Abstrait

Congenital icthiosiform erythroderma with vitamin D deficiency rickets in a 12 year old Indian boy.

Goutham AS*, Prasoon Bhatacharjee

An ichthyosis is a heterogeneous group of skin disease characterized by generalized scaling. Congenital Ichthyosiform erythroderma is an autosomal recessive disorder with a mutation in the TGM 1 gene encodes the transglutaminase I protein was found. The scales reflect changes in epidermal differentiation. Congenital ichthyosiform erythroderma is the one of the rarest form of ichthyosis where the infant is usually born with a collodion membrane. Case: The Pediatric department consulted a 12 year old male with a chief complaint of itchy generalized scales on the body since birth. Patient also complained of bowing of lower limbs since 3-4years. According to the parent, at the time of birth, the patient was enveloped by membranes where the eyes could not close tightly. The patient was also unable to breastfeed. Physical examination showed ichthyosiform scales arranged lamellar in a mosaic pattern throughout the body. Histopathological examination results support the diagnosis of congenital ichthyosiform erythroderma. The patient was given with injection vitamin D3 600000IU with calcium supplementation and calcitriol sachets, emollient and supportive therapy. A good improvement shown by markedly improvememt in bowing of limbs, scales and skin stiffness was seen after six weeks of treatment. Conclusion: Congenital ichthyosiform erythroderma is a rare type of ichthyosis. Treatment aims to prevent excessive transepidermal water loss, prevent complications such as rickets, pathological fractures and to reduce clinical symptoms.