KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions
2011; Oxford University Press; Volume: 166; Issue: 2 Linguagem: Inglês
10.1111/j.1365-2133.2011.10577.x
ISSN1365-2133
AutoresRichard N. Bergman, Andrew A. Mercer, M. Indelman, Eli Sprecher, Nissim Haim, Lilach Zoller, Ofer Ben‐Izhak, Dov Hershkovitz,
Tópico(s)Nicotinic Acetylcholine Receptors Study
ResumoFunding sources: none. Conflicts of interest: none declared. Madam, KID (keratitis–ichthyosis–deafness) syndrome is a rare ectodermal dysplasia (OMIM 148210) characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis and recurrent bacterial and fungal infections.1 KID syndrome is caused by heterozygous missense mutations in GJB2 encoding connexin (Cx) 26.1 Cxs form the intercellular channels of the gap junction and play an integral part in a variety of biological functions such as maintaining tissue homeostasis, cell growth control and development. A growing body of evidence indicates that the gap junction plays a pivotal role in tumour suppression by regulating cell–cell communication.2 Remarkably, KID syndrome is also associated with an increased susceptibility for squamous cell carcinomas (SCCs) of the skin and tongue which have been observed in at least 10% of patients.1 Erythrokeratotic cutaneous plaques have frequently been observed in patients with KID syndrome as well.3–5 In one case, an SCC was found histopathologically to arise adjacent to a hyperkeratotic plaque which also harboured foci of pseudocarcinomatous hyperplasia (PCH).4
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