Skin inflammation and pigmentation share a genetic link

A small genetic variant can carry significant consequences. Research published in the Journal of Investigative Dermatology has identified a mechanistic link between Hidradenitis Suppurativa — a chronic inflammatory skin disease — and disorders of skin pigmentation, pointing toward shared biological pathways that researchers say have been underexplored.

Hidradenitis Suppurativa, known as HS, causes recurring inflammation at hair follicles sensitive to androgen hormones. According to the study, when lesions resolve, they frequently leave behind scarring that includes visible changes in pigmentation — darker or lighter patches where the skin has been affected.

The genetic evidence is specific. Researchers reported that rare loss-of-function variants in a gene called PSENEN — first identified in connection with HS — were later found to also cause Dowling-Degos disease, a hereditary pigmentation disorder. The study cited work by Petukhova et al. (2025) as establishing this dual association, suggesting the same genetic disruption can produce both inflammatory and pigmentary effects depending on context.

For the broader pigmentation research community, that overlap matters. Conditions affecting melanocytes — the cells responsible for pigment production — have historically been studied in relative isolation from inflammatory skin diseases. This finding, the journal reported, supports a more integrated view: that inflammation and pigmentation are not separate systems but ones that can share molecular causes.

The study examined the behaviour of epidermal melanocytes specifically within HS-affected tissue, looking at how these cells are activated during the disease process. The findings add to a growing body of research suggesting that melanocyte activity is not passive in inflammatory skin conditions but may be directly shaped by — and possibly contribute to — the disease environment around it.

For people living with pigmentation differences, including those with albinism, research of this kind builds foundational understanding of how melanocyte biology intersects with broader skin health. The mechanisms identified here do not directly address albinism, but they illuminate how melanocyte function can be altered by genetic variants and inflammatory processes — territory that overlaps with questions the albinism research community continues to investigate.