Table of Content


Winter 2013, Vol. 21 No. 4

Hong Kong J. Dermatol. Venereol. (2013) 21, 197-200

Paediatric Dermatology Column: Case Report

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a Chinese case report and review of literature


K Wu 吳侃, W Zhang 張韡, YX Huang 黃瑩雪, JF Sun 孫建方


A 14-year-old Chinese girl presented with multiple congenital deformities, including linear and whorled hypo/hyperpigmented macules with pink/yellow nodules and plaques which generally followed the Blaschko lines. Asymmetry of the cranium, anonychia and dystrophic nails were also present. Systemic investigation revealed a persistent left superior vena cava and minor degree of pulmonary artery stenosis. The clinical picture and pathologic findings were consistent with focal dermal hypoplasia (FDH). Clinical features, histological features and the research progress of FDH will be discussed.


Keywords: Focal dermal hypoplasia, Goltz-Gorlin syndrome, Blaschko lines

關鍵詞: 局灶真皮發育不良、戈爾茨—格林綜合症、Blaschko線