Gorlin-Goltz Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Gorlin-Goltz syndrome or Gorlin syndrome , also basal cell nevus syndrome , Fifth phakomatosis or nevus epitheliomatodes multiplex called, is a hereditary disorders (autosomal dominant), in which the affected numerous basal cell carcinomas develop in combination with multiple jaw cysts and rib anomalies. Other names are Hermans-Grosfeld-Spaas-Valk syndrome and Ward's syndrome II .
The first two terms go back to the description by the US human geneticist and stomatologist Robert James Gorlin (1923-2006) and the dermatologist Robert William Goltz (1923-2014) in 1960.
Epidemiology
The frequency is given as 1–9 in 100,000.
The inheritance is autosomal dominant , the main manifestation is between 30 and 50 years of age.
Some sources claim that women are more likely to be affected, others claim that there is no gender difference.
root cause
The disease is based on mutations in the PTCH1 gene (9q22.3) for the patched receptor .
Diagnosis
Diagnostic criteria are:
- Multiple basaliomas
- Multiple jaw cysts, cherubism-like face
- Rib anomalies, fork ribs, spinal curvatures
- Agenesis of the corpus callosum, calcification of the falx cerebri
- angular skull shape, widened bridge of the nose, hypertelorism
- Palmo-plantar keratosis
- Ovarian fibroids, hypogonadism
Differential diagnosis
Must be distinguished are the Trichoepithelioma (Brooke syndrome epithelioma adenoid cystic), all other neurocutaneous syndromes that Lewandowsky-Lutz syndrome and the cherubism . Also the Bazex syndrome , Greig syndrome and Muir-Torre syndrome .
clinic
As a rule, pale to brownish pigmented nodules appear early on in the area of the face. Those affected show a typical face shape with a protruding lower jaw and an arched forehead. Often, cysts originating from the teeth are found in the area of the jaws . Skeletal malformations, for example of the ribs and vertebrae , as well as hyperkeratosis of the soles and palms are common.
therapy
Due to constant new basal cell carcinomas, the patients often have to undergo surgery, sometimes large areas of the skin have to be transplanted. A medulloblastoma can develop as a complication in childhood ; this occurs in 5–10% of those affected by the disease.
history
As early as 1872, Moriz Kaposi (1837–1902) described an individual case .
literature
- Konrad Bork, Walter Burgdorf, Nikolaus Hoede: Oral mucous membrane and lip diseases: Clinic, diagnostics and therapy. Atlas and manual. Schattauer Verlag, 2008, ISBN 978-3-7945-2486-0 .
- LL Muzio: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). In: Orphanet Journal of Rare Diseases. 3, 2008, p. 32. doi: 10.1186 / 1750-1172-3-32 (review article in Open Access )
Web links
- Gorlin-Goltz Syndrome. In: Online Mendelian Inheritance in Man . (English)
Individual evidence
- ↑ a b c B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .
- ↑ Who named it
- ^ W. Burgdorf: Robert J. Gorlin (1923-2006). In: C. Löser, G. Plewig (Ed.): Pantheon der Dermatologie. Heidelberg, Springer 2008, pp. 362-366.
- ^ WH Burgdorf, RS Padilla, M. Hordinsky: In memoriam: Robert W. Goltz (1923-2014). In: J Am Acad Dermatol. 71, 2014, pp. E163 – e165.
- ↑ RJ Gorlin, RW Goltz: Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. In: The New England Journal of Medicine . Volume 262, May 1960, pp. 908-912, ISSN 0028-4793 . doi: 10.1056 / NEJM196005052621803 . PMID 13851319 .
- ↑ a b c d Gorlin-Goltz syndrome. In: Orphanet (Rare Disease Database).
- ↑ M. Kaposi: Idiopathic multiple pigment sarcoma of the skin. In: Archives for Dermatology and Syphilis . Prague, 4, 1872, pp. 265-273.
