Hypertrichosis lanuginosa congenita

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Hypertrichosis Lanuginosa Congenita

Hypertrichosis lanuginosa congenita is a rare genetic condition characterized by excessive hair growth over the entire body. This condition is present at birth and is distinguished by the presence of fine, soft, lanugo-type hair that covers the skin. Unlike typical lanugo hair, which is usually shed before or shortly after birth, the hair in hypertrichosis lanuginosa congenita persists throughout life.

Clinical Presentation[edit | edit source]

Individuals with hypertrichosis lanuginosa congenita exhibit a generalized overgrowth of lanugo hair. This hair is typically fine, soft, and non-pigmented, resembling the hair that covers a fetus in utero. The hair growth is not limited to any specific area and can cover the face, trunk, and limbs. The condition does not usually affect the palms, soles, or mucous membranes.

Genetics[edit | edit source]

Hypertrichosis lanuginosa congenita is often inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. However, cases of autosomal recessive inheritance have also been reported. The specific genetic mutations responsible for this condition are not fully understood, but they are believed to involve genes that regulate hair growth and development.

Diagnosis[edit | edit source]

The diagnosis of hypertrichosis lanuginosa congenita is primarily clinical, based on the characteristic appearance of the hair and its distribution. Genetic testing may be used to confirm the diagnosis and to distinguish it from other forms of hypertrichosis or related conditions.

Differential Diagnosis[edit | edit source]

Hypertrichosis lanuginosa congenita should be differentiated from other forms of hypertrichosis, such as:

Management[edit | edit source]

There is no cure for hypertrichosis lanuginosa congenita, and treatment is primarily focused on managing the cosmetic aspects of the condition. Options may include:

Prognosis[edit | edit source]

The prognosis for individuals with hypertrichosis lanuginosa congenita is generally good, as the condition does not affect overall health or life expectancy. However, the psychological and social impact of the condition can be significant, and individuals may benefit from psychological support and counseling.

Also see[edit | edit source]


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Contributors: Prab R. Tumpati, MD