Focal Dermal Hypoplasia: Case Series.

ABSTRACT:

Background

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.

Methodology

Our study reports the case of five Moroccan patients who present typical clinical picture of the Goltz syndrome with some rare manifestations.

Results

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

SUBMITTER: Mansouri M 

PROVIDER: S-EPMC10162763 | biostudies-literature | 2023 Jan-Feb

REPOSITORIES: biostudies-literature