A 3½-year-old male child presented with history of developmental delay. On examination he was short statured (height 78 cm) and had microcephaly (head circumference 43 cm). There was an erythematous malar rash (photosensitive), prominent but low set ears, prognathism, maloccluded and carious teeth (Fig. 1). He was also mentally retarded. Ophthalmoscopic examination revealed bilateral optic atrophy with pigmentary retinal degeneration. Systemic examination was within normal limits. Based on these features a diagnosis of Cockaney’s syndrome was made.

Fig. 1. Erythematous malar rash, maloccluded teeth and low set ear in Cockayne syndrome.

Cockayne syndrome is a rare, autosomal recessively inherited disorder. The patient’s present with photosensitive erythematous malar rash, sunken eyes and progeric appearance (due to subcutenous lipoatrophy). The typical facial appearance includes pinched narrow face and beaked nose. They have large hands and feet, prominent ears, prognathism and carious teeth. Other important features include mental retardation, microcephaly, growth failure, optic atrophy, pigmented retinal degeneration, ataxia and sensorineural deafness. X-ray shows thickened calvarium, sclerotic epiphyses of fingers and osteoporosis. This syndrome need to be differentiated from Blooms syndrome, Rothmund-Thomson syndrome, progeria and xeroderma pigmentosum. Death by the second or third decade occurs as a result of progressive neurological degeneration.

Pankaj Harkut,
Atul Salodkar,*
Departments of Medicine and Dermatology*,
Government Medical College,
Nagpur, India.