title: Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad.
abstract: Keratitis-Ichthyosis-Deafness syndrome is a rare congenital disorder of the ectoderm caused by mutations in the connexin-26 gene (GJB2) on chromosome 13q11-q12, giving rise to keratitis, erythrokeratoderma and neurosensory deafness. We report the case of a 31-year-old black male diagnosed as having KID syndrome. Sequencing analysis showed a heterozygous missense mutation D50N (148G > A) in the GJB2 gene. In addition to the classical features of vascularizing keratitis, erythrokeratoderma and congenital deafness, our patient presented a follicular occlusion triad with hidradenitis suppurativa (HS, alias acne inversa), acne conglobata and dissecting cellulitis of the scalp, leading to cicatricial alopecia and disfiguring, inflammatory vegetations of his scalp. Conservative therapy such as a keratolytic, rehydrating and antiseptic external therapy, antibiotic, antimycotic and retinoids were only of moderate benefit, so we finally chose the curative possibility of surgery therapy of the axillar papillomas and of the scalp. The inflammatory papillomatous regions of the axillae and of the scalp were radically debrided. Clean granulation was awaited and covered in a second session with a mesh graft from the thigh, achieving a satisfactory result. To our knowledge, only one case of KID syndrome occurring in association with follicular occlusion triad has been reported before.
authors.affiliation: Department of Dermatology, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany.
authors.forename: Laura
authors.initials: L
authors.lastname: Maintz
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Allam
authors.forename: Jörg
authors.initials: J
authors.lastname: Wenzel
authors.forename: Axel
authors.initials: A
authors.lastname: Jaksche
authors.forename: Nicolaus
authors.initials: N
authors.lastname: Friedrichs
authors.forename: Thomas
authors.initials: T
authors.lastname: Bieber
authors.forename: Natalija
authors.initials: N
authors.lastname: Novak
mesh_terms: D000152:Acne Vulgaris / Q000473:pathology*; D000328:Adult; D002481:Cellulitis / Q000473:pathology*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000235:genetics; D006579:Heterozygote; D017497:Hidradenitis Suppurativa / Q000473:pathology*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000473:pathology*; D007634:Keratitis / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D012536:Scalp Dermatoses / Q000473:pathology*; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26