Results 21 to 30 of about 5,131 (208)

Generalized Acquired Cutis Laxa Associated with Monoclonal Gammopathy of Dermatological Significance

Case Reports in Dermatological Medicine, 2020
Background. Cutis laxa is a rare dermatosis that is inherited or acquired and clinically features loose, wrinkled, and redundant skin with decreased elasticity.
Sophia Z. Shalhout, Myrna R. Nahas, Reed E. Drews, David M. Miller   +3 more
doaj   +1 more source

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 [PDF]

, 2018
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all ...
Callewaert, Hasegawa, Kim, Kuge, Lenz, Loeys, MacFarlane, Majewski, Ohsawa, Renard, Sousa, Tamhankar, Van Damme, Van Maldergem, Van Maldergem, Vanakker, Whyte   +16 more
core   +2 more sources

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries [PDF]

, 2017
Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial ...
Broekelmann, Thomas J, Chu, Mon-Li, Halabi, Carmen M, Lee, Vivian S, Lin, Michelle, Mecham, Robert P   +5 more
core   +3 more sources

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. [PDF]

, 2013
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5.
Bresson, J.L., Callewaert, B., Coucke, P.J., Davis, E.C., De Almeida, S., De Paepe, A., Gaspar, H., Gosendi, M.E., Heimdal, K., Kornak, U., Lee, J.G., Mac Neal, M., Madan-Khetarpal, S., Malfait, F., Mansour, S., Piérard, G.E., Prescott, K., Salhi, A., Schulz, B., Sciurba, F.C., Su, C.T., Symoens, S., Unger, S., Urban, Z., Van Damme, T., Van Maldergem, L., Vanakker, O., Vlummens, P.   +27 more
core   +1 more source

Type II acquired cutis laxa associated with recurrent urticarial vasculitis: brief report

Allergy, Asthma & Clinical Immunology, 2020
Background Cutis laxa is a connective tissue disease characterized by loose, wrinkled, and redundant skin. It is either inherited or acquired. In most cases, acquired cutis laxa is associated with neoplasms, drugs, and autoimmune diseases.
Amelia Nabatanzi, Siqi Da, Musa Male, Siyuan Chen, Changzheng Huang   +4 more
doaj   +1 more source

Angiitis with Nodule Formation, Vasomotor Instability and Secondary Cutis Laxa11From the University of Southern California School of Medicine, Department of Medicine (Doctor Winsor) and Section of Dermatology (Doctor Obermayer), Los Angeles, California. [PDF]

, 1959
https://nsuworks.nova.edu/nsudigital_harrison/3625/thumbnail ...
Obermayer, Maximilian E., Winsor, Travis
core   +1 more source

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm [PDF]

, 2017
Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance.
Hucthagowder, Vishwanathan, Jelsig, Anne Marie, Nissen, Henrik, Ousager, Lilian Bomme, Urban, Zsolt   +4 more
core   +2 more sources

Marshall's syndrome

Indian Journal of Paediatric Dermatology, 2016
Marshall's syndrome is a form of acquired cutis laxa without systemic involvement. It is characterized by acute onset of multiple erythematous papule and plaques that resolve with postinflammatory elastolysis and cutis laxa.
Neha Meena, Prafulla K Sharma, Minakshi Bhardwaj, Sawan Kumar   +3 more
doaj   +1 more source

Genetic susceptibility. [PDF]

, 2014
Why only 20% of smokers develop clinically relevant chronic obstructive pulmonary disease (COPD) was a puzzle for many years. Now, epidemiologic studies point clearly toward a large heritable component.
Lomas, David A, Marciniak, Stefan J
core   +1 more source

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

Genetics and Molecular Biology, 2005
Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy.
Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria   +2 more
doaj   +1 more source