Results 81 to 90 of about 25,211 (207)

Update on Approved Therapies for Dystrophic and Junctional Epidermolysis Bullosa

Pediatric Dermatology, Volume 43, Issue S2, Page 20-28, August 2026.
ABSTRACT Dystrophic epidermolysis bullosa (DEB) and junctional EB (JEB) are severe, bullous genodermatoses induced by mutations of genes encoding structural skin proteins that disrupt epidermal adhesion. Until recently, treatment was limited to symptomatic care. Since 2022, three therapies – birch triterpenes gel (Filsuvez), beremagene geperpavec‐svdt (
Alberto Pappalardo, Edward Eid, Rebecca C. Olsen, Savannah E. Bush, Lawrence F. Eichenfield, Maria Gnarra Buethe   +5 more
wiley   +1 more source

Role of Oral Lesions in Diagnosing Generalised Recessive Dystrophic Epidermolysis Bullosa- A Rare Case Report [PDF]

, 2015
Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, vesiculo-bullous disorders char­acterized by blister formation in response to mechanical trauma.
Ramchandani, Amit D., Singh, Aarti, Nayyar, Abhishek Singh   +2 more
core   +1 more source

Neonatal epidermolysis bullosa with dystrophic nails

BMJ Case Reports, 2009
Epidermolysis bullosa (EB) is a rare blistering disease that may manifest in the neonatal period. Diagnosis is based on clinical symptomatology, histopathology, electron microscopy and genetic studies.1 However, in a resource limited setting, the diagnosis is mainly clinical. Age of onset, symptomatology and prognosis of the various subtypes are varied.
Ketan, Kulkarni, Satvinder, Kaur
openaire   +3 more sources

Epidermolysis bullosa in practice of dermatologist [PDF]

Саратовский научно-медицинский журнал, 2014
This article describes a clinical case of a rare dermatosis — congenital dystrophic epidermolysis bullosa in a 9-year old child.
Shustova О.А., Bobko N.К.
doaj  

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

The Application of Clinical Genetics, 2021
Sang Trieutien,1,* Tam Vu Van,2,3,* My Tran Ngoc Thao,4 Son Trinh The,5 Khoa Tran Van,1 Tung Nguyen Thanh,5 Tuan Tran Van,5 Hanh Nguyen Thi6 1Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam ...
Trieutien S, Vu Van T, Tran Ngoc Thao M, Trinh The S, Tran Van K, Nguyen Thanh T, Tran Van T, Nguyen Thi H   +7 more
doaj  

Dystrophic Epidermolysis Bullosa [PDF]

Journal of Perinatology, 2003
Bibhuti B, Das, Sunati, Sahoo
openaire   +2 more sources

Recessive dystrophic epidermolysis bullosa. [PDF]

Anaesthesia, 1983
Summary A case report is presented of a patient with recessive dystrophic epidermolysis bullosa requiring anaesthesia for thoraco‐abdominal surgery. The classification and pathology of epidermolysis bullosa is considered together with the clinical features and treatment.
openaire   +2 more sources

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature

BMC Pediatrics
Epidermolysis Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB.
Fatma Mabrouk Ali, Jieyu Zhou, Mingyan Wang, Qiuxia Wang, Lulu Sun, Mansour Maulid Mshenga, Hongyan Lu   +6 more
doaj   +1 more source

Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa.

, 1988
Type VII collagen, the major structural component of the anchoring fibrils, was assayed in normal unaffected skin of patients with different forms of hereditary epidermolysis bullosa.
Schnyder UW, Mitsuhashi Y, Bruckner-Tuderman L, Odermatt B, Rüegger S   +4 more
core   +1 more source

Squamous Cell Carcinoma in Epidermolysis bullosa (dystrophic)

, 2022
Epidermolysis bullosa are heterogeneous group of rare diseases characterized by exacerbated skin and mucosal fragility and blister formation after minor trauma.
Irfan Ahmed Sheikh, Kaiser Jatoi, Naeem Ahmed   +2 more
core   +1 more source