Results 101 to 110 of about 4,843 (250)

Late-Onset Multiple Self-Healing Squamous Epithelioma Ferguson-Smith Recurrence Induced by Radiotherapy. [PDF]

, 2016
We report the case of a woman in her 60s with confirmed multiple self-healing squamous epitheliomas (MSSE) Ferguson-Smith. After recurrences following surgery and radiotherapy, the patient was successfully treated with minimal surgical intervention ...
Feldmeyer, L., Hohl, D., Lane, E.B., Mandallaz, M., Szeverényi, I.   +4 more
core   +3 more sources

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

Angiosarcoma of the scalp associated with Xeroderma pigmentosum

Indian Journal of Medical and Paediatric Oncology, 2012
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet light due to defects in Deoxyribonucleic acid (DNA) repair.
Shilpi Sharma, Anuja D Deshmukh, Munita M Bal, Devendra A Chaukar, Anil K Dcruz   +4 more
doaj   +1 more source

Leiomiomatose Cutânea em Mãe e Filha [PDF]

, 2013
A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother.
Cabete, J, Fidalgo, A, Gonçalves, R, João, A, Lencastre, A   +4 more
core  

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

Parotid oncocytoma in Birt-Hogg-Dube syndrome: a new pitfall in 18F-fluorodeoxyglucose positron emission tomography/computed tomography imaging study [PDF]

, 2016
Oncocytomas are rare head and neck neoplasms that occur most commonly in the parotid salivary gland. Birt-Hogg-Dube syndrome is a rare inherited genodermatosis manifested by a group of cutaneous lesions, in association with several renal and lung ...
Ahmad Saad, Fathinul Fikri, Mohtarrudin, Norhafizah, Nordin, Abdul Jalil, Subha, Sethu Thakachy   +3 more
core  

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

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

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  

[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