Results 1 to 10 of about 2,571 (160)

A novel effect of bevacizumab in reducing characteristic pigmentation in Peutz–Jeghers syndrome: a case report and literature review [PDF]

Frontiers in Oncology
Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation (e.g., perioral melanotic macules) and gastrointestinal hamartomatous polyps, with heightened cancer susceptibility. This report describes a 34-
Delu Wu, Xinyue Liu, Song Wang, Huanyu Zhang, Guofeng Qu, Lina Wang   +5 more
doaj   +2 more sources

Familial pediatric Peutz–Jeghers syndrome with recurrent intussusception: case report and literature review [PDF]

Frontiers in Pediatrics
BackgroundPeutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis, predisposing affected individuals to recurrent small bowel intussusception and ...
Sondes Sahli, Sondes Sahli, Bochra Aziza, Bochra Aziza, Nada Sghairoun, Nada Sghairoun, Asma Slimani, Asma Slimani, Nadia Boujelbene, Nadia Boujelbene, Nadia Boujelbene, Rim Missaoui, Rim Missaoui, Rim Missaoui, Zohra Rahal, Zohra Rahal, Said Jlidi, Said Jlidi   +17 more
doaj   +2 more sources

Early-Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant. [PDF]

Clin Case Rep
ABSTRACT Dyskeratosis congenita (DC) is a rare telomere biology disorder characterized by mucocutaneous abnormalities and progressive bone marrow failure. We report a 10‐year‐old boy with a hemizygous DKC1 c.1058C > T (p.Ala353Val) variant who presented with unusually early mucocutaneous findings, including oral leukoplakia at 2 years of age, followed ...
Kasapoğlu H, Yılmaz AT, Akbeyaz BB, Çalışkan N, Ay Y.   +4 more
europepmc   +2 more sources

Depigmentation Outcomes in Pigmented Oral Lichen Planus Managed With Mycophenolate Mofetil. [PDF]

Clin Case Rep
ABSTRACT Pigmented oral lichen planus (OLP) is a chronic, immune‐mediated mucosal disorder associated with dark black or brown discoloration secondary to the excess melanin deposition. This medical condition is often accompanied by the typical white (reticular) or red (erosive) OLP features and is refractory to conventional therapy. We report a case of
Biswas T, Bajoria AA, Nahar N, Sinha P, Sharan J, Basynat SKC.   +5 more
europepmc   +2 more sources

Isolated Palmar Hyperpigmentation: Rare Presentation of B12 Deficiency. [PDF]

Clin Case Rep
ABSTRACT Vitamin B12 deficiency has a myriad of presentations. Skin hyperpigmentation, especially at the knuckles, is common. However, in rare instances, a patient may present with isolated palmar hyperpigmentation instead of the usual features, such as knuckle hyperpigmentation, smooth tongue, symptoms related to anemia, and neurologic features.
Sankhi MN, Sitaula R, Samadarshi S, Vashisht R, Singh SK.   +4 more
europepmc   +2 more sources

Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair [PDF]

Clinical, Cosmetic and Investigational Dermatology
Xianhe Deng,1,2,* Ziyu Guo,3,* Pancun Chen,1 Mu Niu1 1Department of Dermatology, The Fifth People’s Hospital of Hainan Province, Haikou, People’s Republic of China; 2Department of Dermatology, Affiliated Dermatology Hospital of Hainan ...
Deng X, Guo Z, Chen P, Niu M
doaj   +2 more sources

Peutz-Jeghers syndrome without mucocutaneous pigmentation: a case report. [PDF]

Gastroenterol Hepatol Bed Bench, 2012
Peutz-Jeghers syndrome is a rare condition characterized by mucocutaneous pigmentation, polyposis and an increased cancer risk at a number of gastrointestinal and extra intestinal organs. We present a patient with a history of gastrointestinal bleeding with no mucocutaneous pigmentation.
Mozaffar M, Sobhiyeh MR, Hasani M, Fallah M.   +3 more
europepmc   +3 more sources

Peutz–Jeghers syndrome with concurrent lobular endocervical glandular hyperplasia and sex cord tumor with annular tubules: a case report [PDF]

Frontiers in Medicine
BackgroundPeutz–Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and an increased risk of specific neoplasms, including distinctive gynecological tumors.Case ...
Min Yin, Chunli Lu, Lei Cheng
doaj   +2 more sources

Peutz–Jeghers Syndrome in a Young Ethiopian Male: A Case Report [PDF]

Case Reports in Gastrointestinal Medicine
Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal (GI) tract, pigmented mucocutaneous lesions, and an increased risk of cancer.
Abate Bane Shewaye, Kaleb Assefa Berhane
doaj   +2 more sources

Association of Peutz-Jeghers-like Mucocutaneous Pigmentation with Breast and Gynecologic Carcinomas in Women

Medicine (United States), 2000
Most reports describe an increased risk of malignancy in Peutz-Jeghers syndrome (PJS). We identified individuals with PJS-like pigmentation but no polyposis, designated as isolated mucocutaneous melanotic pigmentation (IMMP), and 1) characterized their clinical features, 2) assessed them for cancer events, and 3) screened a sample of these subjects for
Shannon K Mcdonnell, Lisa Boardman, Lawrence J Burgart   +2 more
exaly   +3 more sources