Paediatric Dermatology Column: Case Report Focal dermal hypoplasia (Goltz-Gorlin syndrome): a Chinese case report and review of literature

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.