Sabinas brittle hair syndrome

Sabinas Brittle Hair Syndrome

Sabinas Brittle Hair Syndrome (pronunciation: sa-bee-nas brit-l hair sin-drome), also known as Monilethrix, is a rare genetic disorder characterized by the growth of brittle hair that breaks easily.

Etymology

The term "Sabinas" originates from the region in Mexico where the condition was first identified. "Brittle Hair Syndrome" describes the primary symptom of the condition, which is fragile, easily breakable hair.

Definition

Sabinas Brittle Hair Syndrome is a type of Hair Shaft Disorder, which refers to abnormalities in the structure or function of the hair shaft. This condition is caused by mutations in the Desmoglein 4 gene and is inherited in an Autosomal Recessive manner.

Symptoms

The primary symptom of Sabinas Brittle Hair Syndrome is hair that is brittle and breaks easily. Other symptoms may include Alopecia (hair loss), Keratosis Pilaris (small, rough patches on the skin), and Nail Dystrophy (abnormal nail growth).

Diagnosis

Diagnosis of Sabinas Brittle Hair Syndrome is typically made through a combination of clinical examination and Genetic Testing. A Microscopic Examination of the hair may reveal characteristic abnormalities.

Treatment

There is currently no cure for Sabinas Brittle Hair Syndrome. Treatment is focused on managing symptoms and may include the use of special hair care products and avoidance of hair-damaging activities.

Related Terms

External links

Medical encyclopedia article on Sabinas brittle hair syndrome
Wikipedia's article - Sabinas brittle hair syndrome

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Sabinas brittle hair syndrome