Sarkar Shatanik, Patra Chaitali, Das Amit, Roy Sutirtha
Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India.
Indian J Dermatol. 2015 Mar-Apr;60(2):215. doi: 10.4103/0019-5154.152608.
Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus. Majority of the cases are sporadic, mainly due to postzygotic somatic mutations. The clinical spectrum includes characteristic cutaneous manifestations, multiple skeletal anomalies, and involvement of the eyes, hair, nails, kidneys, and so on. Considerable variability is noted in the clinical expression of the disease probably due to genomic mosaicism. Around 300 cases of Goltz syndrome have been reported in the literature. Here, we report such a case with characteristic skin lesions, multiple bony defects, distinctive facial features, coloboma of iris, and bilateral hydronephrosis. The diagnosis was evident immediately after birth due to the characteristic clinical picture of the baby.
戈尔茨综合征或局灶性真皮发育不全是一种罕见的多系统疾病，累及所有三个胚层。该疾病被认为以X连锁显性方式遗传，在Xp11.23位点的PORCN基因存在异质性突变。大多数病例为散发性，主要是由于合子后体细胞突变。临床谱包括特征性皮肤表现、多发性骨骼异常以及眼睛、毛发、指甲、肾脏等受累。由于基因组镶嵌现象，该疾病的临床表型存在相当大的变异性。文献中已报道约300例戈尔茨综合征病例。在此，我们报告一例具有特征性皮肤病变、多发性骨缺损、独特面部特征、虹膜缺损和双侧肾积水的病例。由于婴儿具有特征性临床表现，出生后诊断立即明确。
