Rare Diseases Symptoms Automatic Extraction

Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome.

[proteus syndrome]

The Proteus syndrome was described 1983 . It has asymmetric gigantism of the limbs, verrucous epidermal naevi, cerebriform enlargement of the plantar region, vascular malformations and neoplasms, as lipomas. It received this denomination after Proteus from the Greek mythology, who had the ability to change his form . A 15 year-old boy, reported a congenital hypertrophy with syndactily of the second and third right fingers . The second case is a 35 year-old man, who reported that since birth the second right toe was bigger than the other toes, skin hypertrophy was also observed. These cases document a localized form if the Proteus syndrome, which may widen the spectrum of its variability.

Diseases presenting "localized form" symptom

  • adrenal incidentaloma
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • focal myositis
  • lymphangioleiomyomatosis
  • proteus syndrome

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