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Deformed lower lip with ulcer involving both the oral mucosa and vermillion lip border in Lesch-Nyhan disease

A deformed lower lip with an extensive ulcer involving both the oral mucosa and vermillion lip border in a patient with Lesch-Nyhan disease. The ulcer has well-defined regular borders and a central yellowish membrane. A white halo surrounds the ulcer borders indicating hyperkeratosis. (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