Results 41 to 50 of about 4,843 (250)

Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G [PDF]

Frontiers in Medicine
Mónica Mora-Gómez, Mónica Mora-Gómez, Mónica Mora-Gómez, Marta Feito, Natalia Gallego-Zazo, Natalia Gallego-Zazo, Natalia Gallego-Zazo, Rocío Maseda-Pedrero, Tristán G. Sobral-Costas, Lucía Miranda-Alcaraz, Lucía Miranda-Alcaraz, Lucía Miranda-Alcaraz, Valeria Vásquez-Amell, Valeria Vásquez-Amell, Valeria Vásquez-Amell, Manuel Rodríguez-Canó, Manuel Rodríguez-Canó, Manuel Rodríguez-Canó, Alejandro Parra, Alejandro Parra, Alejandro Parra, Mario Cazalla, Mario Cazalla, Mario Cazalla, Pedro Arias, Pedro Arias, Pedro Arias, Cristina Silván, Cristina Silván, Cristina Silván, Juan A. Jiménez-Estrada, Juan A. Jiménez-Estrada, Juan A. Jiménez-Estrada, Víctor L. Ruiz-Pérez, Víctor L. Ruiz-Pérez, Víctor L. Ruiz-Pérez, Víctor L. Ruiz-Pérez, Julián Nevado, Julián Nevado, Julián Nevado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Jair Tenorio-Castano, Jair Tenorio-Castano, Jair Tenorio-Castano   +45 more
doaj   +2 more sources

Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome [PDF]

, 2003
Background: Cowden syndrome (CS) or multiple hamartoma syndrome is a cancer-associated genodermatosis inherited in an autosomal dominant pattern. One of the diagnostic criteria is facial papules which are felt to be trichilemmomas, benign hair follicle ...
Burgdorf, Walter H. C., Itin, Peter H., Lautenschlager, Stephan, Rohwedder, A., Schaller, Jörg   +4 more
core   +1 more source

Severe Hypernatremia as Presentation of Netherton Syndrome

Global Medical Genetics, 2023
Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies.
A. Di Nora, M.C. Consentino, G. Messina, T. Timpanaro, P. Smilari, P. Pavone   +5 more
doaj   +1 more source

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

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

Immune Disregulation in Cutaneous Squamous Cell Carcinoma of Patients with Recessive Dystrophic Epidermolysis Bullosa: A Single Pilot Study

Life, 2022
Background: Cutaneous squamous cell carcinoma (cSCC) is one of the most devastating complications of recessive dystrophic epidermolysis bullosa (RDEB).
Angela Filoni, Gerolamo Cicco, Gerardo Cazzato, Anna Bosco, Lucia Lospalluti, Marco Tucci, Antonietta Cimmino, Caterina Foti, Andrea Marzullo, Domenico Bonamonte   +9 more
doaj   +1 more source

A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View

Acta Dermato-Venereologica, 2022
is missing (Short communication)
Sanaz Amin Guldmann, Anna Byrjalsen, Saher Shaker, Jesper Elberling   +3 more
doaj   +1 more source

Reduced TLR3 and TLR9 Expression in Epidermodysplasia Verruciformis: Evidence From a Comparative Skin Study. [PDF]

J Med Virol
ABSTRACT Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by lifelong β‐human papillomavirus (β‐HPV) persistence, extensive flat warts, and increased risk of cutaneous squamous cell carcinoma. While TMC6, TMC8, and CIB1 mutations are recognized as genetic drivers, innate immune mechanisms contributing to HPV persistence ...
Fróes LAR, Pereira CCDA, Silva LLDC, Pereira NV, de Oliveira WRP, Sotto MN.   +5 more
europepmc   +2 more sources

Gorlin syndrome

Indian Journal of Dermatology, 2013
Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones.
Basanti Devi, Binodini Behera, Sibasish Patro, Subhransu S Pattnaik, Manas R Puhan   +4 more
doaj   +1 more source

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