Marie–Unna congenital hypotrichosis

Marie–Unna congenital hypotrichosis (MUHH) is a rare genetic disorder characterized by an abnormal growth of hair on the scalp and body. First described by Marie Unna in 1925, this condition has since been identified as having a distinct genetic basis, leading to its classification as a form of congenital hypotrichosis. Individuals with MUHH typically present with sparse, coarse, and wiry hair from birth, which may lead to complete baldness in some cases. The disorder is inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Genetics

MUHH is caused by mutations in the UBR1 gene, which plays a crucial role in the development and maintenance of hair follicles. The UBR1 gene is part of a pathway that regulates the degradation of proteins within the cell, a process essential for normal hair follicle development and function. Mutations in this gene disrupt the normal cycle of hair growth, leading to the symptoms observed in MUHH.

Symptoms

The primary symptom of MUHH is the abnormal development of hair, which is apparent from birth. Affected individuals may have sparse scalp hair that is often described as coarse, wiry, and unmanageable. In some cases, eyebrows, eyelashes, and body hair may also be sparse or absent. The severity of hair loss can vary significantly among individuals with MUHH, and in some cases, it may progress to complete baldness.

Diagnosis

Diagnosis of MUHH is primarily based on clinical observation of the hair phenotype, family history, and genetic testing. Genetic testing can confirm a diagnosis by identifying mutations in the UBR1 gene. This testing is crucial for distinguishing MUHH from other forms of congenital hypotrichosis and related hair disorders.

Treatment

There is currently no cure for MUHH, and treatment focuses on managing symptoms. Options may include the use of wigs or hairpieces to cover hair loss and counseling to address any psychological impact of the disorder. Advances in gene therapy and regenerative medicine may offer new treatment possibilities in the future.

Epidemiology

MUHH is a rare disorder, though the exact prevalence is unknown. It has been reported in families worldwide, indicating that it affects individuals of all ethnic backgrounds.

See also

• Genetic disorder
• Hair
• Congenital hypotrichosis

Marie–Unna congenital hypotrichosis Resources
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