Results 71 to 80 of about 2,708 (203)

Hypermobility in patients with epidermolysis bullosa—A retrospective observational study from a national referral center

JEADV Clinical Practice
Background Epidermolysis bullosa (EB) is an inherited genodermatosis of variable severity characterised by skin and mucosal fragility commonly associated with altered gait patterns and hypermobility.
Maria L. Bageta, Michelle Wood, Pablo Lopez Balboa, Gabriela Petrof, Anna E. Martinez   +4 more
doaj   +1 more source

Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families

Frontiers in Medicine
ObjectiveEpidermolysis bullosa simplex (EBS) is a common, well-characterized type of epidermolysis bullosa. However, some rare syndromic EBS phenotypes are not well described.
Yulia Y. Kotalevskaya, Yulia Y. Kotalevskaya, Vadim A. Stepanov   +2 more
doaj   +1 more source

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis [PDF]

, 2010
Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramón M. Pujol, Maurice A. M. Van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, Anders Vahlquist, Niklas Dahl   +13 more
openalex   +3 more sources

Mal de Meleda: A Report of Two Cases In One Family [PDF]

Medicinski Glasnik, 2006
Mal de Meleda is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma, lichenoid skin lesions, perioral erythema, brachydactyly and nail abnormalities.
M.Kantor, E. Kasumagić-Halilović, A. Prohić   +2 more
doaj  

Incontientia Pigmenti: a genodermatosis beginning in childhood

Revista Científica Estudiantil 2 de Diciembre, 2021
Introduction: incontinentia pigmenti is a dominant inheritance genodermatosis, with an approximate incidence of 1 per 50 000 live births, with 27.6 new cases per year.
Roine Alberto Pena Olivera, Leydiani Espin Guerra, Ana Laura Navarro Baldellot   +2 more
doaj  

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2 [PDF]

, 2001
Laura S. Schmidt, Michelle B. Warren, Michael L. Nickerson, Gregor Weirich, Vera Y. Matrosova, Jorge R. Toro, Maria L. Turner, Paul H. Duray, Maria J. Merino, Stephen M. Hewitt, Christian P. Pavlovich, G.M. Glenn, Cheryl R. Greenberg, W. Marston Linehan, Berton Zbar   +14 more
openalex   +1 more source

Xanthomatous nevus: A potential new entity

JAAD Case Reports, 2021
Marialuisa Corbeddu, MD, May El Hachem, MD, Alessandra Stracuzzi, MD, Claudia Carnevale, MD, Rita Alaggio, MD, Andrea Diociaiuti, MD   +5 more
doaj   +1 more source

[Lamellar ichthyosis, uncommon genodermatosis].

Ginekologia polska, 1994
Authors have performed the main types of the ichthyosis, the emphasis has been placed on Lamellar Ichthyosis, because the case of this rare disease occurred in a hospital in Pleszew. The paper contains the case report and detailed description of Lamellar Ichthyosis: clinical signs, prenatal diagnosis and treatment.
J, Rataj, M, Kornacka, A, Mościcka
openaire   +1 more source

Urbach-Wiethe syndrome: report of two clinical cases

Dermatology Reports
Urbach-Wiethe syndrome, also known as lipoid proteinosis (LP), is a rare genodermatosis clinically characterized by mucocutaneous lesions, dysphonia with onset in early childhood, and, sometimes, neurological complications.
Ilaria Demofonte, Emanuele Miraglia, Giovanni Pellacani, Sandra Giustini   +3 more
doaj   +1 more source

A RARE GENODERMATOSIS IN A PATIENT WITH NEUROPSYCHIATRIC DISORDER

, 2023
M. Hemalatha, R. Sai Lahari, A. Vijaya Mohan Rao, Adel Shabana, Uday Kiran Raja   +4 more
openalex   +2 more sources