Results 81 to 90 of about 3,777 (193)

Molecular Markers Distinguishing Early‐Stage Mycosis Fungoides From Atopic Dermatitis Skin Lesions

Experimental Dermatology, Volume 35, Issue 4, April 2026.
ABSTRACT Mycosis fungoides (MF) is the most common type of primary cutaneous T‐cell lymphoma, a disease characterized by malignant T cells that home to the skin. In early stages, clinical presentation is often indistinguishable from benign chronic inflammatory skin diseases such as atopic dermatitis (AD), posing a challenge for proper diagnosis and ...
Brandon D. Ng, Conor Whelan, Natalia Alkon, Agata Kurowski, Constanze Jonak, Patrick M. Brunner   +5 more
wiley   +1 more source

Dystrophic Epidermolysis Bullosa

Journal of Nepal Medical Association, 2018
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1.
Randhir Sagar Yadav, Amar Jayswal, Shumneva Shrestha, Sanjay Kumar Gupta, Upama Paudel   +4 more
doaj   +1 more source

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

Acta Dermato-Venereologica, 2020
Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa was ...
Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal urRehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz   +14 more
doaj   +1 more source

Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features

, 1995
Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical ...
Kint, André, De Bie, Sylvia, Nuytinck, Lieve, Beele, Hilde, De Paepe, Anne, Naeyaert, Jean-Marie, Naeyaert, Jean Marie   +6 more
core   +1 more source

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene [PDF]

, 1997
Dystrophic epidermolysis bullosa (EBD) is a clinically heterogeneous skin disorder, characterized by abnormal anchoring fibrils (AF) and loss of dermal-epidermal adherence.
Winberg, J
core   +1 more source

Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.

PLoS ONE
Recessive dystrophic epidermolysis bullosa is a rare genodermatosis caused by a mutation of the Col7a1 gene. The Col7a1 gene codes for collagen type VII protein, a major component of anchoring fibrils.
William Stone, Chloe Strege, William Miller, Aron M Geurts, Michael Grzybowski, Megan Riddle, Christopher Lees, Cindy Eide, Douglas R Keene, Sara F Tufa, Davis Seelig, John McGrath, Jakub Tolar   +12 more
doaj   +1 more source

A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa [PDF]

Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of an inherited skin disorder. RDEB segregates both in an autosomal dominant as well as in an autosomal recessive pattern.
Naeem, M., Khaliq, S., Wali, A., Ayub, M., Hassan, N., Rehman, F.U., Khan, K., Basit, S., Xiong, X., Altmüller, J., Motameny, S., Uddin, S.A., Betz, R., Anwer, S.   +13 more
core   +1 more source

Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison. [PDF]

, 2009
Item does not contain fulltextDystrophic epidermolysis bullosa is a heritable skin disease in which blisters occur because of a defect in type VII collagen resulting from mutations in the COL7A1 gene that is composed of 118 exons.
Hofstra, R.M., Hettema, Wendy, Jonkman, M.F., Jonkman, Marcel F., Meijer, R., Hettema, W., van den Akker, Peter C., Scheffer, H., Scheffer, Hans, Meijer, Rowdy, Hofstra, Robert M. W., van den Akker, Peter C.; id_orcid, Akker, P.C. van den   +12 more
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Epidermólise bolhosa distrófica pruriginosa: relato de caso Epidermolysis bullosa pruriginosa: case report

Anais Brasileiros de Dermatologia, 2005
A epidermólise bolhosa distrófica pruriginosa é doença genética rara cujo padrão de herança ainda não está bem estabelecido na literatura. O defeito genético, que envolve a codificação do colágeno tipo VII, está localizado no braço curto do cromossomo 3,
Márcio José Silva de Souza, Carla Andréa Avelar Pires, Karine Keila de Sousa Vieira, Mario Fernando R. de Miranda, Deborah Aben-Athar Unger   +4 more
doaj   +1 more source

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source