Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease

Abstract

Dyskeratosis congenita (DC) is a rare, progressive, multi-system, inherited disorder of telomere biology, first described in 1906 as the Zinsser-Engman-Cole syndrome. The condition presents with the classic triad of nail dystrophy, reticulate skin pigmentation, and oral leukoplakia. Variable somatic abnormalities may be present; these include pulmonary, gastrointestinal, genitourinary, cerebral, and dental complications. Pancytopenia eventually develops, progressing to bone marrow failure. In our patient, the progression of DC did not follow the "classic triad" typically seen in the condition. Here we report the case of a 27-year-old male who had features consistent with this syndrome but who had a normal oral cavity associated with aplastic anemia for which longstanding nail dystrophy and reticular pigmentation were the dominant clinical features. The patient was advised to avoid smoking and severe exposure to the sun, and to return regularly for follow-up. Because all symptoms of this disorder are not necessarily seen collectively in any one patient, physicians should consider it as a probability in all patients showing signs of reticular hyperpigmentation, especially accompanied by aplastic anemia. Our report emphasizes the fact that not all components of the syndrome need to be present and in all cases of genodermatosis, pleomorphism may be expected with variable clinical manifestations. Even though many variants have been described in literature, sparing of the oral cavity as in our patient is extremely uncommon. Therefore, physicians should be aware of the mucocutaneous manifestation of DC and its diagnosis and refer the patient for better evaluation.