Familial hidradenitis suppurativaGene: GJB2
Amber as definite HS-like features have been reported although the clinical total features are different (follicular occlusion for GJB2).
Created: 20 Jun 2017, 8:21 a.m.
2 reports of keratitis-ichthyosis-deafness (KID) syndrome occurring with follicular occlusion triad (which includes hidradenitis suppurativa): PMID:16172043 and PMID:15337980. PMID:16172043 report the case of a 31-year-old black male with KID syndrome and a heterozygous missense variant D50N in the GJB2 gene. In addition to the classical features of vascularizing keratitis, erythrokeratoderma and congenital deafness, the patient presented a follicular occlusion triad with HS, acne conglobata and dissecting cellulitis of the scalp (full paper not accessible). PMID:15337980 report a male with KID syndrome and a heterozygous c.119C>T variant (p.A40V) in GJB2. The patient also had inflammatory dissecting folliculitis of the scalp, HS, and cystic acne.
Created: 6 Jul 2017, 2:56 p.m.
Comment on list classification: Updated rating from Red to Amber following expert review from disease nominator, Prof. John McGrath. Follicular occlusion triad phenotype (which includes hidradenitis suppurativa) seen in at least 2 cases with GJB2 mutations.
Created: 20 Jun 2017, 9:37 a.m.
6th July 2017: Revised panel and promoted to Version 1.0 based on expert review. Although PSENEN, NCSTN and PSEN1 (all green genes on this panel) collectively only account for approximately 7% of all hidradenitis suppurativa (HS), there is insufficient evidence to promote any further genes to green at this time.
This gene has been classified as Amber List (Moderate Evidence).
GJB2 was created by rfoulger
GJB2 was added to Familial hidradenitis suppurativapanel. Sources: Literature