Clinical, etiopathogenic, and therapeutic aspects of KID syndrome

F Cammarata‐Scalisi, CE Willoughby… - Dermatologic …, 2020 - Wiley Online Library
Keratitis‐ichthyosis‐deafness (KID syndrome) is a syndromes ichthyoses that is clinically
and genetically heterogeneous requiring early and long‐term multidisciplinary monitoring of …

Keratitis‐ichthyosis‐deafness syndrome: A comprehensive review of cutaneous and systemic manifestations

MM Alsabbagh - Pediatric Dermatology, 2023 - Wiley Online Library
Keratitis‐ichthyosis‐deafness syndrome is a rare genetic disease presenting with
cutaneous, ocular, and otic defects. This comprehensive review provides insight into the …

[HTML][HTML] Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies

D Roshandel, F Semnani, AR Damavandi, A Masoudi… - The Ocular Surface, 2023 - Elsevier
The ocular surface, comprised of the corneal and conjunctival epithelium, innervation
system, immune components, and tear-film apparatus, plays a key role in ocular integrity as …

Advanced Anterior Eye Segment Imaging for Ichthyosis

A Micińska, A Nowińska, S Teper, J Kokot-Lesik… - Journal of Clinical …, 2023 - mdpi.com
The purpose of this study was to describe ocular surface and anterior eye segment findings
in various types of ichthyoses. Methods: This was a single-center prospective observational …

Ocular manifestations of skin diseases with pathological keratinization abnormalities

A Zdebik, N Zdebik, M Fischer - Advances in Dermatology and …, 2021 - termedia.pl
Keratinization means cytodifferentiation of keratinocytes turning into corneocytes in the
stratum corneum. Disorders of keratinization (hyperkeratosis, parakeratosis and …

Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome

K Mc Lean, S Bignotti, M Callea… - Ophthalmic …, 2024 - Taylor & Francis
Background To report ocular manifestations, clinical course, and therapeutic management of
patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome …

KID syndrome: A rare genodermatosis

VK Dey, A Saxena, S Parikh - Indian Dermatology Online Journal, 2020 - journals.lww.com
Cases of KID syndrome are mostly sporadic, but both autosomal recessive and dominant
inheritance have been reported. It is genetically heterogeneous and is caused by missense …

[HTML][HTML] The Clinical Manifestation of p. Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome

Y Xu, M Wang, L Huang, J Hu - Annals of Dermatology, 2022 - ncbi.nlm.nih.gov
Abstract Keratitis-ichthyosis-deafness (KID) syndrome has genetic heterogeneity, and the
clinical manifestations of some patients may overlap with Clouston syndrome. A 34-year-old …

Congenital leukonychia caused by a mutation in GJB2

R Yokoyama, R Hayashi, O Ansai… - European Journal of …, 2021 - stm.cairn.info
1 Leukonychia can be divided into apparent leukonychia including Terry's nail, and true
leukonychia such as leukonychia totalis and partialis [1]. Terry's nail is characterized by …