Results 21 to 30 of about 2,720 (173)

Lipoid proteinosis: A rare congenital genodermatosis

Journal of Dr. NTR University of Health Sciences, 2017
Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the ...
Mitali Madhumita Rath, Pranita Mohanty
doaj   +1 more source

Reconsidering Efficacy and Safety: A Critical Appraisal of Repurposing Anti-inflammatory Targeted Drugs in Darier disease [PDF]

Acta Dermato-Venereologica
Estelle Burle, Juliette Mazereeuw-Hautier, Maella Severino-Freire   +2 more
doaj   +2 more sources

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

Darier disease: A rare genodermatosis

Journal of Oral and Maxillofacial Pathology, 2017
Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2.
Suryawanshi, Hema, Dhobley, Akshay, Sharma, Aparna, Kumar, Pramod   +3 more
openaire   +3 more sources

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

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

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

Effect of Anti‐IL‐23 and Anti‐IL‐17 Therapy on Darier Disease: A Case Series

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Darier disease is a rare ATP2A2‐related genodermatosis for which therapeutic options remain limited, as acitretin is often constrained by toxicity and teratogenicity. In this retrospective real‐world case series of eight patients, anti‐IL‐17 therapy showed a more consistent early signal of clinical benefit than anti‐IL‐23 therapy, with greater
Maione Vincenzo, Zanghi Silvia, Catapano Cecilia, Bighetti Stefano, Cattaneo Isacco, Venturini Marina, Bettolini Luca   +6 more
wiley   +1 more source