Avascular necrosis of bone in dyskeratosis congenita.
A case of dyskeratosis congenita, a rare X-linked disorder, is presented. The patient had the classic triad of cutaneous findings: reticulated hyperpigmentation, nail dystrophy, and leukoplakia. In addition, a previously unreported finding developed, avascular necrosis of bone without systemic steroid therapy. Recognition of this disorder is important because pancytopenia and malignancy develop in up to 50 percent of patients.
D000328:Adult; D005271:Femur Head Necrosis / Q000150:complications*; D006801:Humans; D007972:Leukoplakia, Oral / Q000150:complications / Q000235:genetics; D008297:Male; D009264:Nails, Malformed; D010859:Pigmentation Disorders / Q000150:complications* / Q000235:genetics; D012871:Skin Diseases / Q000150:complications* / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome