Results 41 to 50 of about 4,685 (212)

miR-129-1-3p down-regulation promotes BAG cochaperone 3 (BAG3)-driven pro-fibrotic processes in primary fibroblasts from patients with recessive dystrophic epidermolysis bullosa

Non-coding RNA Research
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe skin fragility disease due to loss-of-function mutations in the COL7A1 gene.
Rebecca Nobili, Cristina Barbagallo, Marco Ragusa, Jasmine Genovese, Valentina D'Agostino, Andrea Diociaiuti, Daniele Castiglia, Teresa Odorisio, Giovanna Zambruno, May El Hachem, Angelo Giuseppe Condorelli   +10 more
doaj   +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

Darier disease: A rare genodermatosis

Journal of Oral and Maxillofacial Pathology, 2017
Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2.
Suryawanshi, Hema, Dhobley, Akshay, Sharma, Aparna, Kumar, Pramod   +3 more
openaire   +3 more sources

Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in DST gene: first Italian case and literature review

Dermatology Reports
Epidermolysis bullosa simplex (EBS), the most common type of EB, is characterized by skin fragility and blister formation within the basal epidermal layer. Most cases are due to autosomal dominant mutations in the keratin genes, KRT5 and KRT14. However,
Andrea Diociaiuti, Ruggiero Davide Zingarelli, Dario Francesco D'Urso, Giovanna Zambruno, May El Hachem   +4 more
doaj   +1 more source

Observations on Four Cases of Brooke–Spiegler Syndrome

Reports, 2020
Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly:
Mihaela Leventer, Casandra Coltoiu, Alexandra Zota, Tiberiu Tebeica, Carmen Lisievici, Alina Martinescu   +5 more
doaj   +1 more source

Zinsser-Cole-Engmann syndrome: a rare case report with literature review [PDF]

, 2014
Zinsser-Cole-Engmann syndrome, more commonly known as Dyskeratosis Congenita, is a heritable genodermato - sis having an estimated incidence of 1 in 1 million people. It is important for an oral physician to be aware of this condition as oral leukoplakia
Chalkoo, Altaf Hussain, Kaul, Vibhuti, Wani, Lateef Ahmad   +2 more
core   +1 more source

Case for diagnosis [PDF]

, 2011
O termo úlcera de Marjolin é usado para designar a transformação maligna que se origina na pele cronicamente lesada. Trata-se de neoplasia mais agressiva do que aquelas não relacionadas com cicatriz e, frequentemente, é subdiagnosticada ou tratada de ...
ALMEIDA, José Roberto Paes de, DINATO, Marcelo Mattos e, DINATO, Sandra Lopes Mattos e, NÓVOA, Estela Gemha de, ROMITI, Ney   +4 more
core   +3 more sources

A Rare Genodermatosis: Lipoid Proteinosis

Cerrahpaşa Medical Journal, 2021
Lipoid proteinosis is a rare genodermatosis that manifests with hoarseness and cutaneous findings. Its skin manifestations start with vesicles during the neonatal period, later scar formation and lichenification are observed. Beaded papules on the eyelids, which is referred to as “moniliform bleapharosis” is a typical finding.
Tozakoğlu, Batuhan, Kutlubay, Zekayi, Özkoca, Defne, Uzunçakmak, Tuğba Kevser   +3 more
openaire   +2 more sources

[Piebaldisme: a rare genodermatosis].

The Pan African medical journal, 2017
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution.
Fatima Zahra, Debbarh, Fatima Zahra, Mernissi   +1 more
openaire   +2 more sources

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source