Case Reports : A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations
의약학 > 피부과학
( Dae Hun Kim ) , ( Soo Yeon Kim ) , ( Myung Im ) , ( Young Lee ) , ( Young Joon Seo ) , ( Jeung Hoon Lee )
Annals of Dermatology 2013년, 제25권 제1호, 95~98페이지(총4페이지)
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    A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of dispersed skin lesions and hypohidrosis, no other complaints or symptoms were present. Histological evaluation of the skin lesions revealed angiokeratomas. When this combination of clinical and histological findings is observed, Fabry disease is suspected. Biochemical examination performed for definitive diagnosis did not show any activity of the α-galactosidase A enzyme. Through identification of a c.182_183ins(GA) mutation of the GLA gene, Fabry disease was diagnosed. However, there was no particular abnormal finding with regard to the evaluation of non-cutaneous manifestations, a symptom that can occur in the progress of this disease. We reported a case of Fabry disease, restricted to the dermatologic presentation, involving a novel frameshift mutation in the GLA gene. (Ann Dermatol 25(1) 95∼98, 2013)
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