Results 11 to 20 of about 4,685 (212)

Applicability of Novel Laser Scanning Microscopy Techniques in Demonstrating Characteristic Features of Porokeratosis: In Vivo and Ex Vivo Investigation

JEADV Clinical Practice
Background Porokeratoses represent a group of keratinization disorders characterized histopathologically by the presence of a cornoid lamella. The recognition of porokeratosis as a genodermatosis, along with its association with increased risk of skin ...
Rahime Inci, Noora Neittaanmäki, Jeemol James, Marica B. Ericson, Sirkku Peltonen, Despoina Kantere   +5 more
doaj   +2 more sources

Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant [PDF]

Acta Dermato-Venereologica
Andrea Diociaiuti, Emanuele Bellacchio, Claudia Cesario, Sabrina Rossi, Giovanna Zambruno, May El Hachem   +5 more
doaj   +2 more sources

Molecular Changes Induced by Carbon Dioxide Laser in Hailey-Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy. [PDF]

Int J Dermatol
ABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Antoñanzas J, España A, Gorostidi A, Patiño-García A, Araúzo-Bravo MJ, Gerovska D, Salido-Vallejo R, Aguado-Gil L.   +7 more
europepmc   +2 more sources

¿Qué genodermatosis es?

Actas Dermo-sifiliográficas, 2015
R. Santesteban Muruzábal, M. Hervella Garcés, C. Ros Martín   +2 more
exaly   +2 more sources

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images. [PDF]

Clin Case Rep
ABSTRACT Early recognition of Netherton syndrome in children can be prompted by dermoscopic detection of trichorrhexis invaginata (“bamboo hair”) together with ichthyosis linearis circumflexa. Dermoscopy of eyebrow hairs is a simple, noninvasive clue that expedites diagnosis, counseling, and supportive care while genetic testing is pursued.
Nagshabandi KN, Alsalhi A.
europepmc   +2 more sources

Can You Identify the Genodermatosis?

Actas Dermo-sifiliográficas, 2015
R, Santesteban Muruzábal, M, Hervella Garcés, C, Ros Martín   +2 more
exaly   +3 more sources

Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center

Frontiers in Pediatrics, 2021
Airway infantile hemangiomas (IHs) can represent a life-threatening condition since the first months of life. They may be isolated or associated to cutaneous IHs, and/or part of PHACES syndrome.
Marialuisa Corbeddu, Duino Meucci, Andrea Diociaiuti, Simona Giancristoforo, Roberta Rotunno, Michaela Veronika Gonfiantini, Marilena Trozzi, Sergio Bottero, May El Hachem   +8 more
doaj   +1 more source

A multicenter study on quality of life of the “greater patient” in congenital ichthyoses

Orphanet Journal of Rare Diseases, 2021
Background Autosomal recessive congenital ichthyoses (ARCI) are a genetically heterogeneous group of rare and chronic disorders characterized by generalized skin scaling and hyperkeratosis, erythroderma, and palmoplantar keratoderma.
Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Carmelo Schepis, Iria Neri, Daniele Castiglia, Giovanna Zambruno, May El Hachem   +9 more
doaj   +1 more source

A clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 gene [PDF]

Alʹmanah Kliničeskoj Mediciny, 2021
Enteropathic acrodermatitis is a rare form of genodermatoses, a group of hereditary disorders with prevailing skin lesions. The disease manifestation in children is associated with withdrawal of breastfeeding and switch to the cow milk-based products ...
Antonina S. Stadnikova, Olga B. Tamrazova, Irina N. Zakharova, Yulia A. Dmitrieva, Alexey V. Taganov, Anastasiya E. Yudina, Gayane E. Bagramova   +6 more
doaj   +1 more source

Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center

Italian Journal of Pediatrics, 2022
Background Epidermolysis bullosa (EB) is a disabling and chronic genodermatosis characterized by mucocutaneous fragility with blister formation after minimal trauma.
Chiara Retrosi, Andrea Diociaiuti, Cristiana De Ranieri, Marialuisa Corbeddu, Claudia Carnevale, Simona Giancristoforo, Maria Rosaria Marchili, Guglielmo Salvatori, Marta Luisa Ciofi degli Atti, May El Hachem, Massimiliano Raponi   +10 more
doaj   +1 more source