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Dyskeratosis congenita (DC) is a rare disease of multiple inheritances

, due to telomere attrition secondary to mutation in genes encoding telomerase.1 It mainly involves ectoderm, manifesting as mucocutaneous and haematopoietic disorder with varied somatic involvement.

The X-linked recessive form (85%) is the most severe form of DC [also known as HoyeraalHreidarsson syndrome]. It occurs due to mutation in DKC1 gene at Xq28, which codes for nucleoprotein dyskerin, a component of H/ACA small ribonucleoprotein particle involved in ribosomal assembly and RNA production.2 The autosomal dominant form (15%) occurs due to mutation of TERC or TERT gene, which are RNA and enzymatic component of enzyme telomerase.2 Mutations responsible for autosomal recessive inheritance are not reported yet. The recessive form is known to have more physical anomalies and higher incidence of aplastic anaemia and carcinoma. Our case shows hyperdiploidy with loss of X chromosome, suggestive of possible X-linked inheritance.

Clinically, DC presents as classical triad of lacy reticulate skin pigmentations (89%), nail dystrophy (88%) and mucosal leukoplakia (78%) by the end of first decade as seen in our patient.2, 3 Histologically, there is atrophy of epidermis with disappearance of rete ridges and cleft formation at dermo-epidermal junction, which on electron microscopy corresponds to sporadic degeneration of basal cell and vacuole formation in its cytoplasm respectively.4 In the second decade, patient develops bone marrow failure due to haematopoietic cell attrition. Other manifestations known to occur are epiphora due to bilateral NLD obstruction, blepharitis and conjunctivitis, loss of eye lashes, cataract, bilateral retinal haemorrhage and optic atrophy. There is increased predisposition to squamous carcinoma of oropharynx, adenocarcinoma of GIT and myelodysplastic syndrome usually in the 3rd to 4th decade.2, 5 As telomere plays central role in cell fate and ageing, there is premature ageing and graying. Rarely cerebellar hypoplasia with microcephaly can also occur.

No specific treatment is available. Androgen and low dose steroids have been tried with little improvement in bone marrow status, which is the most common cause of mortality.2, 6 Allogenic human stem cell transplantation has also been tried. Other modalities like GM-CSF and G-CSF are also under consideration.

We here present a novel association between DC and SLE, which necessitates studies to find the temporal association. Hence we emphasize the need to work up for SLE markers in a case presenting with feature of dyskeratosis congenita. Also it is of prime importance to know if SLE features are being masked by DC as the treatment modalities of these two entities are different.

by: Manjusha Goelemail

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