Results 1 to 10 of about 6,036 (217)

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

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   +5 more sources

Congenital Cutis Laxa: A Case Report and Literature Review [PDF]

Frontiers in Surgery, 2022
Cutis Laxa is a rare connective tissue disease featuring inelastic and saggy skin. It is thought that plastic surgery might be the most effective treatment, while the previous pieces of literature on the surgical treatment for Cutis Laxa complained of ...
Yang Kun, Shi Mengdong, Fu Cong, Huo Ran, Huo Ran   +4 more
doaj   +3 more sources

A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa [PDF]

Clinical Case Reports
AKE and cutis laxa type ARCL1A are both disorders of elastic fibers characterized histologically by elastin degeneration and/or fragmentation. However, the pathogenesis is thought to be distinct. AKE is an autosomal dominant disorder with an unknown gene
Sumayyah I Alrefaie, Sarah B. Aljoudi, Houriah Y. Nukaly, Waseem K. Alhawsawi, Asem Shadid, Sultan AlNasser, Jehad Hariri   +6 more
doaj   +3 more sources

Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa [PDF]

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   +3 more sources

The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up [PDF]

BMC Pulmonary Medicine
Background Cutis laxa constitutes a diverse group of connective tissue diseases, both inherited and acquired, characterized by loose skin and varying systemic involvement, including pulmonary lesions.
Masanori Kaji, Ho Namkoong, Shotaro Chubachi, Hiromu Tanaka, Takanori Asakura, Mizuha Haraguchi Hashiguchi, Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Naoya Tanabe, Yoshitake Yamada, Taiki Nozaki, Takeshi Ouchi, Atsutoshi Tsuji, Kenjiro Kosaki, Naoki Hasegawa, Koichi Fukunaga   +16 more
doaj   +4 more sources

A Case of Congenital Cutis Laxa (Generalized Elastolysis) [PDF]

Canadian Respiratory Journal, 2005
Cutis laxa (generalized elastolysis) is characterized by sagging folds of loose skin on the face and trunk. Although grouped with hyperelastic skin conditions such as Ehlers-Danlos syndrome, cutis laxa shows an almost total lack of skin elasticity ...
Paul Champion, Frank Ryan
doaj   +2 more sources

Metabolic cutis laxa syndromes [PDF]

Journal of Inherited Metabolic Disease, 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
core   +9 more sources

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

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   +2 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   +3 more sources

The diagnostic dilemma of cutis laxa: A report of two cases with genotypic dissimilarity

Indian Journal of Dermatology, 2015
Cutis laxa is a heterogeneous group of diseases, with loose, wrinkled skin folds and hyperelasticity of the skin. There are overlapping of clinical features of the group of syndrome associated with cutis laxa, including congenital cutis laxa, wrinkly ...
Manisha Goyal, Ankur Singh, Uwe Kornak, Seema Kapoor   +3 more
doaj   +2 more sources