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Oman Medical Journal. 2013; 28 (4): 281-284
em Inglês | IMEMR | ID: emr-130326

RESUMO

Among the inherited bone marrow failure disorders, dyskeratosis congenita is an X-linked inherited disorder arising as a consequence of short telomere and mutations in telomere biology. Production of the altered protein dyskerin, leads to vulnerable skin, nails, and teeth which lead to higher permeability for noxious agents which can induce carcinogenesis accounting for the classical triad of skin pigmentation, nail dystrophy and oral leukoplakia. This condition is fatal and patients succumb to aplastic anemia, malignancy or immunocompromised state. We present a young male with the classic clinical triad and avascular necrosis of both femoral heads, with no evidence of hematologic anomaly or any malignancy. He was managed for osteonecrosis with uncemented total hip arthroplasty for the symptomatic left hip. Our case represents a benign form of such a fatal and rare condition, which if detected and managed early can result in improved quality of life for the patient suffering from this disorder. This patient is under our meticulous follow-up for the last 2 years in order to determine any late development of complications before being labelled as a variant of this syndrome


Assuntos
Humanos , Masculino , Disceratose Congênita/complicações , Disceratose Congênita/cirurgia , Gerenciamento Clínico , Leucoplasia , Osteonecrose
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