Table 2.
Disease | Gene map loci | Dysregulated genes | Encoding protein | Reported cases associated with HS | References | ||
Inflammatory bowel diseases | |||||||
(1) Crohn disease (CD), ulcerative colitis | caspase recruitment | 82 | 47–74 | ||||
16q12 | NoD2/CARD15 | domain-containing | 81 | 48–63 | |||
(2) Crohn disease (CD) and squamous cell carcinoma (SCC) | protein | 1 | 74 | ||||
SAPHO (synovitis, acne, palmoplantar pustulosis, hyperosteosis, osteitis) syndrome | 9 | 75–77 | |||||
Pyoderma gangrenosum | 7 | 78, 79 | |||||
Adamantiades-Behçet disease (ABD) | HLA-B51, IL -12B | promoter of IL-12 | 5 | 80–84 | |||
Spondylarthropathy SPDA1 | |||||||
SPDA2 | HLA-B27 | 59 | 85–95 | ||||
6p21.3 | endoplasmic reticulum aminopeptidase 1 | ||||||
(1) without additional signs | 9q31–q34 | IL-1, IL-23, ERAP1, TNFSF15, HLA negative | tumor necrosis factor superfamily, member 15 | 37 | 86–90 | ||
(2) with acne conglobata only or follicular occlusion triad (HS, acne conglobata, dissecting cellulites of the scalp) | 22 | 86, 91–95 | |||||
Genetic keratin disorders associated with follicular occlusion | 42 | 96–107 | |||||
(1) Pachyonychia congenita (pC-2) | 26 | 96–99 | |||||
(2) Dowling-Degos disease | 17q12-q21 | KRT 17 | cytokeratin-17 | 16 | 100–107 | ||
(a) without additional signs | 12q13 | KRT6B | cytokeratin-6B | 12 | 100–104 | ||
(b) with arthritis | 12q13 | KRT5 | cytokeratin-5 | 2 | 105 | ||
(c) with squamous cell carcinoma (SCC) | 2 | 106, 107 | |||||
Other genetic disorders (1) Keratitis-ichthyosis-deafness (KID) syndrome |
13q11-q12 | GJB2 | GAP junction protein beta-2 = connexin-26 | 4 | 45, 108–110 | ||
(2) Down's syndrome | 1q43, Xp11.23, 21q22.3 | e.g., GATA1 | globolin transcription factor 1 | 3 | 111 | ||
Epithelial tumors* | 38 | 112–118 | |||||
(1) squamous cell carcinoma (SCC)* | 7p11.2 11q13.3 |
ECOP CCND1 |
EGFR (epidermal growth factor receptor)-co-amplified and overexpressed protein | 37 | 112–117 | ||
(2) adenocarcinoma* | cyclin D1 | 1 | 118 |
SCC and adenocarcinoma have to be considered as a consequence of chronic inflammation and not as a real comorbidity