Ichthyosis is a skin disorder characterized by having a dry, thick, scaly skin. Its name is derived from the Greek ichthys meaning fish. The skin is compared to the scaly outer covering of the fish. The scaly appearance of the skin is due to excessive skin keratinization or cornification.
CHILD (i.e. an acronym for Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects) syndrome is a form of ichthyosis is often caused by a mutation of NSDHL gene. The gene is located on chromosome Xq28. NSDHL gene codes for a protein that is associated with cholesterol biosynthesis.
The CHILD syndrome is an autosomal dominant X-linked disorder. The defective gene may be lethal to a male child. The female offspring carrying this gene would exhibit symptoms such as congenital hemidysplasia, ichthyosiform erythroderma, and limb defects. Congenital hemidysplasia refers to the condition wherein one side of the body (often the right side) is underdeveloped. The internal organs may also be poorly developed. Ichthyosiform erythroderma is a condition wherein the newborn has erythroderma (red patches on the skin), which later on is replaced by flaky scales on the affected side of the body. The child may also suffer from limb defects. The fingers and toes may be shortened or missing on the affected side of the body.
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects