Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.

Abstract

A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.

• Authors: R M Winter, K D MacDermot, F J Hill
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 29 Issue 1 Pg. 209-16 (Jan 1988) ISSN: 0148-7299 [Print] United States
• PMID: 3344769 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Body Height
• Child
• Child, Preschool
• Ectodermal Dysplasia (diagnosis, genetics)
• Female
• Genes, Dominant
• Hair (abnormalities)
• Humans
• Incisor (abnormalities)
• Infant
• Male
• Pedigree
• Pigmentation Disorders (genetics)
• Thumb (abnormalities)