An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family
| Autor: | Jean-Hilaire Saurat, M. Harms, Jacqueline Perriard |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Mucocutaneous zone Dermatology Vitiligo Bannayan–Riley–Ruvalcaba syndrome otorhinolaryngologic diseases medicine PTEN Hamartoma Humans Abnormalities Multiple Child Alleles Skin biology business.industry Chromosomes Human Pair 10 Macrocephaly Cowden syndrome Syndrome Lipoma medicine.disease stomatognathic diseases biology.protein medicine.symptom business Hamartoma Syndrome Multiple Follow-Up Studies |
| Zdroj: | Journal of the American Academy of Dermatology. 42(2 Pt 2) |
| ISSN: | 0190-9622 |
| Popis: | We describe a family with the unusual association of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome. The father has characteristic mucocutaneous features that are palmoplantar keratoses, multiple facial papules, oral papillomatoses, lipomas, and vitiligo with involvement of the thyroid and digestive tract. The son presents with pigmented macules of the penis, macrocephaly, and a lipoma that are typical for Bannaya-Riley-Ruvalcaba syndrome. Recent studies have demonstrated that these 2 diseases are allelic disorders at the PTEN locus on chromosome 10q. (J Am Acad Dermatol 2000;42:348-50.) |
| Databáze: | OpenAIRE |
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