Rare Diseases Symptoms Automatic Extraction

Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots.

[gm1 gangliosidosis]

A 7-month old girl with GM1 gangliosidosis type 1 manifested with diffuse ecchymosis and Mongolian spots. The cutaneous lesions were present at birth before the appearance of the other features of the disease. We postulate that dermal pigmentation may be recognized as an early sign of GM1 gangliosidosis.

Diseases presenting "pigmentation" symptom

  • aniridia
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cushing syndrome
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • gm1 gangliosidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kallmann syndrome
  • kindler syndrome
  • oculocutaneous albinism
  • oral submucous fibrosis
  • phenylketonuria
  • proteus syndrome
  • wiskott-aldrich syndrome

This symptom has already been validated