Results 31 to 40 of about 2,708 (203)

Type I Segmental Darier’s Disease: Successful Treatment with Oral Acitretin- A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2023
Unilateral type I segmental Darier’s Disease (DD) is a rare variant of DD. It is characterised by eruptions which are erythematous and keratotic papules.
Shanmugam Reddy Praveen Kumar, MY Suparna, Varsha Ramani, Tharayil Kunneth Sumathy   +3 more
doaj   +1 more source

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene. [PDF]

Pediatr Dermatol
ABSTRACT We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.
Sánchez-Espino LF, Ivars M, Vicente-López A, Prat-Torres C, Armstrong-Morón J, Baselga E.   +5 more
europepmc   +2 more sources

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

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

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Life, 2021
Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma.
Pálma Anker, Norbert Kiss, István Kocsis, Éva Czemmel, Krisztina Becker, Sára Zakariás, Dóra Plázár, Klára Farkas, Balázs Mayer, Nikoletta Nagy, Márta Széll, Nándor Ács, Zsuzsanna Szalai, Márta Medvecz   +13 more
doaj   +1 more source

Erythrokeratoderma variabilis in two cases with localized and generalized lesions [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2020
Erythrokeratoderma variabilis is an autosomal dominant genodermatosis characterized by fixed, brownish hyperkeratotic plaques and migratuar erythematous patches.
Hülya Nazik, Mehmet Enes Güner, Perihan Öztürk, Mehmet Kamil Mülayim, Mine Müjde Kuş   +4 more
doaj   +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

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

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