Results 1 to 10 of about 3,504 (191)

Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum? [PDF]

Acta Dermato-Venereologica
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) or with migratory circinate erythema (EBS-MCE) are rare clinical subtypes, typically associated with KRT5 pathogenic variants. A clinical and molecular analysis was conducted on 49 patients
Laura E. Valinotto, Mónica Natale, Silvina B. Lusso, Luz Velazquez Perdomo, Agustín Izquierdo, Romina Andrada, Eliana Cella, Juana Goitia, Maria del Carmen Boente, Maria I. Prado, Silvina de Freijo, Graciela Manzur   +11 more
doaj   +2 more sources

Unraveling Dowling–Degos Disease: A Rare Skin Disorder [PDF]

Clinical Case Reports
Dowling–Degos disease (DDD) is a rare genodermatosis characterized by brown to black macules distributed symmetrically in the axilla, groin, elbow, face, neck, and trunk. It is more common in women, usually after puberty. The main pathogenesis behind DDD
Mahesh Mathur, Neha Thakur, Supriya Paudel, Sambidha Karki, Sandhya Regmi, Nabita Bhattarai   +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

Hailey‐Hailey Disease: An Updated Review With a Focus on Therapeutic Mechanisms [PDF]

Health Science Reports
Background Hailey‐Hailey disease (HHD), or familial benign chronic pemphigus, is a rare autosomal dominant genodermatosis characterized by chronic, painful, erythematous, erosive plaques and fissures at sites of friction such as the neck, axilla, groin ...
Mahesh Mathur, Sumit Paudel, Nabita Bhattarai, Sambidha Karki, Sandhya Regmi   +4 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

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