Results 21 to 30 of about 5,681 (198)

Reconsidering Efficacy and Safety: A Critical Appraisal of Repurposing Anti-inflammatory Targeted Drugs in Darier disease [PDF]

Acta Dermato-Venereologica
Estelle Burle, Juliette Mazereeuw-Hautier, Maella Severino-Freire   +2 more
doaj   +2 more sources

Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center

Italian Journal of Pediatrics, 2022
Background Epidermolysis bullosa (EB) is a disabling and chronic genodermatosis characterized by mucocutaneous fragility with blister formation after minimal trauma.
Chiara Retrosi, Andrea Diociaiuti, Cristiana De Ranieri, Marialuisa Corbeddu, Claudia Carnevale, Simona Giancristoforo, Maria Rosaria Marchili, Guglielmo Salvatori, Marta Luisa Ciofi degli Atti, May El Hachem, Massimiliano Raponi   +10 more
doaj   +1 more source

Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway

Journal of Biomedical Science, 2021
Fibrosis can be defined as an excessive and deregulated deposition of extracellular matrix proteins, causing loss of physiological architecture and dysfunction of different tissues and organs.
Angelo Giuseppe Condorelli, May El Hachem, Giovanna Zambruno, Alexander Nystrom, Eleonora Candi, Daniele Castiglia   +5 more
doaj   +1 more source

ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges

Acta Dermato-Venereologica, 2022
is missing (Short communication)
Girolamo Mattioli, Andrea Diociaiuti, Sabrina Rossi, Giovanna Zambruno, Marcello Carlucci, Elisa Pisaneschi, May El Hachem   +6 more
doaj   +1 more source

Type I Segmental Darier’s Disease: Successful Treatment with Oral Acitretin- A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2023
Unilateral type I segmental Darier’s Disease (DD) is a rare variant of DD. It is characterised by eruptions which are erythematous and keratotic papules.
Shanmugam Reddy Praveen Kumar, MY Suparna, Varsha Ramani, Tharayil Kunneth Sumathy   +3 more
doaj   +1 more source

Molecular Changes Induced by Carbon Dioxide Laser in Hailey-Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy. [PDF]

Int J Dermatol
ABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Antoñanzas J, España A, Gorostidi A, Patiño-García A, Araúzo-Bravo MJ, Gerovska D, Salido-Vallejo R, Aguado-Gil L.   +7 more
europepmc   +2 more sources

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Life, 2021
Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma.
Pálma Anker, Norbert Kiss, István Kocsis, Éva Czemmel, Krisztina Becker, Sára Zakariás, Dóra Plázár, Klára Farkas, Balázs Mayer, Nikoletta Nagy, Márta Széll, Nándor Ács, Zsuzsanna Szalai, Márta Medvecz   +13 more
doaj   +1 more source

Erythrokeratoderma variabilis in two cases with localized and generalized lesions [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2020
Erythrokeratoderma variabilis is an autosomal dominant genodermatosis characterized by fixed, brownish hyperkeratotic plaques and migratuar erythematous patches.
Hülya Nazik, Mehmet Enes Güner, Perihan Öztürk, Mehmet Kamil Mülayim, Mine Müjde Kuş   +4 more
doaj   +1 more source

Ictiosis arlequín, una genodermatosis devastadora

Repertorio de Medicina y Cirugía, 2018
La ictiosis arlequín es la forma más grave y agresiva de las ictiosis congénitas. Es una rara entidad hereditaria, de patrón autosómico recesivo y su pronóstico es fatal en la mayoría de los casos; los neonatos por lo general mueren en los primeros días ...
Felisa B Carvajalino, Laura F Peña
doaj   +1 more source

Severe Hypernatremia as Presentation of Netherton Syndrome

Global Medical Genetics, 2023
Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies.
A. Di Nora, M.C. Consentino, G. Messina, T. Timpanaro, P. Smilari, P. Pavone   +5 more
doaj   +1 more source