Results 31 to 40 of about 305,683 (163)

Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways

Communications Biology
Netherton syndrome (NS) is a rare skin disease caused by loss-of-function mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) gene. Disease severity and the lack of efficacious treatments call for a better understanding of NS mechanisms ...
Evgeniya Petrova, Jesús María López-Gay, Matthias Fahrner, Florent Leturcq, Jean-Pierre de Villartay, Claire Barbieux, Patrick Gonschorek, Lam C. Tsoi, Johann E. Gudjonsson, Oliver Schilling, Alain Hovnanian   +10 more
doaj   +1 more source

Galli–Galli Disease: A Comprehensive Literature Review

Dermatopathology
Galli–Galli disease (GGD) is a rare genodermatosis that exhibits autosomal dominant inheritance with variable penetrance. GGD typically manifests with erythematous macules, papules, and reticulate hyperpigmentation in flexural areas.
Andrea Michelerio, Antonio Greco, Dario Tomasini, Carlo Tomasini   +3 more
doaj   +1 more source

Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family [PDF]

Jichu yixue yu linchuang
Objective To identify the pathogenic mutations in a family with piebaldism. Methods Clinical information and peripheral blood were collected from the patient with piebaldism and their parents.
ZHANG Rui, TAN Yan, MA Donglai, WANG Rongrong, ZHANG Xue
doaj   +1 more source

Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases

Acta Dermato-Venereologica, 2022
Nonsense mutations cause the premature termination of protein translation via premature termination codons (PTCs), leading to the synthesis of incomplete functional proteins and causing large numbers of genetic disorders.
Jiangfan Yu, Bingsi Tang, Xinglan He, Puyu Zou, Zhuotong Zeng, Rong Xiao   +5 more
doaj   +1 more source

In vitro and ex vivo immunomodulatory effects of human placental mesenchymal stem cells in hidradenitis suppurativa

Frontiers in Immunology
BackgroundHidradenitis suppurativa is a chronic inflammatory skin disease marked by immune dysregulation and elevated pro-inflammatory cytokines. While biologics like adalimumab target specific pathways, their limited efficacy highlights the need for ...
Vaiva Jariene, Vaiva Jariene, Paulius Valiukevicius, Paulius Valiukevicius, Ruta Insodaite, Ruta Insodaite, Ugne Janonyte, Romaldas Maciulaitis, Justinas Maciulaitis, Justinas Maciulaitis, Astra Vitkauskiene, Evelina Zemaite, Christos C. Zouboulis, Christos C. Zouboulis, Christos C. Zouboulis, Skaidra Valiukeviciene, Skaidra Valiukeviciene   +16 more
doaj   +1 more source

Cutaneous vasculitis in children: A nationwide epidemiological study in Spain [version 1; referees: 2 approved]

F1000Research, 2017
Background: Cutaneous vasculitis (CV) are a complex group of conditions in children, of which IgA vasculitis (IgAV) is the most common. The objectives of the current study are to describe the incidence of CV in Spain and to analyze the temporal trend in ...
Leyre Riancho-Zarrabeitia, Ana Santurtún   +1 more
doaj   +1 more source

The role of the skin microbiome in the development of alopecia areata

Journal of Education, Health and Sport, 2022
Human skin is a habitat to a variety of microbes that, along with their host genetic material, make up microbiome of the human skin. The composition of the microbiota in the gut and skin is influenced by many factors, such as life stage, nutrition ...
Kinga Brzuszkiewicz, Gracjan Rudziński, Kinga Pożarowska, Arkadiusz Grunwald, Małgorzata Satora, Klaudia Piwowar, Jakub Klas   +6 more
doaj   +1 more source

Enfermedades genéticas de la piel

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
Actualmente muchas de las enfermedades genéticas, del 85 – 90 %, se consideran enfermedades raras, por afectar un número reducido de individuos.
Yordania Velázquez Avila, Maritza Morales Solís   +1 more
doaj  

Minoxidil induced hypertrichosis in a 2 year-old child [v1; ref status: indexed, http://f1000r.es/1vw]

F1000Research, 2013
We report a case of a 2 year-old male patient who developed generalized hypertrichosis after 2 months of treatment with 5% minoxidil foam for alopecia areata.
Ingrid Herskovitz, Joshua Freedman, Antonella Tosti   +2 more
doaj   +1 more source

Pan-Genome and Comparative Genome Analyses of Propionibacterium acnes Reveal Its Genomic Diversity in the Healthy and Diseased Human Skin Microbiome

mBio, 2013
Propionibacterium acnes constitutes a major part of the skin microbiome and contributes to human health. However, it has also been implicated as a pathogenic factor in several diseases, including acne, one of the most common skin diseases. Its pathogenic
Shuta Tomida, Lin Nguyen, Bor-Han Chiu, Jared Liu, Erica Sodergren, George M. Weinstock, Huiying Li   +6 more
doaj   +1 more source