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Anderson‐Fabry disease
Author(s) -
BREATHNACH S.M.,
BLACK M.M.,
WALLACE H.J.
Publication year - 1980
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1980.tb15841.x
Subject(s) - angiokeratoma , fabry disease , fabry's disease , medicine , pathology , disease , dermatology
SUMMARY Electron microscopy of clinically uninvolved skin taken from a 12‐month‐old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothclial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected with Anderson‐Fabry disease long before the development of specific skin lesions.