Infectious keratitis in a patient with KID syndrome

Bermudez-Ruiz, Maria Pilar; Gómez-Moyano, Elisabeth; Sainz-Rodríguez, Rocío; Garín-Ferreira, Rafael

doi:10.1016/j.eimce.2017.11.010

Cited by 2 publications

(1 citation statement)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…KID eye features 8 are corneal epithelial defects, including scarring and neovascularization, which may lead to progressive loss of vision and may eventually lead to blindness. It can also be characterized by photophobia, dry eyes, blepharitis, corneal leukoplakia and conjunctivitis 9 . It can also be complicated with severe ocular infection.…”

Section: Discussionmentioning

confidence: 99%

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

Wang

Ling

et al. 2022

Ann Dermatol

View full text Add to dashboard Cite

Keratitis-ichthyosis-deafness (KID) syndrome has genetic heterogeneity, and the clinical manifestations of some patients may overlap with Clouston syndrome. A 34-year-old female patient came to our department with a complain of “sparse hair, rough skin, photophobia and deafness for more than 30 years.” We found that the proband and two other family members (57-year-old mother and 4-year-old daughter) had similar clinical manifestations: systemic hair loss, generalized skin hyperkeratosis, especially in the metacarpophalangeal area. Subungual hyperkeratosis, finger/toenail dystrophy, as well as photophobia and epiphora. According to the investigation, one of the family members also had similar clinical manifestations (grandfather of the proband) and he’s died. The other three members of the family had no hearing impairment, and all patients had typical nail dystrophy, hair loss and palmoplantar hyperkeratosis, similar like as seen in Clouston syndrome, so we suspected to diagnose the case as Clouston syndrome. However, after genetic testing, it was found that the proband, his mother and daughter all had p.Asp50Asn heterozygous mutations in the GJB2 gene, and no mutation was detected in GJB6 . The modified diagnosis was KID syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

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

Wang

Ling

et al. 2022

Ann Dermatol

View full text Add to dashboard Cite

show abstract

Ocular Manifestations, Treatment Outcome and Clinical Course of Infective Keratitis of Keratitis-Ichthyosis-Deafness Syndrome

Son

Paik

Cho

et al. 2019

J Korean Ophthalmol Soc

View full text Add to dashboard Cite

Purpose: To report the ocular manifestations and treatment outcomes of infective keratitis in a patient with keratitis-ichthyosis-deafness (KID) syndrome and to report a newly discovered mutation in the GJB2 gene in Korea. Case summary: A 32-month-old boy was referred to the Ophthalmology Clinic for bilateral corneal opacity and glare. The patient showed alopecia, hyperkeratotic skin in both limbs, and hearing loss in both ears. Ocular examination showed loss of eyebrows and eyelashes, hyperkeratotic lesions of the eyelids, mucopurulent discharge in the eyelids, and opacity and scarring with superficial vascularization and conjunctivalization in both corneas. Molecular analysis showed a pathogenic variant in the GJB2 gene and confirmed the diagnosis of KID syndrome. Superficial keratectomy and amniotic membrane transplantation were performed in both eyes. Corneal opacity recurred in the left eye; treatment with bevacizumab eyedrops was instituted and penetrating keratoplasty was performed in the left eye. Corneal stromal opacity relapsed in the left eye; 5% vancomycin and 5% ceftazidime eyedrops were started and methicillin-resistant Staphylococcus aureus was cultured from a corneal scraping specimen. Conclusions: A careful observation of ocular manifestations in KID syndrome is needed to prevent infective keratitis and limbal cell deficiency; intensive antibiotic eyedrop treatment is recommended to prevent permanent visual impairment.

show abstract

Infectious keratitis in a patient with KID syndrome

Cited by 2 publications

References 13 publications

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

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

Ocular Manifestations, Treatment Outcome and Clinical Course of Infective Keratitis of Keratitis-Ichthyosis-Deafness Syndrome

Contact Info

Product

Resources

About