%0 Journal Article
%@ 2562-0959
%I JMIR Publications
%V 7
%N 
%P e49573
%T An Unusual Case of Anderson-Fabry Disease: Case Report
%A Mohta,Alpana
%A Mohta,Achala
%A Kumari,Pramila
%+ Department of Dermatology, Venereology and Leprosy, Sardar Patel Medical College, SP Medical College Rd, Bikaner, 334001, India, 91 8769036292, dralpanamohta10@gmail.com
%K angiokeratoma
%K Fabry disease
%K angiokeratoma corporis diffusum
%K vascular
%K capillary
%K capillaries
%K blood vessel
%K lysosome
%K lysosomal
%K enzyme
%K enzymatic
%K case report
%K circulatory
%K skin
%K dermatology
%K dermatological
%D 2024
%7 16.1.2024
%9 Case Report
%J JMIR Dermatol
%G English
%X Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease; however, current consensus states that it is also seen in various other lysosomal enzymatic deficiencies. In this report, we present the case of a 12-year-old boy who developed angiokeratoma corporis diffusum with sensorineural deafness, acroparesthesias, and renal involvement.
%M 38227354
%R 10.2196/49573
%U https://derma.jmir.org/2024/1/e49573
%U https://doi.org/10.2196/49573
%U http://www.ncbi.nlm.nih.gov/pubmed/38227354