Pessoa V E, Surana R B
J Natl Med Assoc. 1979 Jan;71(1):69-70.
A case of focal dermal hypoplasia (FDH) or Goltz syndrome is described. The patient is a black female infant whose syndrome was first diagnosed at birth. This is a disorder of the mesoectoderm which is manifested by pigmentary skin changes similar to other disease entities, eg, incontinentia pigmenti and Rothmund-Thomson disease, but it is easily confirmed by specific significant histologic findings. The characteristic features are all noted in this infant throughout her follow-up, viz, atrophy and linear pigmentation of the skin, localized alopecia, papilloma and marked syndactyly. FDH is an X-linked condition and any physician caring for children should consider this diagnosis of the illness of the patient (especially female) who presents with the above dermal and skeletal changes.
本文描述了一例局灶性真皮发育不全（FDH）或戈尔茨综合征病例。患者为一名黑人女婴，其综合征在出生时首次被诊断。这是一种中胚层外胚层疾病，表现为与其他疾病实体（如色素失禁症和罗思蒙德 - 汤姆森病）相似的皮肤色素变化，但可通过特定的显著组织学发现轻松确诊。在该婴儿的整个随访过程中均观察到了特征性表现，即皮肤萎缩和线状色素沉着、局限性脱发、乳头状瘤以及明显的并指畸形。FDH是一种X连锁疾病，任何照料儿童的医生在遇到出现上述皮肤和骨骼变化的患者（尤其是女性）时，都应考虑这一疾病诊断。
