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...

We report the case of a 17-year-old girl with keratitis, ichthyosis, and deafness (KID) syndrome. As a complication of her KID syndrome she developed squamous cell carcinoma at the left index finger. Additional clinical features were multiple soft tissue lesions over the scalp mimicking metastatic disease on 18F-FDG PET/CT. To our knowledge, this is the first case report about the uptake patter...

Keratitis-Icthyosis-Deafness (KID) syndrome is a rare dysplasia characterized by vascularizing keratitis, congenital sensorineural hearing-loss, and progressive erythrokeratoderma. To our knowledge, this is the first KID syndrome imaged with FDG-PET in the literature. This paper is intended to help familiarize with the FDG abnormalities related to this rare entity.

Keratitis-ichthyosis-deafness (KID) syndrome is an ectodermal dysplasia caused by dominant mutations of connexin26 (Cx26). Loss of Cx26 function causes nonsyndromic sensorineural deafness, without consequence in the epidermis. Functional analyses have revealed that a majority of KID-causing mutations confer a novel expansion of hemichannel activity, mediated by connexin channels in a nonjunctio...

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 ...

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and developed a T-cell lymphoma so far never described in this group of patients.

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 ...

Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. ...

Mutations in the GJB2 gene-encoding connexin 26 (Cx26) have been linked to skin disorders and genetic deafness. However, the severity and type of the skin disorders caused by Cx26 mutations are heterogeneous. Here we explored the effect of Cx26 KID syndrome-associated mutations, G12R, S17F, and D50N on channel function. The Cx26 N14K mutation was also examined that is associated with deafness b...

INTRODUCTION Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital multisystem disorder affecting certain tissues of ectodermal origin such as epidermis, cochlea, and cornea, leading mainly to palmoplantar hyperkeratosis, ichthyosiform scaling, deafness, and blindness. The author reports for the first time in the Middle East three family members suffering from KID syndrome in the so...