Peutz-Jeghers syndrome (PJS; MIM 175200) is an autosomal dominant multiple-organ cancer syndrome. It is characterized by brown macules distributed in the perioral skin, oral mucosa, hands and feet, and hamartomatous gastrointestinal polyps that can eventually lead to intestinal obstruction, abdominal pain, bleeding, and anemia. Patients with PJS are at a higher risk of ovarian, testicular, breast, lung, and pancreatic cancers. This predisposition is due to the pathogenic variant in serine/threonine kinase 11 () gene located on chromosome 19p13.3. Here, we present the dermoscopic findings, histopathologic features of acral pigmentation, and DNA sequencing results of the patient with PJS. We also report a successful removal of acral pigmentation using the Q-switched Nd:YAG laser (QSNYL) treatment. Our results suggest that QSNYL therapy could be a treatment option for acral pigmentation in patients with PJS.
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http://dx.doi.org/10.5021/ad.21.215 | DOI Listing |
Diagn Pathol
December 2024
Department of Pathology, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, 210042, China.
Background: Isolated immunohistochemical indicators are limited to diagnose melanocytic neoplasms. This retrospective study is to assess the diagnostic value of combined immunohistochemical analysis targeting preferentially expressed antigen in melanoma (PRAME) and p16 in melanocytic neoplasms, with a detailed focus on arcal lesions.
Methods: This was a single center cohort study from January 2022 to June 2023.
Skin Appendage Disord
December 2024
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Dermatology Department, Mexico City, Mexico.
Introduction: This article presents a case of nail unit melanoma (NUM), highlighting the unusual clinical presentations as those originating from the hyponychium. We discuss how dermoscopy is an essential tool for this pigmented lesion, and how the lack of a standardized guide for NUM underscores the importance of personalized approaches to ensure the best possible outcomes.
Case Presentation: A 72-year-old woman presented with a melanocytic lesion on her right second finger, characterized by a hyperpigmented macule with irregular borders and a heterogeneous distribution of pigment.
Med Mycol J
December 2024
Department of Dermatology, Juntendo University Urayasu Hospital.
A man in his thirties patient visited his previous physician with the chief complaint of a pigmented macule on the sole of his left foot that had steadily grown over the past two years. A dermoscopic examination of the lesion showed a parallel ridge pattern (PRP); therefore, acral-lentiginous melanoma (ALM) was suspected, and the patient was referred to our hospital for a more detailed examination. On closer inspection, PRP had a well-defined and irregular border with no variation in color, which is atypical for ALM which is characterized by asymmetrical structure and variation in colors.
View Article and Find Full Text PDFJ Am Acad Dermatol
November 2024
Department of Dermatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts; Department of Dermatology, Harvard Medical School, Boston, Massachusetts. Electronic address:
Background: Physiologic volar melanotic macules (P-VMM) are understudied. Trauma has been suggested as a predisposing factor. Little has been published over the last several decades.
View Article and Find Full Text PDFClin Exp Dermatol
October 2024
Department of Dermatology, Norfolk and Norwich University Hospital, Norwich, UK.
Cutaneous melanoma in situ (MIS), also known as 'stage 0 melanoma', is a collection of malignant melanocytes in the epidermis and epithelial adnexa, without evidence of microinvasion to the papillary dermis. Distinct histologic subtypes include lentigo maligna (LM), superficial spreading (SS) MIS and acral lentiginous (AL) MIS. LM is the most common subtype, usually diagnosed later in life (median age at diagnosis of 66-72 years) and associated with cumulative ultraviolet radiation exposure.
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