Woolly hair, congenital

Woolly Hair, Congenital is a rare condition characterized by the abnormal texture and growth pattern of scalp hair. This condition is present from birth and is distinguished by tightly coiled hair that is significantly different from the other family members' hair texture. Woolly hair can occur as an isolated trait or as part of a syndrome involving other organ systems.

Characteristics

Woolly hair presents as fine, tightly coiled, and often lighter in color compared to the normal hair of individuals of the same ethnicity. The hair is usually dry and brittle, leading to breakage and the appearance of short hair. In some cases, individuals with congenital woolly hair may also experience reduced hair density.

Causes

The condition is primarily genetic, with several genes implicated in its manifestation. It can be inherited in an autosomal dominant or autosomal recessive pattern. Mutations in genes such as KRT71, KRT74, and KRT81 have been associated with different forms of congenital woolly hair. These genes are involved in the structure and function of keratin, a protein that is a key component of hair, nails, and skin.

Associated Conditions

In some instances, congenital woolly hair occurs as part of a syndrome, indicating the involvement of other bodily systems. Notable syndromes include:

• Naxos Disease: Characterized by woolly hair, cardiomyopathy (a disease of the heart muscle), and palmoplantar keratoderma (thickened skin on the palms and soles).
• Carvajal Syndrome: Similar to Naxos Disease but with the addition of epidermolytic hyperkeratosis, a skin disorder.

Diagnosis

Diagnosis of congenital woolly hair is primarily clinical, based on the appearance and texture of the hair. Family history and genetic testing can aid in confirming the diagnosis, especially in syndromic cases.

Treatment

There is no cure for congenital woolly hair, and treatment focuses on managing the condition. This may include the use of specialized hair care products to minimize breakage and maintain hair health. In cases where woolly hair is part of a syndrome, treatment also involves managing the associated conditions.

Prognosis

The prognosis for individuals with isolated congenital woolly hair is generally good, with the main concerns being cosmetic. However, for those with syndromic forms of woolly hair, the prognosis depends on the severity of the associated conditions, particularly the cardiac involvement.

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