Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India

Abstract

Objective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier. It can be often associated with systemic manifestations. There is a paucity of Indian studies assessing the clinical and demographic profile of children with inherited ichthyosis. Hence, we conducted this study with the primary objective of assessing the clinical and epidemiological profile of children with congenital ichthyosis (CI). Materials and Methods: The study was conducted over 1 year. All children aged up to 18 years of age, with the clinical diagnosis of CI, were evaluated for epidemiological profile and clinical features. Results: A total of 32 children with CI presented with a mean age of 6 ± 4.81 years. The most common phenotype was ichthyosis vulgaris, seen in 13 (40.6%) children, while X-linked recessive ichthyosis was present in 6 (18.75%) children. Epidermolytic ichthyosis (EI) was also seen in 6 (18.75%) children, out of which 5 were diagnosed with generalized EI and 1 was diagnosed with superficial EI. Lamellar ichthyosis was seen in 4 (12.5%) children. Sjogren–Larsson syndrome (SLS), harlequin ichthyosis, and Netherton syndrome were present in 1 (3.1%) case each. Various extracutaneous abnormalities detected were ectropion (9.3%), lagophthalmos (3.1%), and refractive error with stye (3.1%) on ophthalmological evaluation, gross development delay (8.75%), and neurological involvement in the form of spastic quadriplegia (one patient with SLS). Conclusions: CI comprises various skin diseases and can range from mild to very severe presentation with systemic involvement. Identification of the phenotypic expression of ichthyosis is a prerequisite for making prognostic predictions, therapeutic decisions, and offering genetic counseling.

Keywords

• cilino-epidemiology
• congenital ichthyosis
• syndromic ichthyosis