Results 51 to 60 of about 8,171 (177)

Endobronchial Myoepithelioma With Fluorodeoxyglucose Uptake

open access: yesRespirology Case Reports, Volume 14, Issue 8, August 2026.
We report a 43‐year‐old woman with endobronchial myoepithelioma. Bronchoscopy revealed a smooth, elevated lesion obstructing the lingular bronchus, in which positron emission tomography/computed tomography showed fluorodeoxyglucose uptake. We performed left upper lobectomy and finally diagnosed myoepithelioma based on pathological findings including ...
Taro Abe   +9 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

open access: yesActa Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg   +9 more
wiley   +1 more source

Hereditary ectodermal dysplasia: Report of 11 patients from a family

open access: yesIndian Journal of Dental Research, 2013
Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs) in 11 individuals over two generations in one family.
Seema Vaidya   +3 more
doaj   +1 more source

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review

open access: yesOrphanet Journal of Rare Diseases, 2022
Objective The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation.
Marina Cerezo-Cayuelas   +6 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

open access: yesAnatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci   +4 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

open access: yesThe Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal   +3 more
wiley   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

open access: yesClinical Genetics, Volume 110, Issue 1, Page 3-14, July 2026.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise   +5 more
wiley   +1 more source

Ankyloblepharon‐ectodermal defects‐cleft lip/palate syndrome: a case report highlighting the importance of clinical diagnosis in a rare hereditary disorder

open access: yes
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Aikaterini Kyriakou   +7 more
wiley   +1 more source

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants

open access: yesExperimental Dermatology, Volume 35, Issue 7, July 2026.
ABSTRACT The diagnosis of an ectodermal dysplasia (ED) is often made by dermatologists. Some of the more than 50 distinct ectodermal dysplasias, however, are still largely unknown and their pathogenesis is poorly understood. Since we recently discovered that variants of the Interferon Regulatory Factor 6 (IRF6) gene IRF6 may cause ED, we have further ...
Holm Schneider   +7 more
wiley   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

open access: yesJournal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda   +31 more
wiley   +1 more source

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