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Xeroderma pigmentosum-Cockayne syndrome complex
*For correspondence: devnishant@gmail.com
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This article was originally published by Wolters Kluwer - Medknow and was migrated to Scientific Scholar after the change of Publisher.
A 38 yr old male† presented to the department of Medicine, Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi, India, in April 2019, with fever and chest pain for the preceeding 15 days. Physical examination revealed microcephaly, weight of 38 kg, height of 146 cm, diffuse hypo/hyperpigmentation over the skin (Figs 1-3), multiple joint contractures, coarse crackles in the right lung field and intelligence quotient (IQ) of 31-36. Born of a non-consanguineous marriage and normal delivery, he had photosensitivity, learning and walking difficulty since three years of age and was bed-ridden since the age of 12 years. On evaluation, he had tessellated fundus, bilateral immature cataract, sensorineural deafness, cryptorchidism, cortical atrophy with basal ganglion calcification on magnetic resonance imaging brain, multiple joint deformity and contracture on X-ray (Figs 4 and 5) and right lung abscess on contrast-enhanced computed tomography chest (Fig. 6). Clinical findings were consistent with xeroderma pigmentosum-Cockayne syndrome complex (XP-CS) with lung abscess. The patient died two weeks later due to septic shock despite use of antibiotics and other supportive measures. XP-CS is a rare neurodegenerative disorder, which combines clinical features of both XP and CS. Both are autosomal recessive disorders with mutations in various genes which are involved in DNA repair. Clinical features include intellectual disability, neurodegeneration, hearing loss, joint contractures, photosensitivity and lesions caused by ultraviolet light along with various other features. Management includes protection from ultraviolet light, physiotherapy, cochlear implant and other supportive measures.
- Hypo/hyperpigmented lesions over hands.
- Hypo/hyperpigmented lesions over legs with joint contracture and deformity.
- Hypo/hyperpigmented lesions over face and neck.
- X-ray suggestive of left elbow contracture and deformity (arrow).
- X-ray hip showing joint deformity of the right hip (red arrow) and implant in situ left hip (yellow arrow).
- CECT chest suggestive of right lung abscess (arrow).
Conflicts of Interest: None.
