congenital ichthyosis

Introduction

Represents a group of disorders with a wide spectrum of clinical presentations ranging from Harlequin ichthyosis to lamellar ichthyosis & nonbullous congenital ichthyosiform erythroderma

Pathology

• keratinization with non inflammatory dryness & scaling of skin

Genetics

• associated with defects in ichthyin gene (autosomal recessive)

Clinical manifestations

• non-bullous congenital ichthyosiform erythroderma
• fine whitish scaling on an erythrodermal background
• larger brownish scales are present on the buttocks, neck & legs
• some of the families may show a more lamellar ichthyosis phenotype

More general terms

• ichthyosis; erythrokeratodermia variabilis

More specific terms

• ichthyosis autosomal recessive with hypotrichosis
• lamellar ichthyosis

Database

• OMIM: https://mirror.omim.org/entry/609383