Dermatology online journal, 2016-05, Vol.22 (5)
2016
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Details
- Autor(en) / Beteiligte
- Titel
- Lhermitte-Duclos Disease in association with Cowden Syndrome
- Ist Teil von
- Dermatology online journal, 2016-05, Vol.22 (5)
- Ort / Verlag
- United States
- Erscheinungsjahr
- 2016
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Cowden syndrome (CS) is a rare genetic disorder with autosomal dominant inheritance, linked to germline mutations in the PTEN tumor suppressor gene on chromosome 10. Cowden syndrome often co-exists with Lhermitte-Duclos disease (LDD), with LDD included as a major criterion in CD diagnosis. This case involves a woman presenting with many of the classic diagnostic criterions and associations of CD, as well as with several comorbidities and unique objective findings.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1087-2108eISSN: 1087-2108DOI: 10.5070/D3225030942Titel-ID: cdi_proquest_miscellaneous_1819432821
- Format
- –
- Schlagworte
- Breast Neoplasms - complications, Cerebellar Neoplasms - complications, Cerebellar Neoplasms - diagnostic imaging, Female, Ganglioneuroma - complications, Ganglioneuroma - diagnostic imaging, Hamartoma Syndrome, Multiple - complications, Hamartoma Syndrome, Multiple - diagnosis, Hamartoma Syndrome, Multiple - genetics, Humans, Keratoderma, Palmoplantar - complications, Keratoderma, Palmoplantar - diagnosis, Magnetic Resonance Imaging, Middle Aged, PTEN Phosphohydrolase - genetics, Skin Neoplasms - complications, Skin Neoplasms - diagnosis