Corneal ectasia in ectodermal dysplasia: Novel Tumour Protein 63-related phenotype in Rapp-Hodgkin syndrome.
Vijay Kumar Sharma, Srishti Khullar, Anuroop Nagaraj et al.
✦ AI-curated · Sources linked
Case in brief
A man in his 20s with genetically confirmed Rapp-Hodgkin syndrome presented with progressive visual decline in the left eye over 12 months. Corneal evaluation revealed bilateral keratoconus, with central thinning and steepening in the left eye, and forme fruste keratoconus in the right. Systemic examination showed features of ectodermal dysplasia. He was treated with rigid contact lenses and corneal collagen cross-linking.
What made this case unusual
This case highlights the occurrence of keratoconus in a patient with Rapp-Hodgkin syndrome, expanding the known ocular manifestations associated with TP63 mutations.
Diagnostic / clinical pearl
Clinicians should consider genetic evaluation for atypical or asymmetric keratoconus in young patients, particularly those with features of ectodermal dysplasia.
Why it matters
This case underscores the importance of multidisciplinary management in patients with syndromic corneal ectasia, as well as the need for detailed corneal imaging in individuals with ectodermal dysplasia.