Results 61 to 70 of about 10,344 (216)
Oral pigmented lesions: clinicopathologic features and review of the literature [PDF]
, 2012 Diagnosis of pigmented lesions of the oral cavity and perioral tissues is challenging. Even though epidemiology may be of some help in orientating the clinician and even though some lesions may confidently be diagnosed on clinical grounds alone, the ...
da Silva-Jorge, Rogério +4 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley +1 more source
SUMOylation regulates LKB1 localization and its oncogenic activity in liver cancer [PDF]
, 2019 BACKGROUND: Even though liver kinase B1 (LKB1) is usually described as a tumor suppressor in a wide variety of tissues, it has been shown that LKB1 aberrant expression is associated with bad prognosis in Hepatocellular Carcinoma (HCC).
Díaz Moreno, Irene +4 more
core +1 more source
APMIS, Volume 134, Issue 5, May 2026.ABSTRACT Familial adenomatous polyposis (FAP) is a hereditary condition marked by the growth of hundreds to thousands of adenomatous polyps in the colon and rectum, significantly elevating the risk of colorectal cancer (CRC) if left untreated. Caused by pathogenic variants in the APC gene, FAP is typically identified in adolescence, often leading to ...
John Gásdal Karstensen
wiley +1 more source
Solitary Peutz-Jeghers Polyp in a Paediatric Patient
Case Reports in Gastroenterology, 2010 Hamartomatous polyps of Peutz-Jeghers are mostly found in patients affected by Peutz-Jeghers syndrome (PJS), but they can be rarely encountered in the general population. It is unclear whether a solitary Peutz-Jeghers polyp (PJP) is an incomplete form of
Giuseppe Retrosi +6 more
doaj +1 more source
Therapeutic balloon-assisted enteroscopy [PDF]
, 2009 Since the introduction of the first balloon-based enteroscopic technique in 2001, therapeutic balloon-assisted enteroscopy (BAE) using either the single or double balloon enteroscopy technique (respectively SBE and DBE) has evolved rapidly.
Aktas, H. (Huseyin) +1 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Síndrome de Peutz-Jeghers: relato de caso
Revista do Colégio Brasileiro de CirurgiõesPeutz-Jeghers syndrome (PJS) is a dominant autosomal inherited disorder characterized by intestinal hamartomatous polyps in association with mucocutaneous melanocytic maculae.
Aderivaldo Coelho de Andrade +4 more
doaj +1 more source
Journal of Pediatric Surgery Case Reports, 2020 A 13-year-old girl presented with sudden-onset colicky abdominal pain and biliary vomiting. She was diagnosed with Peutz-Jeghers syndrome 2 months previously based on mucocutaneous pigmentation and hamartomatous polyposis.
Yoshiko Nakayama +5 more
doaj +1 more source
Journal of Medical Genetics, 1997 Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites.
Tomlinson, I, Houlston, R
openaire +3 more sources