Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.

Abstract:

:Three siblings with infantile-onset biotin-responsive multiple carboxylase deficiency are described. Recognition of the characteristic dermatologic manifestations, alopecia and periorificial dermatitis, should result in early diagnosis and institution of potentially lifesaving therapy with biotin. Other metabolic disorders may present a similar clinical picture. Immunologic dysfunction and/or aberration in lipid or branched chain amino acid metabolism may be the common pathophysiologic link in some or all of these disorders.

journal_name

J Am Acad Dermatol

authors

Williams ML,Packman S,Cowan MJ

doi

10.1016/s0190-9622(83)70113-1

subject

Has Abstract

pub_date

1983-07-01 00:00:00

pages

97-103

issue

1

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(83)70113-1

journal_volume

9

pub_type

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