Corneal ectasia in ectodermal dysplasia: Novel Tumour Protein 63-related phenotype in Rapp-Hodgkin syndrome.

چکیده اصلی

A man in his 20s with genetically confirmed Rapp-Hodgkin syndrome experienced a progressive decline in visual acuity in the left eye over 12 months. Corneal assessment revealed bilateral keratoconus: the left eye showed central thinning (Tmin 408 µm) and steepening (Kmax 55.98 D), while the right eye had forme fruste keratoconus (Tmin 465 µm, Kmax 45.6 D). Slit-lamp biomicroscopy demonstrated Vogt's striae, an incomplete Fleischer's ring and prominent corneal nerves. Systemic examination identified hypodontia, nail dystrophy, a fissured tongue and characteristic facial dysmorphisms. Whole-exome sequencing confirmed a pathogenic TP63 variant. The patient was fitted with rigid contact lenses for visual rehabilitation, and corneal collagen cross-linking was performed to halt progression.Learning points: Keratoconus may occur in TP63-related Rapp-Hodgkin syndrome, broadening its ocular phenotype. Individuals with ectodermal dysplasia should undergo detailed corneal imaging. Atypical or asymmetric keratoconus in young patients warrants genetic evaluation. Multidisciplinary management is crucial for syndromic corneal ectasia.

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