Ann Dermatol.  2013 Feb;25(1):95-98. 10.5021/ad.2013.25.1.95.

A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations

• Kim DH
• Kim SY
• Im M
• Lee Y
• Seo YJ
• Lee JH

• KMID: 2265979
• DOI: http://doi.org/10.5021/ad.2013.25.1.95

Abstract

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 alpha-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.

Keyword

galactosidase A; Mutation; Skin manifestation

MeSH Terms

alpha-Galactosidase
Angiokeratoma
Asian Continental Ancestry Group
Fabry Disease
Frameshift Mutation
Humans
Hypohidrosis
Male
Skin
Skin Manifestations
alpha-Galactosidase

Figure

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  Fig. 1 (A, B) Numerous small, raised, reddish-purple maculopapules affecting the genital area and (C, D) lower trunk. These were more prominent and dense around the penis and scrotum, but tiny papules were peppered over the lower abdomen and back.

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  Fig. 2 Photomicrograph showing hyperkeratosis in the epidermis and dilated capillary vessels in the upper dermis (A: H&E, ×40; B: H&E, ×100).

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  Fig. 3 No activity of α-galactosidase B was observed. A c.182_183ins(GA) (pAsp61GlufsX32) mutation was identified at exon1.

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