Document Detail

Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad.
MedLine Citation:
PMID:  16172043     Owner:  NLM     Status:  MEDLINE    
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.
Laura Maintz; Regina C Betz; Jean-Pierre Allam; Jörg Wenzel; Axel Jaksche; Nicolaus Friedrichs; Thomas Bieber; Natalija Novak
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of dermatology : EJD     Volume:  15     ISSN:  1167-1122     ISO Abbreviation:  Eur J Dermatol     Publication Date:    2005 Sep-Oct
Date Detail:
Created Date:  2005-09-20     Completed Date:  2006-01-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9206420     Medline TA:  Eur J Dermatol     Country:  France    
Other Details:
Languages:  eng     Pagination:  347-52     Citation Subset:  IM    
Department of Dermatology, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany.
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MeSH Terms
Acne Vulgaris / pathology*
Cellulitis / pathology*
Connexins / genetics
Deafness* / genetics
Hidradenitis Suppurativa / pathology*
Ichthyosis / genetics,  pathology*
Keratitis* / genetics
Keratoderma, Palmoplantar / genetics,  pathology
Mutation, Missense
Scalp Dermatoses / pathology*
Reg. No./Substance:
0/Connexins; 127120-53-0/connexin 26

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