Article
Fabry's disease: heterozygous form of different expression in two monozygous twin sisters.
Dermatology (Basel, Switzerland) - 1 Jan 1993
Marguery M C, Giordano F, Parant M, Samalens G, Levade T, Salvayre R, Maret A, Calvas P, Bourrouillou G, Cantala P
Abstract excerpt
A 26-year-old woman presented widespread angiokeratomas predominantly in a swimsuit distribution pattern associated with acroparesthesia in all four limbs. The tentative diagnosis of Fabry's disease (FD) was confirmed by optical and electron-microscopic findings and by appropriate biochemical testing. The work-up showed ocular and renal manifestations of the disease. The monozygous twin sister of the patient was...
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