Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
L HomeidaM Fatahzadeh

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is a rare form of ectodermal dysplasia with significant visual and auditory impairment. Pathogenesis involves a mutation in the GJB2 gene, which encodes connexin-26, a protein in the epithelial gap junctions thought to be involved in the differentiation of ectodermally derived tissues. Affected patients are also at increased risk for the epithelial malignancies. To our knowledge, nearly 100 cases of KID syndrome, including 19 with squamous cell carcinoma (SCC) complications, have been reported worldwide. We report here a patient with KID syndrome who developed an ulcerative oral lesion causing him significant discomfort; he was subsequently diagnosed with oral SCC. We review the clinical presentation and symptomatology, including those affecting the oral cavity for this syndrome and highlight the importance of multidisciplinary collaboration and life-long screening aimed at prevention of the evolving complications.

References

May 15, 1997·The Journal of Clinical Investigation·J Hu, I A Cotgreave
May 25, 1999·Pediatric Dermatology·L RestanoG Tadini
Apr 25, 2000·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·J C SáezF Palisson
Mar 13, 2002·The Laryngoscope·Yvonne M Szymko-BennettAndrew J Griffith
Mar 26, 2002·American Journal of Human Genetics·Gabriele RichardLaura Russell
Jan 1, 2004·American Journal of Ophthalmology·Shozo SonodaTaiji Sakamoto
Feb 5, 2005·Ophthalmology·E M MessmerA Kampik
Mar 3, 2007·American Journal of Medical Genetics. Part a·Gurston G NyquistGabriele Richard
Mar 27, 2007·The British Journal of Dermatology·J Mazereeuw-HautierA Hovnanian
Apr 20, 2007·International Journal of Dermatology·Luciana A ConradoNeusa L Dillon
Nov 22, 2008·Cochlear Implants International·Elizabeth J Barker, Robert Js Briggs
Jun 24, 2010·Journal of Dermatological Science·Taku FujimuraAlexander H Enk
Aug 17, 2011·Archives of Dermatology·Siegfried WerchauPeter Helmbold
Jun 26, 2012·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Mir Nowazesh AliChikara Saito
Feb 7, 2013·Journal of the American Academy of Dermatology·Kathleen CoggshallKanade Shinkai
Feb 8, 2013·Acta Dermato-venereologica·Hiroshi MayamaSetsuya Aiba
Oct 24, 2013·Case Reports in Dentistry·Sera Sımsek DereliogluSultan Keles

❮ Previous
Next ❯

Citations

Jul 28, 2015·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Noah A Levit, Thomas W White
Jan 21, 2021·Biology·Laura Garcia-VegaPatricia E Martin

❮ Previous
Next ❯

Related Concepts

Related Feeds

Carcinoma, Squamous Cell

Basal cell carcinoma is a form of malignant skin cancer found on the head and neck regions and has low rates of metastasis. Discover the latest research on basal cell carcinoma here.