CHILD syndrome ichthyosis
CHILD syndrome is a rare genetic disorder that primarily affects the skin and skeletal system. The name is an acronym for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects. It is characterized by large patches of skin that are red and inflamed (erythroderma) and covered with scale-like features (ichthyosis), and by limb underdevelopment or absence.
Etiology[edit | edit source]
CHILD syndrome is caused by mutations in the NSDHL gene. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Mutations in the NSDHL gene disrupt the production of cholesterol, leading to an accumulation of potentially toxic compounds in the body.
Symptoms[edit | edit source]
The symptoms of CHILD syndrome can vary greatly from one person to another. The most common symptoms include:
- Ichthyosis: This is a condition that causes the skin to become dry, thick, and scaly. In CHILD syndrome, ichthyosis typically affects one side of the body and is often present at birth.
- Limb defects: These can range from minor underdevelopment of certain bones to the complete absence of a limb. Like ichthyosis, limb defects in CHILD syndrome typically affect one side of the body.
- Other symptoms: These can include abnormalities of the eyes, teeth, and nails, as well as developmental delay and intellectual disability in some cases.
Diagnosis[edit | edit source]
Diagnosis of CHILD syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the NSDHL gene.
Treatment[edit | edit source]
There is currently no cure for CHILD syndrome. Treatment is aimed at managing symptoms and can include skin care to manage ichthyosis, physical therapy to improve mobility in affected limbs, and surgery to correct skeletal abnormalities.
Epidemiology[edit | edit source]
CHILD syndrome is extremely rare, with fewer than 100 cases reported in the medical literature. It affects females more often than males, and it can occur in people of any ethnic background.
See also[edit | edit source]
| CHILD syndrome ichthyosis Resources | |
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