Results 31 to 40 of about 2,763 (196)

Laminin 332 in junctional epidermolysis bullosa [PDF]

Cell Adhesion & Migration, 2013
Laminin 332 is an essential component of the dermal-epidermal junction, a highly specialized basement membrane zone that attaches the epidermis to the dermis and thereby provides skin integrity and resistance to external mechanical forces. Mutations in the LAMA3, LAMB3 and LAMC2 genes that encode the three constituent polypeptide chains, α3, β3 and γ2,
Kiritsi, Dimitra, Has, Cristina, Bruckner-Tuderman, Leena   +2 more
openaire   +3 more sources

Epidermolysis Bullosa—A Kindler Syndrome Case Report and Short Literature Review

Clinics and Practice, 2023
Introduction: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma.
Bogdan Ioan Stefanescu, Diana Sabina Radaschin, Geta Mitrea, Lucretia Anghel, Adrian Beznea, Georgiana Bianca Constantin, Alin Laurentiu Tatu   +6 more
doaj   +1 more source

Pyloric atresia-Three cases and review of literature

African Journal of Paediatric Surgery, 2014
Pyloric atresia (PA) is a rare congenital anomaly that constitutes approximately 1% of all intestinal atresias, and its incidence is approximately 1 in 100,000 live births. PA may occur as an isolated condition or associated with other abnormalities, the
Sandesh V Parelkar, Satish P Kapadnis, Beejal V Sanghvi, Prashant B Joshi, Dinesh Mundada, Shishira Shetty, Sanjay N Oak   +6 more
doaj   +1 more source

Epidemiology of Epidermolysis Bullosa in the Antipodes [PDF]

Archives of Dermatology, 2010
To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia.Observational study (cross-sectional and longitudinal).Australian private dermatology practice, inpatient ward, and outpatient clinic.Systematic case finding of patients with EB simplex, junctional EB (JEB)
Kho, Yong Chern, Rhodes, Lesley M., Robertson, Susan J., Su, John, Varigos, George, Robertson, Ian, Hogan, Peter, Orchard, David, Murrell, Dedee F.   +8 more
openaire   +5 more sources

LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa. [PDF]

Genes (Basel), 2020
In a highly inbred Australian Shepherd litter, three of the five puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life.
Kiener S, Laprais A, Mauldin EA, Jagannathan V, Olivry T, Leeb T.   +5 more
europepmc   +2 more sources

Nail involvement in patients with epidermolysis bullosa: A systematic review

Skin Health and Disease, 2023
Background Nail changes in patients with congenital epidermolysis bullosa (EB) are caused by abnormalities of the nail matrix and bed secondary to pathogenic alterations of the dermoepidermal junction.
Elena Pastrana‐Arellano, Diana Morales‐Olvera, María T. García‐Romero   +2 more
doaj   +1 more source

Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional

Actas Dermo-Sifiliográficas, 2021
Resumen: Antecedentes y objetivo: La epidermólisis bullosa (EB) es un grupo heterogéneo de trastornos hereditarios caracterizado por un aumento de la fragilidad mucocutánea.
R. Maseda Pedrero, L. Quintana Castanedo, I. Pérez Conde, M. Jiménez González, M.J. Escámez Toledano, R. de Lucas Laguna   +5 more
doaj   +1 more source

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia

Frontiers in Genetics, 2022
Epidermolysis bullosa (EB) is a rare heterogeneous genetic mechanobullous skin disorder that is characterized by increased skin fragility leading to blistering following minor trauma. EB may be inherited as an autosomal dominant or an autosomal recessive
Raghad Alharthi, Raghad Alharthi, Muhannad A. Alnahdi, Muhannad A. Alnahdi, Ahad Alharthi, Seba Almutairi, Seba Almutairi, Sultan Al-Khenaizan, Sultan Al-Khenaizan, Mohammed A. AlBalwi, Mohammed A. AlBalwi, Mohammed A. AlBalwi   +11 more
doaj   +1 more source

Recurrent urinary retention: An unusual presentation of laryngo-onycho-cutaneous syndrome

Indian Journal of Paediatric Dermatology, 2020
Laryngo-onycho-cutaneous (LOC) first described by Shabbir in 1986 in Muslim families from Punjab is a rare autosomal recessive disorder characterized by increased skin and mucous membrane fragility associated with exuberant granulation.
Aradhana Sood, Anuj Bhatnagar, Amit Aggarwal, Neerja Saraswat   +3 more
doaj   +1 more source

The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers

Orphanet Journal of Rare Diseases, 2020
Background Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.
Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund, Dedee F. Murrell   +10 more
doaj   +1 more source