Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome
نویسندگان
چکیده
منابع مشابه
Visual 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 کاملLe 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 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 کاملInfectious keratitis in a patient with kid syndrome.
A 36-year-old man diagnosed with Keratitis-IchthyosisDeafness (KID) syndrome who had loss of vision in his right eye. He had been treated with penetrating keratoplasty on four previous occasions (the last time four years earlier) because of ulcers, corneal leucoma and infections caused by Candida albicans and Pseudomonas aeruginosa. The patient is forced to wear permanent contact lenses because...
متن کاملDental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome
KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood ...
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ژورنال
عنوان ژورنال: Case Reports in Orthopedics
سال: 2020
ISSN: 2090-6749,2090-6757
DOI: 10.1155/2020/8747392