Wooly hair syndrome

Woolly Hair Syndrome is a rare genetic disorder characterized by the growth of tightly coiled, hair that is unusually sparse and light in color. The condition is usually present at birth and can be associated with other abnormalities.

Characteristics

The primary characteristic of Woolly Hair Syndrome is the presence of tightly coiled hair that is lighter in color and less dense than normal. The hair is often fragile and breaks easily, leading to hair loss. The condition is usually present at birth and can be associated with other abnormalities such as cardiomyopathy, palmoplantar keratoderma, and nail abnormalities.

Causes

Woolly Hair Syndrome is a genetic disorder caused by mutations in the genes that regulate hair growth and structure. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Diagnosis

Diagnosis of Woolly Hair Syndrome is typically based on the physical characteristics of the hair. A biopsy of the scalp may be performed to examine the hair under a microscope. Genetic testing can also be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Woolly Hair Syndrome. Treatment is focused on managing the symptoms and may include the use of moisturizing shampoos and conditioners to improve the texture of the hair. In some cases, individuals with Woolly Hair Syndrome may choose to wear wigs or hairpieces.

See also

• Hair disorders
• Genetic disorders
• Autosomal recessive inheritance

NIH genetic and rare disease info

• NIH info on Wooly hair syndrome

Wooly hair syndrome is a rare disease.

Wooly hair syndrome Resources
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