Acne Syndromes and Mosaicism

Abstract

Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic mosaicism. Acne is a chronic illness characterized by inflammatory changes around and in the pilosebaceous units, commonly due to hormone- and inflammatory signaling-mediated factors. Several systemic disorders, such as congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome have classically been associated with acne. Autoinflammatory syndromes, including PAPA, PASH, PAPASH, PsAPASH, PsaPSASH, PASS, and SAPHO syndromes include acneiform lesions as a key manifestation. Mosaic germline mutations in the FGFR2 gene have been associated with Apert syndrome and nevus comedonicus, two illnesses that are accompanied by acneiform lesions. In this review, we summarize the concept of cutaneous mosaicism and elaborate on acne syndromes, as well as acneiform mosaicism.

Mikrokomedonen und differenzierte Therapie bei Akne

“…syndromaler Akne festgestellt. 12 Wie die Haarfollikel unterliegen auch die Talgdrüsen einem Zyklus, und die unsichtbaren Mikrokomedonen können spontan verschwinden, wenn sie nicht durch Akne-auslösende Faktoren stimuliert werden. 2 Erhöhte Talgproduktion, die in der Regel hormonell bedingt ist, begünstigt wahrscheinlich die dysbiotische Besiedlung des Haarfollikels durch Propionibacterium (P.) acnes, was zu einer durch entzündungsfördernde Lipidfraktionen im Talg noch verstärkten Entzündung führt.…”

“…Unsichtbare Mikrokomedonen stehen im Zusammenhang mit duktaler Hyperproliferation. Ähnliche Vorgänge wurden bei chemisch induzierter 11 und syndromaler Akne festgestellt 12 . Wie die Haarfollikel unterliegen auch die Talgdrüsen einem Zyklus, und die unsichtbaren Mikrokomedonen können spontan verschwinden, wenn sie nicht durch Akne‐auslösende Faktoren stimuliert werden 2 …”

Adult Female Acne: Recent Advances in Pathophysiology and Therapeutic Approaches

“…Similar findings are reported in the review by Heng et al on genetic variability in acne vulgaris [66]. Somatic mutations and segmental or nonsegmental somatic mosaicism have been involved in a variety of acne-related genetic syndromes such as the Apert syndrome (acrocephalosyndactyly) and nevus comedonicus, associated with FGFR2 (fibroblast growth factor receptor 2) mutations, and the autoinflammatory syndromes PAPA (pyogenic arthritis, pyoderma gangrenosum, acne), PASH (pyoderma gangrenosum, acne, suppurative hidradenitis), PAPASH (pyogenic arthritis, pyoderma gangrenosum, acne, suppurative hidradenitis), PsAPASH (pustular psoriasis, arthritis, pyoderma gangrenosum, synovitis, acne, suppurative hidradenitis), PASS (pyoderma gangrenosum, acne, suppurative hidradenitis, ankylosing spondylitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis), with most mutations associated with the IL-1β pathway and matrix metalloproteinases such as MMP 2 and 9 [67]. Somatic mutations and segmental or nonsegmental somatic mosaicism have been involved in a variety of acne-related genetic syndromes such as the Apert syndrome (acrocephalosyndactyly) and nevus comedonicus, associated with FGFR2 (fibroblast growth factor receptor 2) mutations, and the autoinflammatory syndromes PAPA (pyogenic arthritis, pyoderma gangrenosum, acne), PASH (pyoderma gangrenosum, acne, suppurative hidradenitis), PAPASH (pyogenic arthritis, pyoderma gangrenosum, acne, suppurative hidradenitis), PsAPASH (pustular psoriasis, arthritis, pyoderma gangrenosum, synovitis, acne, suppurative hidradenitis), PASS (pyoderma gangrenosum, acne, suppurative hidradenitis, ankylosing spondylitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis), with most mutations associated with the IL-1β pathway and matrix metalloproteinases such as MMP 2 and 9 [67].…”