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Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome.
- Source :
-
BMJ case reports [BMJ Case Rep] 2017 Aug 28; Vol. 2017. Date of Electronic Publication: 2017 Aug 28. - Publication Year :
- 2017
-
Abstract
- Cowden syndrome is a rare autosomal dominant condition characterised by mucocutaneous hamartomas and, most importantly, predisposition to various extracutaneous benign and malignant tumours. This disorder is associated with a germline mutation in the phosphatase and tensin homologue gene, a tumour suppressor gene, located on 10q23 chromosome. The expressivity of this genodermatosis is highly variable, therefore many of the cases remain undiagnosed. Skin and mucous findings are very common in Cowden syndrome and may represent the initial clinical manifestation leading to the diagnosis. The authors describe a case of a 58-year-old man with multiple cutaneous sclerotic fibromas associated with a previously unrecognised Cowden syndrome.<br />Competing Interests: Competing interests: None declared.<br /> (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
- Subjects :
- Fibroma etiology
Hamartoma Syndrome, Multiple genetics
Hamartoma Syndrome, Multiple pathology
Hamartoma Syndrome, Multiple surgery
Humans
Male
Middle Aged
PTEN Phosphohydrolase genetics
Rare Diseases
Skin Neoplasms complications
Skin Neoplasms genetics
Treatment Outcome
Fibroma pathology
Hamartoma Syndrome, Multiple diagnosis
Skin pathology
Skin Neoplasms pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1757-790X
- Volume :
- 2017
- Database :
- MEDLINE
- Journal :
- BMJ case reports
- Publication Type :
- Academic Journal
- Accession number :
- 28847996
- Full Text :
- https://doi.org/10.1136/bcr-2017-221695