Results 21 to 30 of about 4,685 (212)

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

Incontinentia pigmenti: genodermatosis multisistémica [PDF]

Boletín Médico del Hospital Infantil de México, 2020
Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells ...
Adrián Martínez-Gayosso, María T. García-Romero   +1 more
openaire   +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

Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature. [PDF]

Clin Case Rep
ABSTRACT Trichothiodystrophy (TTD) arises from pathogenic changes in several genes, most of which participate in DNA repair or transcriptional and translational processes. Atopic dermatitis may accompany TTD in a minority of cases. Dupilumab can offer a safe and effective treatment option for severe atopic dermatitis in this population.
O'Mahony J, O'Connor C.
europepmc   +2 more sources

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

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients. [PDF]

, 2019
BACKGROUND: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling ...
Castiglia, Daniele, Conti, Claudio J., Del Rio, Marcela, Escamez, Maria Jose, Guerrero-Aspizua, Sara, Has, Cristina, Itin, Peter, Martin, Ludovic, Requena, Luis, Tadini, Gianluca, Uitto, Jouni, Vahidnezhad, Hassan, Yordanova, Ivelina, Youssefian, Leila, Zambruno, Giovanna   +14 more
core   +3 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

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

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