Physical, oral, and swallowing functions of three patients with type a xeroderma pigmentosum: a report of three cases

BMC Oral Health. 2024 Feb 1;24(1):163. doi: 10.1186/s12903-024-03933-3.

Abstract

Background: Xeroderma pigmentosum (XP) is an extremely rare and severe form of photosensitivity. It is classified into types A-G or V according to the gene responsible for the disease. The progression and severity of symptoms vary depending on the type. Although dysphagia caused by decreased swallowing function and dental malposition due to stenosis of the dentition in the facial and oral regions is common, it has not been reported in detail. We report three cases of type A XP, in which central and peripheral neurological symptoms appeared early on and progressed rapidly. We describe the oral function of these patients, focusing on the swallowing function and dentition malposition.

Case presentation: Two males (27 and 25 years old) and one female (28 years old) presented with diverse neurological symptoms. We focused on the relationship between the changes in swallowing and oral functions and conditions due to decline in physical function. Some effects were observed by addressing the decline in swallowing and oral functions. In particular, a dental approach to manage the narrowing of the dentition, which was observed in all three patients, improved the swallowing and oral functions and maintained the current status of these functions.

Conclusions: In type A XP, early decline in oral and swallowing functions is caused by the early decline in physical function, and it is necessary to monitor the condition at an early stage.

Keywords: Oral approach; Oral function; Physical function; Swallowing function; Xeroderma pigmentosum.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Deglutition
  • Deglutition Disorders* / etiology
  • Female
  • Humans
  • Male
  • Xeroderma Pigmentosum* / complications
  • Xeroderma Pigmentosum* / diagnosis
  • Xeroderma Pigmentosum* / genetics