Hidradenitis suppurativa familial

Hidradenitis Suppurativa Familial (HSF) is a chronic skin condition characterized by the occurrence of painful, boil-like lumps under the skin. The lumps typically occur in areas where the skin rubs together, such as the armpits, groin, buttocks, and breasts. HSF is a form of Hidradenitis Suppurativa (HS) that affects multiple members within a family, suggesting a genetic component to its development.

Causes and Genetics

HSF is believed to be caused by a combination of genetic and environmental factors. The exact genetic mutation(s) responsible for HSF is not fully understood, but it is thought to involve genes related to the immune system and skin structure. These genetic factors may increase the susceptibility of hair follicles to blockage and infection, leading to the development of HS lesions.

Symptoms

The symptoms of HSF are similar to those of sporadic HS and include:

• Painful, pea-sized lumps that grow and can break open, releasing a foul-smelling pus.
• Tunnels or tracts that can form under the skin, connecting the lumps.
• Scarring and skin changes after repeated outbreaks.

Diagnosis

Diagnosis of HSF is based on the clinical presentation of the symptoms and a family history of HS. Dermatologists may also perform a physical examination and take a detailed medical history to rule out other conditions.

Treatment

There is no cure for HSF, but treatments are available to manage symptoms. Treatment options include:

• Antibiotics to treat and prevent infections.
• Corticosteroids to reduce inflammation.
• TNF-alpha inhibitors and other biologics for severe cases.
• Laser therapy and surgery to remove affected skin.

Lifestyle changes, such as maintaining a healthy weight and avoiding smoking, can also help manage symptoms.

Prognosis

The prognosis for individuals with HSF varies. While the condition is chronic and can significantly impact quality of life, appropriate management and treatment can help control symptoms and prevent complications.

Epidemiology

HSF is less common than sporadic HS, but the exact prevalence is unknown due to underreporting and misdiagnosis. It affects both men and women, typically starting in adolescence or early adulthood.

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