Keratoacanthomas, familial D23.L

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Eruptive keratoacanthomes type Ferguson-Smith; Ferguson-Smith disease; Keratoacanthomas eruptive type Ferguson-Smith; MSSE; Multiple self-healing squamous epithelioma of Ferguson-Smith; OMIM 132800

History
This section has been translated automatically.

Ferguson Smith, 1934

Definition
This section has been translated automatically.

Rare autosomal-dominantly inherited tumor disease first described in individuals of Scottish origin, but also observed in other populations, characterized by newly developing keratoacanthomas over years and decades. In contrast to the non-familial form, the initial manifestation of the disease is in late childhood.

Etiopathogenesis
This section has been translated automatically.

mutations of the gene MSSE (multiple self-healing squamous epithelioma) mapped on gene locus 9q31 and the TGFBR1 gene (transforming grwoth factor beta receptor1) mapped on gene locus 9q22.

Manifestation
This section has been translated automatically.

Mostly occurring in early adulthood (average age is 52.6 years).

Localization
This section has been translated automatically.

Chronically light-exposed areas of the body. Face, trunk, extremities.

Clinical features
This section has been translated automatically.

In late childhood first manifested, generalized, familial disease with multiple, solitary but also aggregated, skin-colored or reddish-brownish horny papules (in case of a somewhat longer existence formation of a central horn plug - typical picture of the classical keratoacanthoma), which may heal under scarring and mutilation. The aggressiveness and expressiveness of the disease increases significantly with age.

Therapy
This section has been translated automatically.

Acitretin (neotigason) initial 0,5-1 mg/kg bw/day, reduction to maintenance dose.

Progression/forecast
This section has been translated automatically.

Healing with formation of retracted scars, malignant degeneration possible.

Literature
This section has been translated automatically.

  1. Akar A et al (2003) Multiple keratoacanthomas arising on skin lesions of pseudoxanthoma elasticum. J Eur Acad Dermatol Venereol 16: 533-534
  2. Broesby-Olsen S et al (2008) Multiple self-healing squamous epithelioma of Ferguson-Smith: observations in a Danish family covering four generations. Acta Derm Venereol 88: 52-56
  3. Cherif Fet al. (2002) Multiple keratoacanthoma centrifugum marginatum. Ann Dermatol Venereol 129: 413-415
  4. Ferguson Smith J (1934) A case of multiple primary squamous-celled carcinomata of the skin in a young man, with spontaneous healing. Brit J Derm 46: 267-272
  5. Ferguson-Smith MA et al (2014) Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus. Int J Biochem Cell Biol 53:520-525
  6. Goudie DR et al (2011) Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet 43:365-369
  7. Kang HC et al (2013) Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology. J Invest Dermatol 133:1907-19010
  8. Kato N et al (2003) Ferguson Smith type multiple keratoacanthomas and a keratoacanthoma centrifugum marginatum in a woman from Japan. J Am Acad Dermatol 49: 741-746
  9. Ogasawara Y et al (2003) A case of multiple keratoacanthoma centrifugum marginatum: response to oral etretinate. J Am Acad Dermatol 48: 282-285
  10. Robertson SJ et al (2010) Severe exacerbation of multiple self-healing squamous epithelioma (Ferguson-Smith disease) with radiotherapy, which was successfully treated with acitretin. Clin Exp Dermatol 35:e100-10
  11. Schwartz RA et al (2003) Generalized eruptive keratoacanthoma of Grzybowski: follow-up of the original description and 50-year retrospect. Dermatology 205: 348-352

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 29.10.2020