Introduction:
Dyskeratosis congenita (DC) and HH are inherited disorders .DC was first
studied by Zinsser in the year 1906 [1] and Engman recognized it as
a clinical condition in the year 1926 [2] and Cole in 1930 [3].
DC has a classical triad including reticular skin pigmentation, nail
dystrophy and oral leukoplakia. Whereas bone marrow involvement is the
most common cause of death [4]. The age of onset is 5 - 50 years.
The prevalence of the disease is 1 in 1 million individuals [5, 6].
Case presentation : A ten year old girl from Pakistan presented
to the pediatrics outpatient department with painful mouth ulcers,
dryness of skin, and hair loss and drying of the scalp since 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 47 cm
and head circumference 27 cm .Here milestones were achieved late.
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 finger nails 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. Laboratory investigations shown in Table 1.
Table 1:Complete Blood Picture