Novel variant c.148G&gt;T of GJB2 gene in a 5-year-old child with KID syndrome

Caroppo, Francesca; Szekely, Serena; Fortina, Anna Belloni

doi:10.4103/idoj.idoj_603_20

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Severe Atopic Eczema Treated By Dupilumab In a Child With Ke...1

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2024

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Cited by 3 publications

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“…1 The p.Asp50Tyr mutation described in our case was found to induce increased intracellular Ca 2+ concentration and showed a more frequent phenotype of dental defects. [2][3][4] The treatment for KID syndrome is purely individualized based on specific involved organs. Acitretin was reported effective in reducing thickening skin lesions, 5 which was used without noticing further advancement of corneal neovascularization.…”

Section: Severe Atopic Eczema Treated By Dupilumab In a Child With Ke...mentioning

confidence: 99%

Severe atopic eczema treated by dupilumab in a child with keratitis–ichthyosis–deafness syndrome

Sun

Wang

et al. 2022

Aust J Dermatology

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Section: Severe Atopic Eczema Treated By Dupilumab In a Child With Ke...mentioning

confidence: 99%

Severe atopic eczema treated by dupilumab in a child with keratitis–ichthyosis–deafness syndrome

Sun

Wang

et al. 2022

Aust J Dermatology

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

Alsabbagh

2022

Pediatric Dermatology

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Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management

Montanari,

Caroppo,

Amabile

et al. 2024

Dermatol Reports

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Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by the triad of hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness, with less than 100 cases described in the literature. In addition to many other extra-cutaneous manifestations, these patients are burdened by two principal increased risk factors involving the skin: the risk of developing infections and the risk of developing malignant skin tumors, especially Squamous Cell Carcinoma and Trichilemmal tumors. We present the case of a 7-year-old girl with a unique genetic variant described to date, who developed 4 dyskeratotic neoformation. Since the dermatoscopic examination was not sufficient to exclude malignancy, excisional and punch biopsies were used. Nonetheless, healing was challenging, with wound dehiscence and infection onset. Ad hoc wound care management resorting to negative pressure therapy and advanced medical honey-based dressings was necessary to achieve complete wound healing.

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Novel variant c.148G>T of GJB2 gene in a 5-year-old child with KID syndrome

Cited by 3 publications

References 5 publications

Severe atopic eczema treated by dupilumab in a child with keratitis–ichthyosis–deafness syndrome

Severe atopic eczema treated by dupilumab in a child with keratitis–ichthyosis–deafness syndrome

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

Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management

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