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A case report of Bart syndrome
Seyed Amirabbas Sharif1, Alieh Mohammadzadeh1, Mohammad Mahdi Heidari1
1Department of Pediatric Kashan University of Medical Sciences Kashan Iran.
Clinical Case Reports
|June 29, 2023
Summary
Bart syndrome, a rare genetic disorder, presents with epidermolysis bullosa, aplasia cutis, and nail issues. This report details a unique case in an Afghan newborn, marking the first documented instance in this population.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Bart syndrome is a rare disorder defined by epidermolysis bullosa, aplasia cutis, and nail abnormalities.
- Aplasia cutis congenita type VI was initially identified in 1966.
Observation:
- This article presents a case of Bart syndrome in a male Afghan newborn.
- The patient exhibited typical Bart syndrome features along with an ear malformation.
Findings:
- This case represents the first documented occurrence of Bart syndrome within an Afghan family.
- The presentation included epidermolysis bullosa, aplasia cutis, nail abnormalities, and a unique ear malformation.
Implications:
- This report expands the known phenotypic spectrum of Bart syndrome.
- It highlights the importance of genetic counseling and early diagnosis in diverse populations.
- Further research is needed to understand the genetic underpinnings and prevalence in underrepresented ethnic groups.
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