PDF(Pubmed)
Abstract：
UNASSIGNED: Focal dermal hypoplasia (Goltz syndrome) is a genetic multisystem disorder characterized primarily by involvement of the skin associated to face, skeletal, and eyes anomalies. The objective of the present series is to shed light on this rare syndrome and these atypical manifestations.
UNASSIGNED: Our study reports the case of five Moroccan patients who present typical clinical picture of the Goltz syndrome with some rare manifestations.
UNASSIGNED: A total of 5 patients with Goltz syndrome were evaluated. All of them are female with one familial case. The age ranged from 8 months to 35 years. A characteristic Blaschkoid hypo- and hyper-pigmented skin lesions, congenital nodular fat herniation, and skin atrophy were present in all patients. Ocular manifestations were present in 80% of patients. Cranio-facial deformity was seen in 80% of patients. Short stature and intellectual delay were documented in 80% and 40% of patients, respectively. Limb abnormality was found in all patients. Two patients had a cleft lip, one of which unusual lateral facial cleft.
UNASSIGNED: Genetic testing could not be performed in the present series.
UNASSIGNED: Through this work we will discuss the different clinical signs and genetic aspects of Goltz syndrome and the interest of a good clinical expertise.
UNASSIGNED: Our study reports the case of five Moroccan patients who present typical clinical picture of the Goltz syndrome with some rare manifestations.
UNASSIGNED: A total of 5 patients with Goltz syndrome were evaluated. All of them are female with one familial case. The age ranged from 8 months to 35 years. A characteristic Blaschkoid hypo- and hyper-pigmented skin lesions, congenital nodular fat herniation, and skin atrophy were present in all patients. Ocular manifestations were present in 80% of patients. Cranio-facial deformity was seen in 80% of patients. Short stature and intellectual delay were documented in 80% and 40% of patients, respectively. Limb abnormality was found in all patients. Two patients had a cleft lip, one of which unusual lateral facial cleft.
UNASSIGNED: Genetic testing could not be performed in the present series.
UNASSIGNED: Through this work we will discuss the different clinical signs and genetic aspects of Goltz syndrome and the interest of a good clinical expertise.
摘要：
■局灶性真皮发育不全（Goltz综合征）是一种遗传性多系统疾病，其特征主要是与面部相关的皮肤受累，骨骼，和眼睛异常。本系列的目的是阐明这种罕见的综合征和这些非典型的表现。
■我们的研究报告了五名摩洛哥患者的病例，这些患者表现出典型的Goltz综合征临床表现，并有一些罕见的表现。
■共评估了5例戈尔茨综合征患者。他们都是女性，只有一个家族病例。年龄从8个月到35岁不等。特征性Blaschkoid低色素沉着和色素沉着过度的皮肤病变，先天性结节性脂肪疝,所有患者均存在皮肤萎缩。80％的患者出现眼部表现。80％的患者出现颅面畸形。80%和40%的患者有身材矮小和智力延迟的记录，分别。所有患者均发现肢体异常。两个病人唇裂,其中一种不寻常的侧面裂痕。
■本系列无法进行基因检测。
■通过这项工作，我们将讨论Goltz综合征的不同临床体征和遗传方面以及对良好临床专业知识的兴趣。
■我们的研究报告了五名摩洛哥患者的病例，这些患者表现出典型的Goltz综合征临床表现，并有一些罕见的表现。
■共评估了5例戈尔茨综合征患者。他们都是女性，只有一个家族病例。年龄从8个月到35岁不等。特征性Blaschkoid低色素沉着和色素沉着过度的皮肤病变，先天性结节性脂肪疝,所有患者均存在皮肤萎缩。80％的患者出现眼部表现。80％的患者出现颅面畸形。80%和40%的患者有身材矮小和智力延迟的记录，分别。所有患者均发现肢体异常。两个病人唇裂,其中一种不寻常的侧面裂痕。
■本系列无法进行基因检测。
■通过这项工作，我们将讨论Goltz综合征的不同临床体征和遗传方面以及对良好临床专业知识的兴趣。
