Results 51 to 60 of about 8,931 (191)

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Adult‐Onset Still's Disease(AOSD) With Features Suggestive of Macrophages Activation Syndrome in Young Female: A Rare Case Report From Nepal

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Adult‐onset Still's disease (AOSD) is a rare, multisystem autoinflammatory disorder characterized by a classic triad of fever, evanescent rash, and arthritis with diagnostic challenges. We present a case of a previously healthy 22‐year‐old Nepalese female presented with a 1.5‐month history of progressive bilateral lower limb edema and a 13‐day
Sushil Silwal, Krishan Khang Mandal, Gaurav Parajuli, Krishna Adhikari   +3 more
wiley   +1 more source

Clinical decision upon resection or observation of ocular surface dermoid lesions with the visual axis unaffected in pediatric patients [PDF]

, 2015
Ocular surface or epibulbar dermoid lesions may present as limbal dermoids at the corneal limbus or dermolipomas in the conjunctival fornix. The purpose of this study is to review clinical features of ocular surface dermoids (grade I), with the visual ...
Matsuo, Toshihiko
core   +2 more sources

A CASE OF LIMBAL DERMOID

International Journal of Advanced Research
Limbal Dermoids are benign, congenital tumors at the corneoscleral junction that are frequently linked to abnormalities of the ocular surface and possible deformity of the face. Depending on their position and extent, they might affect visual development and vary in size.In this case study, a young female presents with a mass growth in the left eye ...
Silky Saraf, Jitendra Kumar MS
openaire   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

First‐In‐Human Application of Human Umbilical Cord‐Derived Extracellular Vesicles in Tethered Spinal Cord Release Surgery

Journal of Extracellular Vesicles, Volume 14, Issue 6, June 2025.
ABSTRACT Spina bifida is a congenital neural tube defect that has a high risk of secondary neurological deterioration due to tethering of the spinal cord. We present the first application of human umbilical cord‐derived mesenchymal stromal cell‐derived extracellular vesicle (UC‐MSC‐EV) therapy in humans during spina bifida surgery.
Matthias Krause, Janina Gburek‐Augustat, Daniel Gräfe, Roman Metzger, Marco Ginzel, Christoph J. Griessenauer, Lukas Grassner, Daniel Weghuber, Johann Gradl, Daniela Auer, Tanja Schally, Stefan Rund, Carina Kals, Christina Folie, Elisabeth Bayer, Mario Gimona, Eva Rohde   +16 more
wiley   +1 more source

A Case of Coexistence of Aplasia Cutis Congenita and Giant Congenital Melanocytic Nevus: Coexistence of Two Rare Skin Diseases

Chinese Journal of Plastic and Reconstructive Surgery, 2020
: Aplasia cutis congenita (ACC) is a rare disease that is characterized by complete or partial absence of skin at birth, either in a localized or widespread region. Melanocytic nevi refers to tumor-like malformations of the skin or mucous membrane caused
Ping CHEN, Liansheng ZHONG
doaj   +1 more source

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Three Rare Localizations of Intracranial Dermoid Tumors

, 2018
Intracranial dermoid tumors are extracerebral congenital cysts. Dermoid cysts have two types as intradural and extradural. Intradural dermoid cysts are originated from the intracranial cerebrospinal fluid space.
Ümit Eroğlu, Orkhan Mammadkhanlı, Ağahan Ünlü, Onur Özgüral, Aylin Heper Okçu, İhsan Doğan   +5 more
core   +1 more source

Clinical evaluation and surgical intervention of limbal dermoid

Indian Journal of Ophthalmology, 1981
Mohan Madan, Mukherjee G, Panda Anita
doaj   +2 more sources