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Sebocystomatosis

Disease definition

Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.

ORPHA:841

Classification level: Disorder
  • Synonym(s):
    • Steatocystoma multiplex
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Adolescent, Childhood, Adult
  • ICD-10: L72.2
  • ICD-11: 2F22
  • OMIM: 184500
  • UMLS: C0259771
  • MeSH: D062685
  • GARD: 4780  5003
  • MedDRA: 10048905

Summary

Epidemiology

At least 30 cases from unrelated families (over three to five generations) and several sporadic cases have been reported.

Clinical description

Sebocystomatosis usually manifests during the first or second decade of life and affects both sexes, with some studies indicating that the prevalence is higher in males.

Etiology

Sebocystomatosis is caused by mutations in the keratin-17 gene (KRT17, 17q12-q21).

Genetic counseling

An autosomal dominant pattern of inheritance has been suggested.

- Last update: September 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.