Keratitis, Ichthyosis and Deafness (KID) Syndrome – a Case Report
نویسندگان
چکیده
منابع مشابه
Le Syndrome Kid ou Keratitis-Ichthyosis-Deafness Syndrome: à propos d'un cas
Le syndrome KID est une anomalie congénitale rare des tissus d'origine ectodermique, caractérisé par une kératite bilatérale progressive accompagnée de néovaisseaux (keratitis), une atteinte cutanée érythro-kératodermique et/ou ichtyosique (ichtyosis) et une surdité de perception sévère (deafness). Nous rapportons le cas d'un jeune garçon de 12 ans, suivi depuis deux ans pour ichtyose, qui cons...
متن کاملVisual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome
GJB2: gap junction protein b2 KID: keratitis-ichthyosis-deafness INTRODUCTION Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis with approximately 100 published cases. Although it is classified as an autosomal dominant disorder, more than 90% of cases are caused by sporadic mutations predominantly in gap junction protein b2 (GJB2) on chromosome 13q11-q12 (OMIM 148210). GJB2 ...
متن کاملKeratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad.
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 ...
متن کاملCochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases
Background Keratitis-ichthyosis-deafness (KID) syndrome is a syndrome which presents with hearing loss and visual and keratinization disorders. In such patients, hearing aids cannot be effectively used in the rehabilitation of hearing loss because of the frequent blockage of the external ear canal with epithelial debris and due to dry and tense skin of the external ear canal. Moreover, severe o...
متن کامل[Patient with severe corneal disease in KID syndrome].
CASE REPORT A 33-year-old woman with superficial and deep bilateral corneal vascularization and keratoconjunctivitis sicca, keratoerythema and neurosensory deafness, was diagnosed with keratitis-ichthyosis-deafness (KID) syndrome. DISCUSSION KID syndrome is a congenital ectodermal dysplasia characterized by the association of vascularizing keratitis, hyperkeratotic skin lesions and sensorineu...
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ژورنال
عنوان ژورنال: Serbian Journal of Dermatology and Venerology
سال: 2013
ISSN: 1821-0902
DOI: 10.2478/sjdv-2013-0003