July, 1952, for investigation and diagnosis of a peculiar skin condition on his arms, back, and legs. The family history was interesting in that seven relatives on the maternal side had died early in life with signs and symptoms suggestive of gargoylism.The patient weighed 7 lb. at birth and had a misshapen head and flattened face. Umbilical and right inguinal hernias were present. From birth an inability to straighten his arms was noted, and movement of the ankles was limited. There was no


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