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Familial cutaneous collagenoma

Disease definition

Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.

ORPHA:53296

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent
  • ICD-10: L94.8
  • ICD-11: LC2Y
  • OMIM: 115250
  • UMLS: C0406817
  • MeSH: -
  • GARD: 9799
  • MedDRA: -

  A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Polski (2017, pdf)

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.