Korean J Dermatol.  2008 Jan;46(1):122-125.

A Case of Goltz Syndrome

Affiliations
  • 1Department of Dermatology, Chonnam National University Medical School, Gwangju, Korea. schul@chonnam.ac.kr

Abstract

Goltz syndrome or focal dermal hypoplasia, is a rare genodermatosis, characterized by multiple abnormalities of mesodemal and ectodermal organs. Cutaneous manifestations include linear or cribriform atrophied patches with telangiectasia following Blaschko line and papillomas. The majority of patients also have skeletal abnormalities, such as syndactyly, oligodactyly, scoliosis, and short stature. Furthermore, various ophthalmic and dental manifestations have been reported. We report a case of Goltz syndrome occurring in a 2-year old female with asymptomatic erythematous atrophic patches with purpuric macules and telangiectasia mainly on extremities. She also had hypotrichia on vertex and a notching-like cleft on upper lip. A skin biopsy performed on her atrophic patch on the leg revealed dermal hypoplasia. The final diagnosis was made by typical cutaneous manifestations and histopathological findings compatible with focal dermal hypoplasia.

Keyword

Focal dermal hypoplasia; Goltz syndrome

MeSH Terms

Abnormalities, Multiple
Biopsy
Ectoderm
Extremities
Female
Focal Dermal Hypoplasia
Humans
Leg
Lip
Papilloma
Scoliosis
Skin
Syndactyly
Telangiectasis
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