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Lipoid proteinosis

Disease definition

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

ORPHA:530

  • Synonym(s):
    • Hyalinosis cutis et mucosae
    • Urbach-Wiethe disease
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E78.8
  • OMIM: 247100
  • UMLS: C0023795
  • MeSH: -
  • GARD: 3268
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.