title: Variant Carvajal syndrome with additional dental anomalies.
abstract: BACKGROUND
  This paper aims to review the case of a girl who presented with a number of dental anomalies, in addition to unusual skin, nail and hair conditions. Tragically an undiagnosed cardiomyopathy caused unexpected sudden death. The case is discussed with reference to a number of dermatological and oral conditions which were considered as possible diagnoses.
  
  
  METHODS
  AW had been under long term dental care for prepubertal periodontitis, premature root resorption of primary teeth, soft tissue and dental anomalies, and angular cheilitis. Separately she had also been seen by several dermatologists with respect to palmar plantar keratosis, striae keratoderma, wiry hair and abnormal finger nails. Tragically the patient suffered a sudden unexpected death and the subsequent post mortem identified an undiagnosed dilated cardiomyopathy.
  
  
  CONCLUSIONS
  The most likely diagnosis is that this case is a variant of Carvajal Syndrome with additional dental anomalies. To date we have been unable to identify mutations in the desoplakin gene. We aim to emphasise the importance of recognising these dental and dermatological signs when they present together as a potential risk factor for cardiac abnormalities.
authors.affiliation: Department of Orthodontics, Leeds Dental Institute, Leeds, UK.
authors.forename: Sophy
authors.initials: S
authors.lastname: Barber
authors.forename: Peter
authors.initials: P
authors.lastname: Day
authors.forename: Mary
authors.initials: M
authors.lastname: Judge
authors.forename: Edell O'
authors.initials: EO
authors.lastname: Toole
authors.forename: Stephen
authors.initials: S
authors.lastname: Fayle
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D010520:Aggressive Periodontitis / Q000150:complications* / Q000628:therapy; D000848:Anodontia / Q000150:complications*; D009202:Cardiomyopathies / Q000150:complications* / Q000175:diagnosis; D002311:Cardiomyopathy, Dilated; D002613:Cheilitis / Q000150:complications; D002648:Child; D002675:Child, Preschool; D005260:Female; D006201:Hair Diseases / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007645:Keratoderma, Palmoplantar / Q000150:complications* / Q000175:diagnosis; D009061:Mouth Mucosa / Q000002:abnormalities; D012391:Root Resorption / Q000150:complications*; D014080:Tooth Exfoliation / Q000150:complications; D016388:Tooth Loss / Q000150:complications*; D014094:Tooth, Deciduous / Q000503:physiopathology