Madeeha Subhan Waleed¹, Waleed Sadiq², Muneeba Azmat³ and Uzzam Ahmed Khawaja^{4, *}

 ¹Ayub Medical College, Abbottabad, Pakistan

²Staten Island University Hospital, New York, USA

³Ayub Medical College, Abbottabad, Pakistan

⁴Jinnah Medical and Dental College, Karachi, Pakistan

*Corresponding author: Khawaja UA, Jinnah Medical and Dental College, Karachi, Pakistan

Abstract
Dyskeratosis congenita (DC) also known as Zinsser-Engman-Cole syndrome is very uncommon. The primary clinical features include oral leukoplakia, nail dystrophy, and reticular skin pigmentations. Hoyeraal–Hreidarsson syndrome (HH) is a variant of DC and has a multi system involvement. It commonly affects males and presents with aplastic anemia, multiple infections, cerebellar-hypoplasia and growth retardation. The etiology is unknown.

Case presentation
A 10 years of age female patient from Pakistan presented to the pediatrics outpatient department with painful mouth ulcers, dryness of skin, hair loss and drying of the scalp for the past 3 years. She was born at full-term, and her parents had a non-consanguineous marriage. She was the only child of a 28-year-old mother. At birth, her head circumference was 27 cm. The patient had delayed milestones. Laboratory investigations are given below in table 1. Physical examination showed oral white patches showing oral leukoplakia and acute necrotizing ulcerative gingivitis (ANUG) with focal acute pseudomembranous candidiasis with dental caries as shown in figure 1. She also had full body xerosis. She was micro cephalic, with sparse eyebrows and eye lashes, dystrophic fingernails as shown in figure 2. The skin of soles was hyperkeratotic. Rest of the examination was unremarkable. Her weight, height and head circumference were under 3rd centile. Her Echocardiogram showed hypertrophied left ventricle with evidence of aortic stenosis (13.2 mm 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 (CT) scan showed cerebellar hypoplasia as shown in figure 4. The patient was started on oral retinoid treatment for the oral lesions. Topical steroid ointment was prescribed for external use for the oral lesions. Patient was regularly monitored for any dermatological, hematological, and malignant changes.

Table 1: Laboratory investigations

Figure 1: Oral leukoplakia and acute necrotizing ulcerative gingivitis

Figure 2: Dystrophic fingernails

Figure 3: Echocardiography report showing aortic stenosis

Figure 4: 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 this clincial manisfestation to help decrease morbidity and mortality.