Marie Unna hereditary hypotrichosis

Marie Unna hereditary hypotrichosis
Autosomal dominant - en.svg
Synonyms	Unna congenital hypotrichosis
Pronounce	N/A
Specialty	N/A
Symptoms	Sparse scalp hair, coarse hair texture
Complications	N/A
Onset	Birth or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the U2HR gene
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Marie Unna hereditary hypotrichosis (MUHH) is a rare genetic disorder characterized by abnormal hair growth. It is named after the German dermatologist Marie Unna, who first described the condition in the early 20th century. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Individuals with Marie Unna hereditary hypotrichosis typically present with sparse scalp hair at birth or in early childhood. The hair that does grow is often coarse, wiry, and may be described as "woolly." Over time, affected individuals may experience progressive hair loss, leading to areas of complete baldness. In some cases, eyebrows, eyelashes, and body hair may also be affected.

Genetic Basis

Marie Unna hereditary hypotrichosis is caused by mutations in the U2HR gene, which plays a role in hair follicle development. The U2HR gene is located on chromosome 8, and mutations in this gene disrupt the normal cycle of hair growth, leading to the characteristic features of the disorder.

Diagnosis

Diagnosis of MUHH is primarily based on clinical evaluation and family history. Genetic testing can confirm the diagnosis by identifying mutations in the U2HR gene. Dermatologists may also perform a scalp biopsy to examine the hair follicles under a microscope.

Management

There is currently no cure for Marie Unna hereditary hypotrichosis. Management focuses on symptomatic treatment and cosmetic solutions. Options may include the use of wigs or hairpieces, as well as counseling and support for affected individuals and their families.

Epidemiology

Marie Unna hereditary hypotrichosis is a rare condition, with only a few hundred cases reported worldwide. It affects both males and females equally and has been identified in various ethnic groups.

Also see

• Hypotrichosis
• Alopecia
• Genetic disorders
• Dermatology