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S.‐E. Jung, Y. C. Kim, Hypohidrosis: an early clue in the diagnosis of Fabry disease, Clinical and Experimental Dermatology, Volume 40, Issue 4, 1 June 2015, Pages 444–445, https://doi.org/10.1111/ced.12501
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Conflict of interest: the authors declare that they have no conflicts of interest.
Fabry disease (FD) is an X‐linked lysosomal storage disorder resulting from deficient activity of α‐galactosidase A. Early manifestations of FD include cutaneous and peripheral neurological manifestations; cutaneous vascular lesions, such as angiokeratoma, angioma, and telangiectasia; lymphedema; sweating abnormalities; and acroparesthesis.
A 21‐year‐old man was evaluated for a 7‐year history of pain and burning sensation in his lower legs and feet. He was referred for dermatological evaluation of generalized hypohidrosis, which his parents had noticed shortly after his birth. The patient reported that he was unable to exercise, except for swimming, owing to heat intolerance that caused him to faint. He had a history of idiopathic thrombocytopenic purpura that had occurred at the age of 11 years, but was otherwise healthy.
On physical examination, the patient's palms and soles were seen to be very dry with an unusually large number of fine creases and wrinkles (Fig. 1). Additionally, he reported multiple, grouped, dot‐sized, bluish‐red maculopapules on his left arm, which had been present for 6 years (Fig. 2a,b).
