Rare Diseases Symptoms Automatic Extraction

Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome.

[proteus syndrome]

Proteus syndrome is a rare disorder with progressive asymmetrical and disproportionate overgrowth of various tissues of the body. The syndrome is characterized by a wide range of malformations, including craniofacial deformities. Extraoral examination revealed several of the classical craniofacial features of Proteus syndrome: pronounced hemifacial hypertrophy, macrodactyly and hyperostosis. Intraoral examination revealed a high arched palate and gingival hyperplasia. Other findings were unilateral enlargement of the tongue, alveolar growth and dilaceration of the roots of the teeth. There were severe degenerative changes and deformities in the left temporomandibular joint but the oversized condyle was asymptomatic; there was no pain, limitation and deviation at mouth opening. Treatment was not necessary owing to the asymptomatic situation but periodic follow-up with clinical and radiographic examination was considered. The aim of this article is to describe the radiographic manifestations of an asymptomatic condyle malformation and other craniofacial, oral and dental findings in a 33-year-old female patient with known Proteus syndrome.

Diseases presenting "overgrowth" symptom

  • achondroplasia
  • cowden syndrome
  • dentin dysplasia
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • lymphangioleiomyomatosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • proteus syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated