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Microphthalmia with linear skin defects: a case report and review
Vishakha M Sharma1, Arlene M Ruiz de Luzuriaga, Darrel Waggoner
1Department of Medicine, Section of Dermatology, University of Chicago, Chicago, Illinois, USA. Vishakha.sharma@uchospitals.edu
Pediatric Dermatology
|October 28, 2008
Summary
Microphthalmia with linear skin defects (MLS) syndrome, an X-linked disorder, involves ocular anomalies and skin defects. Genetic analysis reveals a deletion at Xp22, implicating the HCCS gene in apoptosis regulation.
Area of Science:
- Genetics
- Developmental Biology
- Ophthalmology
Background:
- Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant disorder.
- It presents with severe ocular abnormalities and characteristic linear skin defects.
Observation:
- The syndrome is associated with a specific deletion on the X chromosome at the Xp22 region.
- This region encompasses the HCCS gene, encoding holocytochrome c-type synthase.
Findings:
- The HCCS gene plays a crucial role in regulating apoptosis.
- A patient with classic clinical and genetic findings of MLS syndrome was identified.
Implications:
- Understanding the genetic basis of MLS syndrome aids in diagnosis and management.
- The role of HCCS in apoptosis may offer insights into other developmental disorders.
