Woolly hair

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Obesity, Sleep & Internal medicine
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Woolly hair
File:Naxos disease.jpg
Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Curly hair, frizzy hair, brittle hair
Complications
Onset	Birth or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Trichorrhexis nodosa, Monilethrix
Prevention	N/A
Treatment	Supportive care
Medication
Prognosis	N/A
Frequency	Rare
Deaths

Woolly hair is a rare condition characterized by tightly coiled hair that resembles wool. It can occur as an isolated finding or as part of a syndrome. Woolly hair is often inherited and can be associated with other abnormalities, particularly affecting the skin and heart.

Characteristics

Woolly hair is distinguished by its fine, tightly curled texture. The hair shaft is often elliptical in cross-section, which contributes to its unique appearance. Individuals with woolly hair may have hair that is more fragile and prone to breakage.

Genetics

Woolly hair can be inherited in an autosomal dominant or autosomal recessive manner. The genetic basis of woolly hair involves mutations in several genes, including those that encode proteins important for hair shaft formation and structure.

File:Autosomal dominant and recessive.svg

Illustration of autosomal dominant and recessive inheritance patterns.

Autosomal Dominant Inheritance

In autosomal dominant inheritance, a single copy of the mutated gene is sufficient to cause the condition. This means that an affected individual has a 50% chance of passing the trait to their offspring.

Autosomal Recessive Inheritance

In autosomal recessive inheritance, two copies of the mutated gene are necessary for the condition to manifest. Individuals with only one copy of the mutated gene are carriers and do not typically show symptoms.

Associated Conditions

Woolly hair can be a feature of several syndromes, including:

• Naxos disease: A condition characterized by woolly hair, palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy.
• Carvajal syndrome: Similar to Naxos disease, but with left ventricular involvement.

Diagnosis

Diagnosis of woolly hair is primarily clinical, based on the characteristic appearance of the hair. Genetic testing can confirm the diagnosis and identify the specific mutation involved.

Management

There is no specific treatment for woolly hair itself, but management focuses on addressing any associated conditions. Regular monitoring and supportive care are important for individuals with syndromes involving woolly hair.

See also

• Hair follicle
• Genetic disorder
• Cardiomyopathy