Results 51 to 60 of about 637,894 (240)

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Abbas F. Jawad, Allison Thomas, Nina H. Thomas, Hakon Hakonarson, Leslie Castelo‐Soccio, Sarah E. Sheppard   +10 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Clinical and pathological characteristics of childhood blue nevus

Pifu-xingbing zhenliaoxue zazhi
[Objective] To summarize the clinical, dermatoscopic and pathological features of blue nevus in children. [Methods] Clinical data, dermatoscopic images, and pathological reports were collected from 104 children with blue nevus at the dermatology ...
YANG Xueqi, YANG Xinyu, CHEN Qian, ZHU Lei, QIAN Hua   +4 more
doaj   +1 more source

Sirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report

SAGE Open Medical Case Reports, 2022
Blue rubber bleb nevus syndrome is a very rare systemic vascular malformation frequently affecting the skin and the gastrointestinal tract. The pathogenesis of the disease is still unclear, and the standard treatment does not exist.
Jian-Xun Ma, You-Chen Xia, Li-Ping Zou, Heng-Ju Lin, Xu Chang, Li-Ying Liu, Joy Roechelle A. Toledo   +6 more
doaj   +1 more source

A Rare Intraoral Manifestation of Nevus of Ota - A Case Report [PDF]

, 2016
Nevus of Ota is a dermal melanocytic nevus which is characterized by benign hamartomatous hyperpigmentation. Clinically it presents as a congenital or acquired blue or gray patch on the face and is distributed on the ophthalmic, maxillary, and mandibular
Ajila, Vidya, Babu, Subhas G, Castelino, Renita L, Ghosh, Rumela, Nair, Mithula   +4 more
core   +4 more sources

Poliosis overlying a nevus with blue nevus features

Dermatology Online Journal, 2008
Poliosis is a localized patch of gray or white hair. Because it can be seen with a variety of disorders and drugs, a full history and exam is indicated. Additionally, it can be associated with underlying benign and malignant tumors, necessitating histological identification. We review the lesions that are reported with poliosis.
Young, Lorraine C, Dyke, Gregory S Van, Lipton, Shira, Binder, Scott W   +3 more
openaire   +5 more sources

Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome

Medicine, 2018
Rationale: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations. The gastrointestinal bleeding and secondary iron deficiency anemia are the most common complications.
Ke-ling Wang, Shu-Fang Ma, L. Pang, Meng-Na Zhang, Lin-Yan Hu, Meng-Jia Liu, L. Zou   +6 more
semanticscholar   +1 more source

Skin Diseases in Long‐Distance Runners

JEADV Clinical Practice, EarlyView.
ABSTRACT Long‐distance running, including both road running and trail/mountain running, has significantly increased in popularity in recent years. The prolonged, repetitive physical activity combined with environmental exposures predisposes runners to a range of dermatological problems.
Henna Ahomies, Vincent Descamps, Stéphanie Leclerc‐Mercier, Nicolas Kluger   +3 more
wiley   +1 more source

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. [PDF]

, 2009
BRAF and NRAS are common targets for somatic mutations in benign and malignant neoplasms that arise from melanocytes situated in epithelial structures, and lead to constitutive activation of the mitogen-activated protein (MAP) kinase pathway.
Barsh, Gregory S, Bastian, Boris C, Bauer, Jürgen, Bezrookove, Vladimir, Gaugler, Lona, Green, Gary, O'Brien, Joan M, Simpson, Elizabeth M, Van Raamsdonk, Catherine D   +8 more
core  

Blue rubber bleb nevus syndrome: endoscopic treatment with sclerotherapy during double-balloon enteroscopy in a 9-year-old boy

Endoscopy, 2019
Blue rubber bleb nevus syndrome (BRBNS), also called Bean syndrome, is a rare disease associated with multiple venous malformations essentially in the skin and the gastrointestinal (GI) tract [1, 2].
Maria Carolina Santos Malafaia, S. Heissat, P. Jacob, C. le Gall, M. Ruiz, J. Saurin, M. Pioche   +6 more
semanticscholar   +1 more source