Results 31 to 40 of about 5,681 (198)

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

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

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

Epidermodysplasia verruciformis: a rare genodermatosis with risk of malignant transformation

Journal of Pakistan Association of Dermatologists, 2017
Epidermodysplasia verruciformis is a rare, lifelong, autosomal recessive hereditary disorder affecting the skin and is characterized by chronic infection with human papillomavirus.
A. Bari, R. Yasmin, Afaq Ahmed
semanticscholar   +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

Incontinentia pigmenti: a rare genodermatosis in a male child.

Journal of clinical and diagnostic research : JCDR, 2015
Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero.
D. K. N. Swamy, A. Arunagirinathan, R. Krishnakumar, Sivaraman Sangili   +3 more
semanticscholar   +1 more source

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

Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis

Anais Brasileiros de Dermatologia, 2014
Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented ...
G. Marques, C. Tonello, J. M. P. Sousa
semanticscholar   +1 more source