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Dyskeratosis congenita: a case report
V N Sehgal1, D M Thappa, R C Sharma
1Department of Dermatology, Lady Hardinge Medical College, New Delhi, India.
The Journal of Dermatology
|January 1, 1993
Summary
Dyskeratosis congenita is a rare condition, particularly in women. This case study details a 30-year-old female patient with partial disease expression, including skin and nail abnormalities.
Area of Science:
- Dermatology
- Genetics
- Rare Diseases
Background:
- Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome.
- It is characterized by the triad of mucocutaneous findings, bone marrow failure, and predisposition to solid tumors.
- DC is exceptionally uncommon in females.