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Evidence of a nasal ulcer with complete loss of the columella in a 2.5-year-old patient with Lesch-Nyhan disease

Lip manipulation (sucking/biting) and saliva over the perioral tissues are evident. (Source: Eita AA. Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report. BMC Oral Health 2022;22(1):26. Creative Commons Attribution License. http://creativecommons.org/licenses/by/4.0.)

Associated Disorders

  • Choreoathetosis
  • Dystonia
  • Gout
  • Hyperuricemia
  • Intellectual disability
  • Renal stones