MedGen

Acne inversa, also known as hidradenitis suppurativa, is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690. [from OMIM]

Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (603149), IL17F (606496), IL17A/F, and IL17E (IL25; 605658) (summary by Levy et al., 2016). [from OMIM]

Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see 179850) (Zhou et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see 142690. [from OMIM]

Immunodeficiency-107 with susceptibility to invasive Staphylococcus aureus infection (IMD107) is an autosomal dominant immunologic disorder characterized most often by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs. There is incomplete penetrance (about 30%) and variable expressivity. In some patients with heterozygous OTULIN mutations, an infectious agent is not identified, suggesting that low-grade infectious or even noninfectious triggers may play a role in development of the disease. The levels and function of immune cells appear normal; the molecular defect resides in fibroblasts and possibly other nonhematopoietic barrier cells that show increased susceptibility to the detrimental effects of the S. aureus alpha-toxin (Spaan et al., 2022). [from OMIM]

A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. [from HPO]