Results 31 to 40 of about 3,504 (191)

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

Rapid and long-lasting remission of refractory Hailey-Hailey disease by IL-13 inhibition with tralokinumab. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 6, Page 818-820, June 2026.
Brandt O, Huber SM, Mueller SM.
europepmc   +2 more sources

Incontinentia pigmenti: genodermatosis multisistémica [PDF]

Boletín Médico del Hospital Infantil de México, 2020
Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells ...
Adrián Martínez-Gayosso, María T. García-Romero   +1 more
openaire   +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

Comportamiento de las genodermatosis en el municipio de San Juan y Martínez [PDF]

, 2020
Introduction: genetic diseases and congenital defects constitute the second cause of death only in the child of one year; these diseases can be of chromosomal, multifactorial and monogenetic origin.
Hernandez Fernandez, Anabel, Rojas Concepcion, Adrian Alejandro, Sanchez Alvarez, Ana Isabel, Arencibia Sanchez, José Jesús, Rodríguez Fernandez, Darianna   +4 more
core  

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
Batycka-Baran, Aleksandra, Burgdorf, Walter H. C., Baran, Wojciech, Hryncewicz-Gwozdz, Anita   +3 more
core   +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

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

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