Results 181 to 190 of about 758,852 (295)

Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis

JAAD Case Reports, 2018
George D. Glinos, BS, Irena Pastar, PhD, Alessio Giubellino, MD, Marjana Tomic-Canic, PhD, Mariya Miteva, MD, Rivka C. Stone, MD, PhD   +5 more
doaj   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Case report: Carcinoma en cuirasse-widespread cutaneous metastases from breast adenocarcinoma. [PDF]

Front Oncol
Wei C, Long J, Yang T, Zhou H, Chai X.
europepmc   +1 more source

The development of 2 clonally and histologically distinct subtypes of extranodal B-cell lymphomas in the brain and skin in 1 individual

JAAD Case Reports
Daniel Joffe, BS, Thomas Z. Rohan, BS, Jenna Mandel, BS, Jayson Suriano, BA, Lauren Banner, BS, Alexander Valiga, MD, Pierluigi Porcu, MD, Jerald Z. Gong, MD, Jason B. Lee, MD, Onder Alpdogan, MD, Neda Nikbakht, MD, PhD   +10 more
doaj   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Tropical infectious diseases and skin manifestations: a diagnostic framework. [PDF]

Curr Opin Infect Dis
Cologgi G, Giurco M, Donadoni R, Sepulcri C, Bassetti M.   +4 more
europepmc   +1 more source

Cutaneous amœbiasis

Journal of British Surgery, 1961
M, PAUL, M, ABEYARATNE
openaire   +2 more sources

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Biologics-induced cutaneous pseudolymphomas: a narrative review with an illustrative case of brodalumab-induced pseudolymphoma. [PDF]

Drugs Context
Almeida-Silva G, Tribolet de Abreu I, Monteiro F, de Vasconcelos P, Filipe P, Antunes J.   +5 more
europepmc   +1 more source

Methotrexate-induced cutaneous ulceration in 3 nonpsoriatic patients: Report of a rare side effect [PDF]

, 2017
Chibnall, Rebecca J, Lewis, Hal A, Musiek, Amy C, Nemer, Kathleen M   +3 more
core   +2 more sources