Results 41 to 50 of about 3,504 (191)

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

A new family with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer

, 2003
We describe a new family with the rare genodermatosis keratosis punctata palmo-plantaris Buschke-Fischer-Brauer (keratoma disseminatum). in all, 3 family members in 3 generations were affected, a pattern consistent with autosomal dominant inheritance ...
Neumann, C., Emmert, Steffen, Hanssle, H., Hallermann, Christian, Kuster, W. K., Kretschmer, Lutz, Zutt, Markus   +6 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

Effect of Anti‐IL‐23 and Anti‐IL‐17 Therapy on Darier Disease: A Case Series

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Darier disease is a rare ATP2A2‐related genodermatosis for which therapeutic options remain limited, as acitretin is often constrained by toxicity and teratogenicity. In this retrospective real‐world case series of eight patients, anti‐IL‐17 therapy showed a more consistent early signal of clinical benefit than anti‐IL‐23 therapy, with greater
Maione Vincenzo, Zanghi Silvia, Catapano Cecilia, Bighetti Stefano, Cattaneo Isacco, Venturini Marina, Bettolini Luca   +6 more
wiley   +1 more source

Dowling-Degos disease: a case report and clinicopathological correlation of a rare genodermatosis [PDF]

Dowling-Degos disease (DDD), also termed reticulate pigmented anomaly of the flexure, is a rare genodermatosis characterized by reticulate pigment macules, typically appearing after puberty.
Wan Ahmad Kammal, Wan Syahira Ellani, Lai, Shau Kong, Mohd Nasir, Noor 'ain, Abu, Nasiha, Tak, Nor Akmar, Tan, Yi Jun   +5 more
core   +1 more source

Incontinencia Pigmenti: una genodermatosis de comienzo en la infancia

, 2021
Introduction: incontinentia pigmenti is a dominant inheritance genodermatosis, with an approximate incidence of 1 per 50 000 live births, with 27.6 new cases per year.Objective: to describe the main clinical and histopathological characteristics of ...
Espin Guerra, Leydiani, Navarro Baldellot, Ana Laura, Pena Olivera, Roine Alberto   +2 more
core   +1 more source

47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer

, 2003
We summarize the clinical data of 47 patients with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. The pedigrees of 14 German families were studied.
Emmert, S., Neumann, C., Haenssle, H., Kretschmer, L., Kuester, W., Zutt, M., Hennies, H.C.   +6 more
core   +2 more sources

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, EarlyView.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese, Anna Calamita, Diletta D'Angelo, Alessia Marseglia, Esther Mesa Lombardero, Sara Pedersoli, Micol Tedeschi, Mara De Amici, Sara Manti, Valeria Brazzelli, Amelia Licari, Gian Luigi Marseglia   +11 more
wiley   +1 more source

Reed’s Syndrome: A Rare Systemic Genodermatosis

Gazeta Médica, 2023
Reed’s syndrome is an autosomal dominant rare genodermatosis, characterized by the presence of multiple cutaneous and uterine leiomyomatosis. This syndrome can be associated with renal cell carcinoma and leiomyosarcoma.
Madalena Braga, Leonor Ferreira da Silva, Nuno Mendanha Pereira, Gustavo Fernandes, Miguel Magalhães   +4 more
doaj  

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source