Results 91 to 100 of about 4,685 (212)

Sebaceous carcinoma : a case report [PDF]

, 2018
El carcinoma de células sebáceas es un tumor maligno infrecuente de la piel. Se lo clasifica en ocular y extraocular. Su importancia radica en su agresividad con altas tasas de recurrencia y metástasis.
Abaca, María Celeste, Cantú Parra, Laura, Fernandez Tapia, María, Innocenti, Alicia Carolina, Vidal, Jorgelina Natalí   +4 more
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Rothmund-Thomson syndrome [PDF]

, 2010
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities ...
Lidia Larizza, Gaia Roversi, Ludovica Volpi   +2 more
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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

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

Squamous cell carcinoma of the tongue in a patient with rothmund-thomson syndrome (Recq4 Mutation) - intolerance to radiotherapy [PDF]

, 2009
We report a case of squamous cell carcinoma of the base of the tongue in a 27 years old patient with Rothmund-Thomson syndrome (RTS). An abnormal DNA repair mechanism in some RTS patients predispose them to malignancy and influence the tolerance to ...
Fuad I,, Hamidah A,, Jamal R,, Mazlina M,, Muhaizan WM,, Zarina AL,   +5 more
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[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

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  

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history [PDF]

, 2011
Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering ...
Bruckner-Tuderman, Leena, Castiglia, Daniele, Fischer, Judith, García Díez, Marta, Has, Cristina, Itin, Peter, Kiritsi, Dimitra, Kohlhase, Jürgen, Martin, Ludovic, Piccinni, Eugenia, Río Nechaevsky, Marcela del, Zambruno, Giovanna   +11 more
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Síndrome de Birt-Hogg-Dubé [PDF]

, 2013
A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed
Apetato, M, Lencastre, A, Lestre, S, Nunes, L, Ponte, P   +4 more
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