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Year : 2012  |  Volume : 7  |  Issue : 2  |  Page : 105-107

What is your diagnosis?

Department of Pediatrics, Gandhi Medical College, Bhopal, India

Correspondence Address:
Manjusha Goel
Department of Pediatrics, Gandhi Medical College, Bhopal
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Source of Support: None, Conflict of Interest: None

DOI: 10.1016/j.injr.2012.04.013

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Dyskeratosis congenita, an inherited disorder of telomere accretion primarily affects ectoderm, manifesting as skin, nail and mucosal changes. We here present a novel association of dyskeratosis congenita with systemic lupus erythematosus in a 10-year-old female. The patient had classical triad of lacy reticular skin pigmentations, nail dystrophy and mucosal leukoplakia. Also, she had pancytopenia, blepharitis, nasolacrimal duct obstruction, dental decay with gingival recession, tooth loss, hirsutism and atrophic scarring of palms. On funduscopy, pre-retinal and superficial flame shaped haemorrhages were present. Anti-double stranded DNA antibody and antinuclear antibodies were positive. On treatment with steroids, partial response was seen. It is further emphasized the need to investigate for markers of systemic lupus erythematosus in every case presenting as dyskeratosis congenita to establish the causal relationship between dyskeratosis congenita and systemic lupus erythematosus.

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