Table of Content

Archive

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

局灶性真皮發育不良(戈爾茨—格林綜合症):中國人病例一則及文獻回顧

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

Abstract

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.

一名十四歲華裔女孩自幼出現多種先天畸形,包括線狀或旋渦狀沿Blaschko線排列的色素減退或色素加深交替的斑片以及粉紅色或黃色結節和斑塊。並有顱骨不對稱,無甲及甲發育異常。系統檢查發現左上腔靜脈殘存及輕度肺動脈狹窄。其臨床表現及病理檢查結果符合局灶真皮發育不良。本文將討論局灶性真皮發育不良的臨床表現、組織學特徵及研究的進展。

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