CHILD Syndrome

Excerpt

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome, also known as CHILD syndrome, is a rare genetic condition that can affect various parts of the body. Dr. Otto Sachs first described this disease in 1903 when he summarized his examination of an 8-year-old girl with the condition. Other case reports have been published since then. In 1980, Happle et al proposed the acronym "CHILD" for "congenital hemidysplasia, ichthyosiform erythroderma, and limb defects," the main manifestations evident in patients with this condition.

CHILD syndrome is an X-linked, dominant disorder with a male-lethal trait. Most surviving patients are females, though some males may also present with the condition. CHILD syndrome presumably results from mosaicism inactivating the NAD(P)-dependent steroid dehydrogenase-like (NSDHL) protein gene, leading to decreased or absent 3-β-hydroxysteroid dehydrogenase function.

The NSDHL gene encodes 3-β-hydroxysteroid dehydrogenase, which is involved in cholesterol biosynthesis. Cholesterol has many functions in the body, as it is a crucial component of cell membranes. Cholesterol-based hormones include the glucocorticoids, mineralocorticoids, and sex hormones. Cholesterol in myelin is critical to nerve impulse transmission.

CHILD syndrome should be suspected at birth if a unilateral epidermal nevus or dermatosis is found during a newborn's physical examination. Other common features include unilateral limb defects and skin lesions, unilateral ichthyosiform erythroderma, inflammatory variable epidermal nevus, and congenital heart disease. CHILD syndrome is detected in 1 in 100,000 live births.