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.