Abstract 60: Rickets in congenital bullous ichthyosiform erythroderma

Abstract

Introduction: Congenital ichthyosiform erythroderma (CIE), also known as bullous congenitalichthyosiform erythroderma is a rare type of the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births. CIE comes under the umbrella term autosomal recessive congenital ichthyosis (ARCI), which include non-syndromic congenital ichthyosis such as harlequinichthyosis and lamellar ichthyosis. Ichthyosiform erythroderma due to keratinizing disordersmaysuppress cutaneous vitamin D synthesis, leading to vitamin D deficiency and rickets.Description: A 8 year 10 months old female child presented with poor height gain from 5 years and inward bending of knees from 5 years. h/o hyperpigmented hyperkeratotic scaly dry skinfrombirth. She was diagnosed with Bullous ichythosiform erythroderma and was prescribed emollients by a dermatologist. She is born out of non-consangienous marriage, second in birth order has an elder and youngersibling who are apparently normal. Ichythyosis present from birth more during winter season. h/o delayed dentition present. No h/o constipation or weight gain. h/o delayed motor milestones present. Language and social skills normal. o/e height is 78 cms @ < -10.8 SDS; height age <2 years weight 10 kg @ < - 6 SDS ; weight age < 2 years inward bending of knees + ; forward bending of tibia + ; ichthyosis over lower limbs, abdomen and upper limb. Her labs showed low Vit D levels of 8.7 ng/ml; calcium of 7.5 mg/dl (8- 10 mg/dl); phosphorus 2.6 mg/ml (2.5-4.8 mg/dl); elevated serum Alkaline phosphatase of 1450 IU/L; serum PTH of 181 pg/ml; normal thyroid and renal profile. She was started on oral vitamin D3 supplements and calcium supplements.Discussion: Ichthyosiform erythroderma is of two types, one inherited as an autosomal dominant and the other as an autosomal recessive trait. The recessive form is nonbullous and is associated with growth retardation, oligophrenia, spastic paralysis, genital hypoplasia, hypotrichia and shortened life expectancy. In the autosomal dominant or bullous form, however, life expectancy is not shortened, and the associated symptoms include only seborrhoea of the head an probably polydipsia. Both types begin at birth and are localized mostly on the flexor surfaces. Nonbullous congenital ichthyosiform erythroderma is characterized by prominent erythroderma and fine white, superficial semiadherent scales. The majority of affected individuals are present at birth as collodion babies. Skin histology shows hyperkeratosis, an increase in stratum corneum thickness, a normal or prominent granular layer and increased mitoses. Development of skeletal features in this condition can be explained by the fact that the maintenance of healthy skeleton requires vitamin D, the main source of which is biosynthesis in the skin. Epidermal hyperproliferation disturbs this synthesis and results in rickets.