A pedigree which includes five males and one female with clinical evidence of angiokeratoma corporis diffusum universale (ACD) is presented. The pattern of involvement lends support to a sex-linked, recessive mode of transmission. ACD cutaneous lesions were examined by histochemical methods, and the results and conclusions are discussed. Cutaneous vasomotor and sudomotor reactions to intradermally injected chemical agents are recorded. The finding of a peculiar histiocytic cell in the bone marrow aspirate is described.
von GEMMINGEN G, KIERLAND RR, OPITZ JM. Angiokeratoma Corporis Diffusum (Fabry's Disease). Arch Dermatol. 1965;91(3):206–218. doi:10.1001/archderm.1965.01600090014003
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: