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Case Studies | Medicine | India | Volume 13 Issue 8, August 2024 | Rating: 5.1 / 10
A Case Study of Dyskeratosis Congenita: Clinical Manifestations and Diagnostic Challenges
Dr. Harsshika Bajaj | Dr. HB Prasad | Dr. Aparna Raskar
Abstract: Dyskeratosis congenita (DC), is a rare hereditary disorder predominantly affecting males and characterized by reticular skin pigmentation, nail dystrophy, and oral leukoplakia. This case study presents a 17 - year - old male diagnosed with DC, with classical triad of dystrophy of the nails, reticular skin pigmentation and oral leukoplakia along with additional complications including dyspnea, bilateral pedal edema, and multiple pathological fractures. Despite an early diagnosis in 2018, the patient received no treatment until recent symptoms prompted further medical intervention. This case underscores the importance of early diagnosis and ongoing management to mitigate the severe complications associated with DC.
Keywords: dyskeratosis congenita, anemia, bone marrow failure, pathological fractures
Edition: Volume 13 Issue 8, August 2024,
Pages: 274 - 278