Giampietro Philip F, Babu Deepti, Koehn Monica A, Jacobson Daniel M, Mueller-Schrader Karla A, Moretti Cara, Patten Stella F, Shaffer Lisa G, Gorlin Robert J, Dobyns William B
Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin, USA.
Am J Med Genet A. 2004 Jan 15;124A(2):202-8. doi: 10.1002/ajmg.a.20377.
Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP). All but OCCS have been reported to follow an X-linked inheritance pattern. We describe a 14-year-old girl with clinical features overlapping with these disorders. She had mild mental retardation, macrocephaly, microphthalmia, right-sided morning glory optic disc anomaly, palmar and lip pits, and polysyndactyly. A swirling pattern of skin hypopigmentation, papular hypopigmented and herniated skin lesions reminiscent of FDH most prominent over her face, head, hands, and feet was evident. Brain magnetic resonance imaging (MRI) showed polymicrogyria (most severely in the perisylvian and mesial frontal regions), enlarged left lateral ventricle, partial agenesis of the corpus callosum, and optic nerve tumor on the right. Dermatopathologic examination of the skin lesions was consistent with basaloid follicular hamartomas. The skin and digit anomalies observed overlap with FDH, but polymicrogyria, basaloid follicular hamartomas, optic nerve tumor, and morning glory anomaly have not previously been described in FDH. Skin defects in MLS are linear and the eyes typically have sclerocornea. Polymicrogyria has been described in OCCS, but not in any of the other three syndromes. The limb anomalies in TODP are reductions rather than polysyndactyly. Skin defects are localized to the face, and digital fibromas usually occur. While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome.
区域性皮肤发育不全已在多种遗传综合征中被描述，包括局灶性真皮发育不全（FDH）、伴有线状皮肤缺损的小眼畸形（MLS）、眼脑皮肤综合征（OCCS）以及末端骨发育异常和色素沉着缺陷（TODP）。除OCCS外，其他均报道遵循X连锁遗传模式。我们描述了一名14岁女孩，其临床特征与这些疾病重叠。她有轻度智力发育迟缓、巨头畸形、小眼畸形、右侧牵牛花状视盘异常、手掌和唇部凹陷以及多指（趾）畸形。皮肤色素减退呈漩涡状，面部、头部、手部和足部可见丘疹性色素减退和突出的皮肤病变，类似FDH，最为明显。脑磁共振成像（MRI）显示多小脑回（最严重的是在外侧裂周围和额叶内侧区域）、左侧侧脑室扩大、胼胝体部分发育不全以及右侧视神经肿瘤。皮肤病变的皮肤病理检查与基底样滤泡错构瘤一致。观察到的皮肤和手指异常与FDH重叠，但多小脑回、基底样滤泡错构瘤、视神经肿瘤和牵牛花状异常此前在FDH中尚未有描述。MLS中的皮肤缺损是线状的，眼睛通常有巩膜角膜。多小脑回在OCCS中有描述，但在其他三种综合征中均未提及。TODP中的肢体异常是发育不全而非多指（趾）畸形。皮肤缺损局限于面部，通常会出现指状纤维瘤。虽然所讨论的这四种综合征之间存在显著重叠，但我们认为在这个女孩中观察到的一系列异常最有可能构成一种新认识的综合征。
