Results 61 to 70 of about 1,259,928 (183)

Comparative diagnostic challenges in two horses with skin fragility disorders

Equine Veterinary Education, EarlyView.
Summary Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive connective tissue disorder of horses caused by a missense mutation (c.115G>A) in the peptidyl‐prolyl cis–trans isomerase B (PPIB) gene, resulting in defective collagen organisation.
M. Biolchi, F. A. Saiki, T. G. Cristo, M. C. Silva, R. J. Souza, A. F. Souza, R. A. Casagrande, J. H. Fonteque, C. I. G. Vogel   +8 more
wiley   +1 more source

GIQLI score (individual spot and means) according to the presence of Ehlers-Danlos syndrome.

, 2013
GIQLI score (individual spot and means) according to the presence of Ehlers-Danlos syndrome.
Benoît Coffin (488926), Vincent de Parades (488924), Jérémie H. Lefèvre (488923), Iradj Sobhani (231620), Jean-David Zeitoun (488922), Claude Hamonet (488927), César Séjourné (488925)   +6 more
core   +1 more source

Az Ehlers–Danlos-szindrómák korszerű osztályozása és multidiszciplináris tünettana = Up-to-date classification and multidisciplinary symptoms of Ehlers–Danlos syndromes [PDF]

, 2019
Absztrakt: A szerzők a ritka, örökletes kötőszöveti betegségek közé tartozó Ehlers–Danlos-szindrómacsoportra vonatkozó korszerű, nemzetközi osztályozáson alapuló klinikai ismereteket foglalják ...
Márta Medvecz, Kiss, Norbert, Horváth, Krisztina, Kárpáti, Sarolta, Sarolta Kárpáti, Ralovich, Fanni Virág, Fanni Virág Ralovich, Krisztina Horváth, Medvecz, Márta, Norbert Kiss   +9 more
core   +1 more source

Using the suture/adhesive strips combination technique for skin closure in an individual with Ehlers–Danlos Syndrome

JPRAS Open, 2019
Combining sutures with adhesive strips to avoid the ‘cheese-wiring’ effect in individuals with fragile skin is a method that has been described previously. Here we demonstrate its application in an individual with Ehlers-Danlos Syndrome. Keywords: Cheese-
S. Shaharan, J.C.Y. Chan, T. Bage, J. Kelly   +3 more
doaj   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series

BMC Ophthalmology, 2019
Background The Ehlers-Danlos syndromes are a heterogenous group of diseases that cause connective tissue defects. At present, there are no published reports focusing upon the neuro-ophthalmic symptoms that might occur in EDS patients after mild traumatic
Abhishek Gami, Eric L. Singman
doaj   +1 more source

Solitary Lesion With Features of Atrophic Papulosis in Early Childhood

Pediatric Dermatology, EarlyView.
ABSTRACT Atrophic papulosis (Köhlmeier‐Degos disease) is a rare thrombo‐occlusive vasculopathy classically presenting with multiple porcelain‐white atrophic papules and a high risk of progression to systemic involvement. We report a 2‐year‐old girl presenting with clinical, dermoscopic, and histologic findings of atrophic papulosis with only a solitary
Ou Jia Emilie Wang, Alennie Lopez, Nathan Teegee, Richard I. Crawford, Joseph M. Lam   +4 more
wiley   +1 more source

A case of coexistence of Marfan and Ehlers-Danlos syndromes in a 15-year-old boy

, 2014
Marfan syndrome (MS) and Ehlers-Danlos syndrome (EDS) are examples of two rare genetic diseases characterized by disturbances in the structure of collagen.
Agnieszka Gazda, Zbigniew Swacha, Lidia Rutkowska-Sak   +2 more
core   +1 more source

Menstrual suppression to decrease intrauterine device expulsion in adolescents with inherited bleeding disorders

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 421-423, April 2025.
Peter H. Cygan, Kelly M. Kons, Megan H. Fiorillo, Tonya S. Wright   +3 more
wiley   +1 more source

Cardiovascular, autonomic symptoms and quality of life in children with hypermobile Ehlers–Danlos syndrome

SAGE Open Medicine
Objectives: Hypermobile Ehlers–Danlos syndrome is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations. Cardiovascular, autonomic symptoms and dysautonomia are frequently reported in adults with hypermobile ...
Amanda K Hertel, William R Black, Ashley Lytch, Emily Cramer, Lindsey Malloy Walton, Jordan T Jones   +5 more
doaj   +1 more source