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Focal Dermal Hypoplasia: Case Series
Maria Mansouri1, Fatima Zohra Bouzid1, Said Amal2,3
1Department of Genetics, Clinical Research Center, Mohammed VI University Hospital, Marrakech, Morocco.
Indian Journal of Dermatology
|May 8, 2023
Summary
Focal dermal hypoplasia, or Goltz syndrome, is a rare genetic disorder affecting skin, eyes, and skeletal structure. This study highlights five Moroccan patients with typical Goltz syndrome, including rare manifestations.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder.
- Characterized by skin anomalies, it also affects facial, skeletal, and ocular systems.
- This study focuses on atypical manifestations of Goltz syndrome.
Observation:
- Five Moroccan patients (all female, one familial case) aged 8 months to 35 years were evaluated.
- All patients presented with Blaschkoid pigmentary skin lesions, congenital nodular fat herniation, and skin atrophy.
- Ocular and craniofacial deformities were observed in 80% of patients, with limb abnormalities in all.
Findings:
- Common findings included skin lesions, fat herniation, and atrophy.
- High prevalence of ocular (80%), craniofacial (80%), and limb abnormalities (100%).
- Short stature (80%) and intellectual delay (40%) were also noted, with one case of unusual lateral facial cleft.
Implications:
- This case series emphasizes the diverse clinical spectrum of Goltz syndrome.
- Highlights the importance of clinical expertise in diagnosing rare genetic disorders.
- Further research into genetic aspects and management strategies is warranted.
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