Results 31 to 40 of about 4,869,361 (145)

Lipoid proteinosis: A series of three cases

Indian Journal of Paediatric Dermatology, 2018
Lipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs. Patients present with a history of repeated blistering, skin scarring,
Astha Sharma, Lalit Kumar Gupta, Manisha Balai, Ashok Kumar Khare   +3 more
doaj   +1 more source

Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach-Wiethe disease and review of the literature

, 2014
We describe the epilepsy features and emotion recognition abilities (recognition of basic facial emotions and recognition of emotional prosody) in a patient with Urbach-Wiethe disease with bilateral amygdala calcifications.
Guido Rubboli, MELETTI, Stefano, Stefano Meletti, BENUZZI, Francesca, Tassinari, Carlo Alberto, Anna Federica Marliani, Santoro, Francesca, Rubboli, Guido, Carlo Alberto Tassinari, Francesca Santoro, Marliani, Anna Federica, Gaetano Cantalupo, Cantalupo, Gaetano, Francesca Benuzzi   +13 more
core   +2 more sources

Atypical intracranial calcifications in a conventional Radiographic exam

Clinical and Biomedical Research, 2015
An 18-year-old male patient of consanguineous parents, delivered at full-term by cesarean section and having no changes in neurodevelopment, presented with skin blisters that evolved to eruptions and scars immediately after birth.
Marília Sfredo Kruger, Amália Izaura N.M. Klaes, Ana Claudia de Souza, Andreia Wallau Vilaverde, Antonio Carlos Maciel, Dorvaldo Paulo Tarasconi, Juliana Avila Duarte, Leonardo Modesti Vedolin   +7 more
doaj   +2 more sources

Amygdala control of emotion-induced forgetting and remembering: evidence from Urbach-Wiethe disease [PDF]

, 2007
When presented in a neutral context, emotional items interfere with episodic encoding of temporally contiguous non-emotional items, resulting in dissociable valence-dependent retrograde and arousal-dependent anterograde modulatory effects.
Amunts, K., Maier, W., Amunts, Katrin, Dolan, R. ; https://orcid.org/, Oros-Peusquens, A. M., Dolan, R. J., Wagner, M., Hurlemann, René, Shah, N., Hawellek, Barbara, Maier, Wolfgang, Pieperhoff, Peter, Oros-Peusquens, Ana-Maria, Shah, Nadim Joni, Hurlemann, R., Shah, J. N., Dolan, Raymond J., Pieperhoff, P., Wagner, Michael, Reich, H., Reich, Harald, Oros-Peusquens, A., Hawellek, B.   +22 more
core   +1 more source

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

Case Reports in Medicine, 2012
Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease.
Seyed-Mojtaba Abtahi, Farzan Kianersi, Mohammad-Ali Abtahi, Seyed-Hossein Abtahi, Arash Zahed, Hamid-Reza Fesharaki, Zahra-Alsadat Abtahi, Shahzad Baradaran, Mehdi Mazloumi, Saeed Naghiabadi   +9 more
doaj   +1 more source

Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness

B-ENT, 2015
Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness. Background: Lipoid proteinosis is an autosomal recessive disorder characterized by hyalin deposits in the skin and mucosa of the upper aerodigestive tract; currently, no ...
J. Honings, M. M. van Rossum, F. J. A. van den Hoogen   +2 more
doaj   +2 more sources

Eye-Lid Involvement in Urbach-Wiethe Disease

, 2006
A 27 year old female presented with burning, redness, tearing and little bumps on eye-lid margins. Her visual acuity was 20/20 in both eyes. Slit-lamp microscopy was within normal limits except for multiple papulonodular lesions on both eye-lid margins ...
Kaya, Mahrnut, Ozbek, Zeynep, Soatci, A. Osman, DURAK, İSMET, SÖYLEV BAJİN, MELTEM FATMA, Lebe, Banu   +5 more
core   +1 more source

Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease

, 2003
Siebert M, Markowitsch HJ, Bartel P. Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. BRAIN. 2003;126(12):2627-2637.Patients with Urbach-Wiethe disease constitute a unique nature experiment as more than half have ...
Bartel, P, Markowitsch, Hans J., Siebert, M   +2 more
core   +1 more source

Das Urbach-Wiethe-Syndrom als seltene Differentialdiagnose organischer Dysphonien

, 2009
Eine 28-jährige Patientin stellte sich aufgrund rezidivierender belastungsabhängiger Dysphonie in unserer phoniatrischen Abteilung vor. Bei der lupenlaryngoskopischen Untersuchung imponierte eine beerenartige, weißliche Raumforderung im Bereich des ...
Straehler-Pohl, HJ, Jahn, K, Fischer, HP, Schade, G   +3 more
core   +1 more source