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Conradi-Hünermann-Happle syndrome
Rachael D Hartman1, Vered Molho-Pessach, Julie V Schaffer
1Department of Dermatology, New York University, New York, New York.
Dermatology Online Journal
|December 18, 2010
Summary
Conradi-Hünermann-Happle syndrome, a genetic disorder, presents with evolving skin changes and skeletal abnormalities. Diagnosis is confirmed by elevated 8(9)-cholestenol levels, linked to emopamil binding protein gene mutations.
Area of Science:
- Genetics
- Dermatology
- Skeletal Dysplasias
Background:
- Conradi-Hünermann-Happle syndrome (CHHS) is an X-linked dominant disorder.
- It is characterized by a spectrum of developmental abnormalities.
Observation:
- A seven-year-old girl presented with a complex phenotype.
- Initial red, scaly skin evolved into hypopigmentation and follicular atrophoderma along Blaschko lines.
- Additional findings included alopecia, microphthalmia, cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities.
Findings:
- Elevated plasma 8(9)-cholestenol levels confirmed the CHHS diagnosis.
- The syndrome is caused by mutations in the emopamil binding protein (EBP) gene.
- The case illustrates the progressive nature of clinical manifestations.
Implications:
- Understanding the evolution of CHHS clinical findings is crucial for early diagnosis and management.
- This case highlights the importance of genetic testing and biochemical markers in diagnosing rare skeletal dysplasias.
- Further research into EBP gene function may reveal therapeutic targets.
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