Haber syndrome

Haber syndrome is a rare genetic disorder characterized by a combination of skin abnormalities, including rosacea, keratosis pilaris, and acanthosis nigricans. The syndrome is named after the dermatologist who first described it.

Presentation

Individuals with Haber syndrome typically present with a variety of skin manifestations. These include:

• Rosacea: A chronic skin condition that causes redness and visible blood vessels in the face. It may also produce small, red, pus-filled bumps.
• Keratosis pilaris: A common, harmless skin condition that causes dry, rough patches and tiny bumps, often on the upper arms, thighs, cheeks, or buttocks.
• Acanthosis nigricans: A condition characterized by dark, velvety patches in body folds and creases, often seen in the armpits, groin, and neck.

Genetics

Haber syndrome is believed to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, the specific gene or genes involved have not been definitively identified.

Diagnosis

The diagnosis of Haber syndrome is primarily clinical, based on the characteristic skin findings. A dermatologist may perform a skin biopsy to help confirm the diagnosis and rule out other conditions.

Management

There is no cure for Haber syndrome, and treatment is symptomatic. Management strategies may include:

• Topical treatments: Such as retinoids or keratolytic agents to manage keratosis pilaris.
• Laser therapy: To reduce the appearance of rosacea.
• Moisturizers and emollients: To alleviate dry skin.

Prognosis

The prognosis for individuals with Haber syndrome varies. The skin manifestations can be chronic and may require ongoing management, but they are not life-threatening.

Related Pages

• Rosacea
• Keratosis pilaris
• Acanthosis nigricans
• Genetic disorder
• Dermatology