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Initial Cutaneous Manifestations of Hutchinson‐Gilford Progeria Syndrome
Author(s) -
Rork Jillian F.,
Huang Jennifer T.,
Gordon Leslie B.,
Kleinman Monica,
Kieran Mark W.,
Liang Marilyn G.
Publication year - 2014
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12284
Subject(s) - medicine , progeria , scalp , dermatology , hyperpigmentation , abdomen , premature aging , surgery , physiology , biochemistry , gene , chemistry
Abstract Hutchinson– G ilford progeria syndrome ( HGPS ) is a rare, uniformly fatal, premature aging disease with distinct dermatologic features. We sought to identify and describe the initial skin and hair findings as potential diagnostic signs of the disease. We performed a chart review of the structured initial intake histories of 39 individuals with HGPS enrolled in clinical trials from 2007 to 2010 at B oston C hildren's H ospital, limited to cutaneous history from birth to 24 months. Medical photographs were provided through the clinical trials and the P rogeria R esearch F oundation M edical and R esearch D atabase at B rown U niversity C enter for G erontology and H ealthcare R esearch. All 39 patients reported skin and hair abnormalities within the first 24 months of life. Pathologies included sclerodermoid change, prominent superficial veins, dyspigmentation, and alopecia. The mean age of presentation for each finding was <12 months. The most frequently reported skin feature was sclerodermoid change, which commonly involved the abdomen and bilateral lower extremities. Prominent superficial vasculature manifested as circumoral cyanosis and pronounced veins on the scalp and body. Hypo‐ and hyperpigmentation were observed over areas of sclerodermoid change. Scalp alopecia progressed in a distinct pattern, with preservation of the hair over the midscalp and vertex areas for the longest period of time. HGPS has distinct cutaneous manifestations during the first 2 years of life that may be the first signs of disease. Awareness of these findings could expedite diagnosis.