Recognizing syndromic hidradenitis suppurativa: a review of the literature

Abstract

Hidradenitis suppurativa (HS) is an inflammatory skin disease causing painful inflammation and suppuration. It may occur in rare syndromes: follicular occlusion, Bazex-Dupré-Christol, Down's, KID, PAPASH, PASS, PASH, and SAPHO syndromes, as well as Dowling-Degos disease. An overview of syndromic HS may inform the search for aetiological factors in HS. PubMed, Ovid and Web of Science were systematically searched using '(hidradenitis OR acne invers*) AND (syndrome OR KID OR PASS OR PAPA OR PASH OR SAPHO OR bazex-dupre OR 'dowling degos' OR triad OR tetrad)' and Cochrane Library using 'hidradenitis OR acne invers*'. A total of 82 articles were included in the final review. We summarize 134 cases collected from the 82 included articles. The syndromes are discussed, focusing on etiopathogenesis, clinical presentation and treatment. This study is based on case reports; therefore, conclusions may be subject to the selection bias. These syndromes are rare; however, it is important to recognize them, as treating them may require a different approach. Three subtypes of syndromic hidradenitis are suggested: syndromes with known genetic abnormalities, syndromes characterized by follicular plugging or structural defects, and syndromes with possible autoinflammatory pathogenesis. There was no universally effective treatment for syndromic HS, and treatment was individualized.

Hidradenitis Suppurativa Associated with Down Syndrome Is Characterized by Early Age at Diagnosis

“…Furthermore, syndromic forms of HS have been described and their clinical behavior appears to be more severe, recalcitrant to treatment, and associated with a poorer quality of life compared to the nonsyndromic form [9]. HS-related syndromes could be classified into three groups based on (1) the specific genetic background (presence of a pathognomonic test), (2) the presence of follicular plugging or structural disorders, and (3) a possible autoinflammatory pathogenesis.…”

“…Although the pathogenesis is complex and not yet clear, genetic susceptibility, mechanical stress, obesity, smoking, and hormonal factors are recognized risk factors associated with the development or worsening of HS [6, 7]. Emerging evidence suggests that HS is associated with other comorbidities [8], while data concerning the coexistence of HS and Down syndrome (DS) are scarce [9-11]. …”

PAPASH , Ps APASH and PASS autoinflammatory syndromes: phenotypic heterogeneity, common biological signature and response to immunosuppressive regimens

“…Dear Editor, Hidradenitis suppurativa (HS) (also known as suppurative hidradenitis) is a chronic inflammatory disease of skin appendages, commonly associating with other conditions including spondyloarthritis, and is a major component of severe cutaneo‐articular autoinflammatory syndromes (AIS), called PAPASH [Pyogenic Arthritis, Pyoderma gangrenosum, Acne, Suppurative Hidradenitis], PsAPASH (PSoriatic Arthritis, Pyoderma gangrenosum, Acne, Suppurative Hidradenitis) and PASS (Pyoderma gangrenosum, Acne, Suppurative hidradenitis and ankylosing Spondylitis) . The clinical phenotypes of these AIS are ill‐defined, and unlike PASH (Pyoderma gangrenosum, Acne, Suppurative Hidradenitis) or PAPA (Pyogenic Arthritis, Pyoderma gangrenosum, Acne) syndromes, still lack any biological or genetic marker.…”

Pilonidal sinus disease: an intergluteal localization of hidradenitis suppurativa/acne inversa: a cross‐sectional study among 2465 patients

“…2 Hidradenitis suppurativa (HS), also known as acne inversa, is a chronic, inflammatory, recurrent, debilitating follicular skin disease that usually presents after puberty with painful, deep-seated, inflamed lesions in the apocrine gland-bearing areas of the body, most commonly the axillary, inguinal and anogenital regions. 3 The pathophysiology of HS is not fully understood but likely includes an interaction between a complex genetic background and environment. As with HS, smoking, obesity and skin friction are risk factors for the development of PSD.…”

“…Hidradenitis suppurativa (HS), also known as acne inversa, is a chronic, inflammatory, recurrent, debilitating follicular skin disease that usually presents after puberty with painful, deep‐seated, inflamed lesions in the apocrine gland‐bearing areas of the body, most commonly the axillary, inguinal and anogenital regions …”