SNP Shot: Genomic Insights

Hidradenitis suppurativa (HS), sometimes called acne inversa, is a long-lasting skin condition. It's marked by recurring, boil-like bumps or nodules that develop beneath the skin's surface. These nodules become swollen, tender, and often burst, leading to abscesses that release fluid and pus. The healing process of these abscesses results in considerable skin scarring.

The symptoms of HS usually emerge after puberty, commonly during the teenage years or twenties, although it can start earlier, especially in females. These nodules typically occur in areas like the armpits and groin. They can also appear around the anus, on the buttocks, or under the breasts. Occasionally, they might arise in other areas such as the back of the neck, waist, and the inner thighs.

The repeated nodules and abscesses cause ongoing pain. These issues can also lead to feelings of low self-esteem, loneliness, and sadness. In rare situations, prolonged abscesses located on the buttocks may potentially develop into squamous cell carcinoma, a form of skin cancer.

Inheritance:

HS can be hereditary, with studies showing that 30-40% of those affected have a family history of the condition. However, this percentage might be higher because some individuals don't disclose their condition to family, or HS is sometimes mistaken for other skin ailments. In certain families, particularly those with a gene variant in NCSTN, PSEN1, or PSENEN, HS seems to follow an autosomal dominant inheritance pattern. This means only one copy of a changed gene in each cell is enough to cause the condition. Often, a person with HS inherits this altered gene from a parent who also has the condition.