Results 31 to 40 of about 4,843 (250)

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

The H Syndrome: A Genodermatosis [PDF]

Cureus, 2018
H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/
Bhatti, Sohaib, Jamil, Asma, Siddiqui, Samrah Hasan, Yaqoob, Uzair, Virk, Luqman Naseer, Bhatti, Areesh   +5 more
openaire   +2 more sources

Muir-Torre syndrome - Treatment with isotretinoin and interferon alpha-2a can prevent tumour development [PDF]

, 2000
Muir-Torre syndrome is a genodermatosis in which multiple internal malignancies are associated with cutaneous sebaceous tumours and kerato-acanthomas. A 57-year-old man presented with multiple sebaceous tumours, kerato-acanthomas, verrucous carcinoma of ...
Burgdorf, Walter H. C., Graefe, Tim, Schulz, Hans-Joachim, Wollina, Uwe   +3 more
core   +1 more source

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

Cowden syndrome - Diagnostic skin signs [PDF]

, 2001
Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C., Hildenbrand, C., Lautenschlager, Stephan   +2 more
core   +1 more source

Dyschromatosis universalis hereditaria: Dermoscopic insights in a patient with intellectual disability [PDF]

JAAD Case Reports
Zaida Elizabeth Rosales Martínez, MD, Dr, Jessica Yamileth Reyes Cueva, MD, Dr, Alexandra María Maza de Franco, MD, Dr, Silvia Anett Mejía Rodríguez, MD, Dr   +3 more
doaj   +2 more sources