Results 1 to 10 of about 2,720 (173)

A Rare Genodermatosis: Lipoid Proteinosis

Cerrahpaşa Medical Journal, 2021
Lipoid proteinosis is a rare genodermatosis that manifests with hoarseness and cutaneous findings. Its skin manifestations start with vesicles during the neonatal period, later scar formation and lichenification are observed.
Defne Özkoca, Batuhan Tozakoğlu, Tuğba Kevser Uzunçakmak, Zekayi Kutlubay   +3 more
doaj   +3 more sources

The role of dupilumab in skin microbiome shifts in the Netherton genodermatosis: a case report and review of literature [PDF]

Frontiers in Medicine
Skin dysbiosis plays a crucial role in inflammatory skin diseases, particularly in genodermatoses such as Netherton syndrome (NS). This case report aimed to investigate changes in the skin microbiome of a patient with Netherton syndrome before and during
Elena Campione, Anna Simonelli, Enrico Salvatore Pistoia, Terenzio Cosio, Fabio Artosi, Laura Diluvio, Luca Bianchi, Roberta Gaziano, Roberta Gaziano   +8 more
doaj   +2 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

Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway

Journal of Biomedical Science, 2021
Fibrosis can be defined as an excessive and deregulated deposition of extracellular matrix proteins, causing loss of physiological architecture and dysfunction of different tissues and organs.
Angelo Giuseppe Condorelli, May El Hachem, Giovanna Zambruno, Alexander Nystrom, Eleonora Candi, Daniele Castiglia   +5 more
doaj   +1 more source

ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges

Acta Dermato-Venereologica, 2022
is missing (Short communication)
Girolamo Mattioli, Andrea Diociaiuti, Sabrina Rossi, Giovanna Zambruno, Marcello Carlucci, Elisa Pisaneschi, May El Hachem   +6 more
doaj   +1 more source

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

Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management

Diagnostics, 2022
Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation ...
Chaolan Pan, Anqi Zhao, Ming Li
doaj   +1 more source