Her Echocardiogram showed Hypertrophied left ventricle with evidence of aortic stenosis (13.2mm of hg) and moderate regurgitation of aortic valve with trace of mitral regurgitation as shown in Figure 3.Rest of the examination was unremarkable. Bone marrow aspiration study showed aplastic anemia.Computerized tomography showed cerebellar hypoplasia as shown in Figure 4. Oral retinoid was started for treatment of oral lesions. Topical steroid ointment for external use for oral lesions. Patient was constantly monitored for any dermatological, hematological and malignant changes.
Discussion: DC has characteristic features such as nail dystrophy, hyper pigmentation of skin and oral leukoplakia [7].The disease is very rare and in Pakistan this is the first case reported for DC and HH.The age of onset of this disease is 5-15 years [8] .Our patient was ten years old. ANUG is rare in DC , our patient had ANUG with oral leukoplakia. Bone marrow failure is a very late complication of DC [9].Our patient had deteriorating bone marrow function. Hoyeraal–Hreidarsson (HH) syndrome is a very uncommon type of dyskeratosis congenita (DC). The patients have growth retardation, microcephaly, cerebellar hypoplasia, aplastic anemia and bone marrow failure [10].Our patient had growth retardation microcephaly and cerebellar hypoplasia.
Conclusion: Pancytopenia and other complications as a result of DC can lead to immunological disturbances making the person more prone to infection and death. The etiology of the disease and the treatment is still not known. More studies should be done on it to help decrease morbidity and mortality.
No conflict of interest.
Research is not funded
Author Contributions:Both authors helped in writing and editing the article.