Results 11 to 20 of about 3,923 (158)

De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets

Clinical Case Reports
Cutis laxa is a genetically heterogeneous disorder characterized primarily by loose, redundant skin with abnormal wrinkling and elasticity. It is an exceptionally rare condition, with an estimated prevalence of A (p.Arg126His) substitution in the ...
Subhangi Chandan, Jay Gohri, Arshia Jolly, Mayuri Chaurasia   +3 more
doaj   +2 more sources

A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant

Molecular Genetics & Genomic Medicine
Background Lenz‐Majewski syndrome (LMS) is a rare genetic disorder characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous, and distal‐limb anomalies.
Yasuko Kobari, Non Miyata, Jun Takayama, Naoya Saijo, Tomohisa Suzuki, Shigeo Kure, Atsuo Kikuchi, Gen Tamiya, Takumi Takizawa   +8 more
doaj   +2 more sources

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
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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

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

Metabolic cutis laxa syndromes [PDF]

, 2011
Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix.
A Sarkozy, B Reversade, BD Gelb, BG Ng, C Noordam, C Vulpe, D Syx, D Valle, DL Guernsey, DM Danks, Dorus Kouwenberg, E Adams, E Elahi, E Leao-Teles, E Morava, E Morava, E Morava, E Morava, E Morava, E Morava, Eva Morava, F Bamatter, H Mégarbané, HC Hennies, I Grigoriev, J Camakaris, J Chelly, JF Mercer, JH Menkes, JM Phang, JM Phang, K Saito, L Basel-Vanagaite, L Maldergem Van, L Maldergem Van, LB Møller, LJ Spaapen, LS Bicknell, M Guillard, Miski Mohamed, MJ Petris, MR Baumgartner, MR Baumgartner, P Kamoun, Q Hu, RJ Smith, Ron A. Wevers, S Shafqat, S Wopereis, S Wopereis, SG Kaler, T Kleefstra, Thatjana Gardeitchik, U Kornak, UF Engelke, Uwe Kornak, V Hucthagowder, V Valayannopoulos, VK Proud, X Wu, Y Sun, Y Yamaguchi, Z Urban, Z Urban   +63 more
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Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa

American Journal of Ophthalmology Case Reports, 2019
Purpose: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. Observations: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye ...
Thomas F. Mauger, Chantelle L. Mundy, Tyler D. Oostra, Pratik J. Patel   +3 more
doaj   +1 more source

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
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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

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