A RARE CASE OF SYNDROMIC ICHTHYOSIS : SJOGREN LARSSON SYNDROME : A CASE REPORT

Abstract

A 15-year-old male patient presented with skin lesions associated with scaling over bilateral upper limbs, bilateral lower limbs, trunk since birth associated with severe itching. He had difculty in walking and standing since the past 1 year and 6 months respectively. He was diagnosed as Global Developmental Delay with Intellectual Disability with history of seizure disorder in the past. There was diffuse skin thickening with prominent skin markings with excoriation marks over bilateral upper and lower limbs, and trunk. Biopsy revealed marked hyperkeratosis and papillomatous hyperplasia. Other signicant ndings included microcephaly, small arched eyebrows, at nasal bridge, long philtrum, coarse facies, macroglossia, arachnodactyly, exaggerated deep tendon reexes with extensor plantar reex and speech difculty. Differential diagnosis includes Sjogren Larsson Syndrome ,Trichothiodystrophy and Netherton Syndrome. Raised ALP, raised CPK, MRI of brain showing leukodystrophy, X ray both knees AP and lateral suggestive of osteopenia, IQ <30% were other signicant investigation ndings. Syndromic ichthyoses have phenotypes due to underlying genetic defects are seen not only in skin but also in other organs.[2] Congenital ichthyosis, spastic paralysis of the limbs(marked in the lower limbs, symmetrical) and mental weakness are three main signs of the Sjogren Larsson syndrome which were seen in our patient.[4] Gait disorder, history of convulsions, skin biopsy, MRI brain nds were concurrent with Sjogren Larsson syndrome. Speech difculty , severe pruritis contribute towards our clinical diagnosis. Counselling of parents is of utmost importance.