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Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad

Year: 2025

Type: article

Abstract: RATIONALE: Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal disorder caused by pathogenic mutations in GJB2 gene, which encodes the gap junction protein connexin 26. While the condition is traditionally defined by a triad of keratitis, ichthyosis, and sensorineural hearing loss, emerging evidence suggests that connexin 26 dysfunction may lead to broader systemic involvement. This case highlights a rare presentation with neurological and musculoskeletal abnormalities. PATIENT CONCERNS: A 3-year-old female born at 31 weeks of gestation presented with a history of global developmental delay, recurrent seizures, photophobia, and thick hyperkeratotic skin changes. At birth, she was encased in a collodion membrane and exhibited bilateral eyelid malposition. Her development was marked by delayed milestones, joint stiffness, and poor weight gain. DIAGNOSES: Clinical findings included vascularizing keratitis, lamellar ichthyosis, and right-sided sensorineural hearing loss confirmed by auditory brainstem response testing. Brain imaging revealed moderate enlargement of the cerebral ventricles, and skeletal surveys demonstrated developmental dysplasia of the hip and congenital muscular torticollis. A clinical diagnosis of KID syndrome was made based on the constellation of cutaneous, auditory, neurological, and musculoskeletal abnormalities. While genetic testing was unavailable, the phenotype was strongly suggestive of a pathogenic GJB2 mutation. Although KID syndrome is most commonly caused by autosomal dominant, frequently de novo, mutations-particularly the D50N variant-the apparent autosomal recessive pattern in this pedigree may reflect parental mosaicism, reduced penetrance, or variable expressivity. INTERVENTIONS: The patient received coordinated multidisciplinary care. Dermatologic management involved intensive emollient therapy. Ophthalmologic care included lubricants and surgical correction of eyelid malposition. Antiepileptic medication was initiated for seizure control. Physical therapy addressed joint contractures and improved motor function. OUTCOMES: Following early intervention, dermatologic symptoms stabilized, seizure activity diminished, and gradual improvements in physical function were observed. However, developmental delay and structural brain abnormalities persisted, requiring long-term follow-up and therapy. Parental compliance multidisciplinary care were essential for optimizing care. LESSONS: This case highlights potential atypical manifestations of KID syndrome, including seizures, ventriculomegaly, torticollis, and hip dysplasia, that may reflect a broader but under-recognized phenotypic range.

Source: Medicine

DOI: 10.1097/md.0000000000045577