| Autor: |
Bax, Daniel, Piette, Evan, Adhikhari, Prajesh |
| Předmět: |
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| Zdroj: |
Our Dermatology Online / Nasza Dermatologia Online; Jul2021, Vol. 12 Issue 3, p270-272, 3p |
| Abstrakt: |
Dermatologists and dermatopathologists are uniquely positioned to identify BRCA1-associated protein (BAP1)-related cutaneous diseases. Recognition of BAP1 mutations is critical to patients and their families to assure they are appropriately counseled and screened for malignancy. A twenty-year-old male with a history of oculocutaneous albinism type 2 (OCA2) and basal cell carcinoma (BCC) presented to the dermatologist for a full-body skin examination. A 7 mm erythematous papule on the left upper back was biopsied and found to be a BAP1-inactivated melanocytic tumor (BIMT). To our knowledge, this is the first case of oculocutaneous albinism of any type and a BAP1 germline mutation presenting in the same patient. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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