Familial hidradenitis suppurativaGene: FGFR2
Amber as definite HS-like features have been reported although the clinical total features are different (comedonal acne for FGFR2).
Created: 20 Jun 2017, 8:21 a.m.
Comment on list classification: Updated rating from Red to Amber following review from expert and disease nominator Prof. John McGrath. Hidradenitis suppurativa phenotype reported for patient with FGFR2 mutation, but alongside nevus comedones.
Created: 20 Jun 2017, 9:35 a.m.
PMID:28293556 report hidradenitis and nevus comedonicus in a male patient. A rare, heterozygous, missense mutation in the FGFR2 gene was found (c.G492C, p.K164N). Other family members had similar conditions but samples could not be taken from the family.
Created: 19 Jun 2017, 10:18 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).
FGFR2 was created by rfoulger
FGFR2 was added to Familial hidradenitis suppurativapanel. Sources: Literature