Ghosh Sudip Kumar, Dutta Abhijit, Sarkar Sharmila, Nag Shanka Subhra, Biswas Surajit Kumar, Mandal Prabhakar
Department of Dermatology, Venereology, and Leprosy R.G.Kar Medical College, Kolkata, West Bengal, India.
Department of Pediatrics, North Bengal Medical College, West Bengal, India.
Indian J Dermatol. 2017 Sep-Oct;62(5):498-504. doi: 10.4103/ijd.IJD_317_17.
Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome.
This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India. Consecutive patients with the clinical diagnosis of Goltz syndrome were studied.
A total of 8 patients with Goltz syndrome were evaluated. Out of them, one patient was a boy and the rest were girl. The age ranged from 3 days to 9 years. There was no family history. A characteristic Blaschkoid hypo- and hyper-pigmented skin lesions, congenital nodular fat herniation, and skin atrophy were present in all patients. Congenital cutaneous aplasia was present in 50% of the patients. Facial asymmetry and ear deformity (megalopinna and low-set ears) were seen in 37.5% and 12.5% of patients, respectively. Cutaneous telangiectasia was noticed in 37.5% of patients. Freckle- and lentigines-like pigmentation within the hypopigmented macules was found in 25% of patients. Raspberry-like papillomas around mouth were documented in 6 (75%) patients. Dysplastic nail changes with ridging were seen in 7 (87.5%) patients. Genital abnormality in the form of bilateral undescended testes and microphthalmia with aniridia were found in one patient each. Limb defects were present in all patients. Left-sided renal agenesis was found in one patient. The patient also had multiple cortical cysts of the right kidney.
Genetic testing could not be performed in the present series.
Our case series showed a few unusual or extremely rare manifestations such as undescended testes, dermal sinus, kyphoscoliosis, aniridia, unilateral kidney agenesis, and renal cortical cysts among others.
局灶性真皮发育不全（戈尔茨综合征）是一种极为罕见的遗传性疾病，其特征为独特的皮肤表现以及涉及眼、牙、骨骼、泌尿、胃肠、心血管和中枢神经系统的广泛异常。本系列研究的目的是强调这种罕见综合征的不同典型特征以及不寻常特征。
这项横断面观察性研究在印度东部一家三级护理医院进行，为期8年。对临床诊断为戈尔茨综合征的连续患者进行研究。
共评估了8例戈尔茨综合征患者。其中，1例为男孩，其余为女孩。年龄范围为3天至9岁。无家族病史。所有患者均有特征性的沿布拉斯科线分布的色素减退和色素沉着皮肤病变、先天性结节性脂肪疝和皮肤萎缩。50%的患者存在先天性皮肤发育不全。分别有37.5%和12.5%的患者出现面部不对称和耳部畸形（大耳廓和低位耳）。37.5%的患者发现皮肤毛细血管扩张。25%的患者在色素减退斑内发现雀斑样和雀斑样色素沉着。6例（75%）患者记录到口周有覆盆子样乳头状瘤。7例（87.5%）患者出现有嵴的发育异常指甲改变。1例患者分别出现双侧隐睾和小眼无虹膜形式的生殖器异常。所有患者均有肢体缺陷。1例患者发现左侧肾缺如。该患者右肾还有多个皮质囊肿。
本系列研究未进行基因检测。
我们的病例系列显示了一些不寻常或极为罕见的表现，如隐睾、皮窦、脊柱侧凸、无虹膜、单侧肾缺如和肾皮质囊肿等。
