Results 61 to 70 of about 787 (149)

Bilateral selective amygdala calcifications: lipoid proteinosis

Journal of the Belgian Society of Radiology, 2013
A 14-year-old boy presented with progressive skin and mucous membrane changes including multipl papules on the eyelid margins. His parents also noted hoarseness since early childhood. His rashes emerged first when he was 1-month-old and healed by leaving
C Yilmaz, B Gulek, E Çenesizoglu, Ö Kaya, G Söker, A Hursit Ispir   +5 more
doaj   +1 more source

SCARF2 is a target for chronic obstructive pulmonary disease: Evidence from multi‐omics research and cohort validation

Aging Cell, Volume 23, Issue 10, October 2024.
This study integrated genome, transcriptome, and proteome data to explore the potential target for chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF), and found the robust associations of SCARF2with them. Furthermore, single cell transcriptome analysis implicated that SCARF2was lowly expressed in epithelial cells for ...
Sai Wang, Yuanyi Yue, Xueqing Wang, Yue Tan, Qiang Zhang   +4 more
wiley   +1 more source

Lipoid proteinosis: A rare congenital genodermatosis

Journal of Dr. NTR University of Health Sciences, 2017
Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the ...
Mitali Madhumita Rath, Pranita Mohanty
doaj   +1 more source

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Respirology, Volume 29, Issue 4, Page 312-323, April 2024.
We report the characteristics and follow‐up data of 36 adult patients in France with ILD associated variant(s) in SFTPC or ABCA3. SFTPC and ABCA3‐associated ILD present with a distinct phenotype and prognosis. A radiologic pattern of fibrosing ILD with ground‐glass opacities and/or cysts is frequently found in these rare conditions. Abstract Background
Rémi Diesler, Marie Legendre, Salim Si‐Mohamed, Pierre‐Yves Brillet, Lidwine Wemeau, Effrosyni D. Manali, Frédéric Gagnadoux, Sandrine Hirschi, Gwenaël Lorillon, Martine Reynaud‐Gaubert, Vanessa Bironneau, Elodie Blanchard, Arnaud Bourdin, Stéphane Dominique, Aurélien Justet, Julie Macey, Sylvain Marchand‐Adam, Hélène Morisse‐Pradier, Hilario Nunes, Spyros A. Papiris, Julie Traclet, Ibrahim Traore, Bruno Crestani, Serge Amselem, Nadia Nathan, Raphaël Borie, Vincent Cottin, the OrphaLung network, Rola Abou Taam, Julien Bermudez, Philippe Bonniaud, Alexandre Brudon, Pierrick Cros, Céline Delestrain, Ralph Epaud, Helen Fouquet, Anne Gondouin, Alice Hadchouel Duverge, Stéphane Jouneau, Karine Juvin, Jérôme Le Pavec, Jean‐Claude Meurice, Mouhamad Nasser, Jean Pastre, Clément Picard, Mathilde Provost, Adrien Tissot, Yurdagul Uzunhan, Dominique Valeyre   +48 more
wiley   +1 more source

Lipoid Proteinosis Beyond the Skin: Unmasking its Oral Presentation

Journal of Multidisciplinary Dental Research
Lipoid proteinosis (LP) is a rare congenital disorder marked by hyaline material accumulation in various organs, with only about 400 cases reported.
Abrielle K Lamphere
doaj   +1 more source

Lipoid Proteinosis

Indian journal of dermatology and venereology
LeWitt TM, Sathe NC, Zhou XA.
europepmc   +2 more sources

Lipoid proteinosis in siblings

Dermatology Online Journal, 2003
Two sisters, aged 16 and 11, presented with skin lesions and hoarseness since early childhood. Skin lesions consisted of infiltrated warty nodules, and papules over elbows, axillae, and hands. The oral mucosa, tongue, lips, larynx, and vocal cords also showed infiltration. The characteristic beaded papules on eyelid margin and hoarseness pointed to the
openaire   +4 more sources

Exploring protein–protein interactions and oligomerization state of pulmonary surfactant protein C (SP‐C) through FRET and fluorescence self‐quenching

Protein Science, Volume 33, Issue 1, January 2024.
Abstract Pulmonary surfactant (PS) is a lipid–protein complex that forms films reducing surface tension at the alveolar air–liquid interface. Surfactant protein C (SP‐C) plays a key role in rearranging the lipids at the PS surface layers during breathing.
Mishelle Morán‐Lalangui, Ana Coutinho, Manuel Prieto, Alexander Fedorov, Jesús Pérez‐Gil, Luís M. S. Loura, Begoña García‐Álvarez   +6 more
wiley   +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