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Unusual association of diseases/symptoms
CASE REPORT
Salzmann nodular degeneration features in a case of Kabuki make-up syndrome
  1. Amélia Martins1,
  2. Mariana Almeida Oliveira1,
  3. Andreia Rosa1,2 and
  4. Joaquim Murta1,2
  1. 1 Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
  2. 2 Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  1. Correspondence to Dr Amélia Martins, martins.amelia9{at}gmail.com

Abstract

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome with diversified ophthalmological manifestations. We report a case of a boy with bilateral features of Salzmann nodular degeneration (SND) associated with KS. An 18-year-old Caucasian man with KS presented for a second opinion regarding incapacitating photophobia in his right eye, refractory to medical therapy. Biomicroscopy revealed bilateral subepithelial nodules in the midperiphery of the cornea, less extensive in the left eye, consistent with SND. Symptomatic improvement was achieved after superficial keratectomy, manually performed with a blade and adjuvant application of mitomycin C. We report a rare case of a KS patient with SND. Since KS manifestations may vary widely, it is important to perform an early ophthalmological examination for prompt detection and treatment of ocular abnormalities and thus improve life quality in these patients.

  • eye
  • genetics
  • ophthalmology
  • anterior chamber
  • congenital disorders

https://doi.org/10.1136/bcr-2018-228010

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    Footnotes

    • Contributors AM contributed to the follow-up of the patient during the postoperative period, to the data collection and to the writing of manuscript. MAO contributed to the preoperative evaluation of the patient, data collection, including the anterior segment photographs, and was the assistant surgeon. AR was the main surgeon, contributed to data collection and interpretation of the anterior segment OCT images. JM contributed to the follow-up of the patient during the preoperative and the postoperative period and helped in the therapeutic decision. All authors contributed to development of the manuscript or provided critical content revisions.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Obtained.