Results 41 to 50 of about 8,735 (185)

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source

Multifocal Epithelioid Hemangioma With FOSB Overexpression

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Epithelioid hemangioma (EH) is a benign vascular tumor that most commonly arises on the skin but may also occur in other anatomical locations, including deep soft tissue, bone, visceral organs, penis, and mucosal sites. A hallmark of EH is overexpression of FOS and FOSB, often resulting from various gene fusions.
Phuong Daniels, Aarush Kumar, Alexa Lum, Izabelle Bermudez, Shannon DeSilva, Jonathan Crane, Kristopher McKay   +6 more
wiley   +1 more source

The Quality of Life Impact of Vascular Anomalies on Patients and Their Families: Experience of a Tertiary Australian Centre

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim Chronic paediatric conditions often significantly impact the patients' and their families' quality of life (QoL). There is a paucity in the medical literature around the QoL impact of paediatric vascular anomalies on patients and their families in the Australian context. This study aims to address this gap.
Kwan Lam (Genevieve) Chow, Gloria Fong, Kelvin Truong, William Luu, Li‐Chuen Wong   +4 more
wiley   +1 more source

Nail Clubbing‐Associated With a Large Segmental Infantile Hemangioma of the Arm in a Patient With PHACES Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Although infantile hemangiomas (IH) are common vascular tumors of childhood, associated nail abnormalities are rare. We report a child with a large segmental IH of the upper limb with marked, ipsilateral nail clubbing, which gradually improved until the age of 7 years.
Stefan Blunder, Lisa Weibel, Nicole Knöpfel, Martin Theiler, Agnes Schwieger‐Briel, Isabelle Luchsinger   +5 more
wiley   +1 more source

Intranodal capillary-cavernous hemangioma: Report of a very rare case

SAGE Open Medical Case Reports, 2019
Mixed type capillary-cavernous hemangioma is a rare vascular anomaly, with an intranodal localization being extremely rare. Its finding is often accidental but may be clinically symptomatic. The diagnosis relies on histopathology, showing a proliferation
Jérôme Tessieras, Jinane Chenaye, Christophe Senechaud, Yara Banz   +3 more
doaj   +1 more source

POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, Volume 101, Issue 10, Page 2632-2651, October 2026.
ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley   +1 more source

Adult capillary hemangioma of the liver: Case report and literature review

Kaohsiung Journal of Medical Sciences, 2011
Primary hepatic capillary hemangioma in adults is very rare. Here, we report a case of hepatic capillary hemangioma in a 71-year-old woman. She had abnormal liver function tests, and abdominal sonography revealed a 2-cm nodular lesion and fatty liver ...
Jie-Yang Jhuang, Long-Wei Lin, Min-Shu Hsieh   +2 more
doaj   +1 more source

Bizarre Parosteal Osteochondromatous Proliferation of the Foot: Case Report and Review of Cases Published in the Last 15 Years

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Bizarre parosteal osteochondromatous proliferation is an exceedingly rare bone tumor that mimics malignant lesions both clinically and radiologically. Atypical imaging findings, such as cortical erosion, may bias the differential diagnosis toward malignant tumors.
Jacobo Kerbel, Iturbide Andrés Ponce de León‐Sandoval, Emilio Remolina Sánchez Rucobo, Roberto Berebichez‐Fridman, Enrique Berebichez‐Fastlicht   +4 more
wiley   +1 more source

Photodynamic Therapy for Juxtapapillary Retinal Capillary Hemangioma

Case Reports in Ophthalmological Medicine, 2014
Various treatment modalities have been described for retinal capillary hemangioma. Our purpose is to present a case of juxtapapillary retinal capillary hemangioma treated with photodynamic therapy.
Panagiotis G. Mitropoulos, Irini P. Chatziralli, Vasileios G. Peponis, Vasileia A. Tsiotra, Efstratios A. Parikakis   +4 more
doaj   +1 more source

Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation‐Region Frameshift Variant

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
A novel KRIT1 initiation‐region frameshift variant, NM_004912.4.2dup [p.(Met1IlefsTer31)], was identified in a pediatric family with familial cerebral cavernous malformation. Marked intrafamilial variability supports early molecular diagnosis, cascade family screening, and susceptibility‐sensitive MRI surveillance. ABSTRACT Background Familial cerebral
Özlem Yayıcı Köken, Mehpare Sarı Yanartaş, Hande Aygün, Ahmet Cevdet Ceylan, Kamil Karaali, Mehmet Saim Kazan   +5 more
wiley   +1 more source