Results 51 to 60 of about 4,843 (250)

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

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

The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome [PDF]

, 2015
Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor
Brena, Michela, Burger, Bettina, De Mesmaeker, Julie, Fischer, Judith, Itin, Peter H., Schlipf, Nina, Spoerri, Iris, Tadini, Gianluca   +7 more
core   +1 more source

Dowling-Degos Disease: Case Report and Review of the Literature [PDF]

, 2010
Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Baran, Wojciech, Batycka-Baran, Aleksandra, Burgdorf, Walter H. C., Hryncewicz-Gwozdz, Anita   +3 more
core   +1 more source

[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

Síndrome de Kindler: enfermedad rara [PDF]

, 2014
El síndrome de Kindler es una genodermatosis rara, caracterizada clínicamente por fragilidad cutánea, poiquilodermia y fotosensibilidad. Es una enfermedad de herencia autosómica recesiva, producida por mutaciones en el gen FERMT1.
Maglio, Silvana, Manzur, Graciela, Massimo, José A., Massimo, María Pía, Natale, Mónica, Suarez, Eduardo, Valinotto, Laura Elena   +6 more
core  

Fibroepithelioma of Pinkus: Solitary tumor or sign of a complex gastrointestinal syndrome [PDF]

, 2016
Fibroepithelioma of Pinkus (FEP), which is considered to be an uncommon variant of basal cell carcinoma, has been described in association with other systemic diseases. However, no specific studies are currently available on this subject.
LONGO, Caterina, MANDEL, Victor Desmond, PELLACANI, Giovanni, PONTI, Giovanni, TOMASI, Aldo   +4 more
core   +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

Örökletes és immunológiai bőrgyógyászati kórképek epidemiológiai és molekuláris genetikai vizsgálata = Epidemiological and molecular genetic study of the inherited and immunodermatological diseases [PDF]

, 2009
Örökletes bőrgyógyászati megbetegedések: A genetikai hátterű bőrgyógyászati betegségek között kiemelt jelentőségű az epidermolysis bullosa (EB) csoport.
Medvecz, Márta
core  

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source