Cutis Laxa

A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)

Also Known As:

Networked: 202 relevant articles (2 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Wounds and Injuries (Trauma)
2.	Cicatrix (Scar)
3.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
4.	Marfan Syndrome (Marfan's Syndrome)
5.	Supravalvular Aortic Stenosis (Aortic Supravalvular Stenosis)

Experts

1.	Morava, Eva: 9 articles (04/2014 - 04/2005)
2.	Kornak, Uwe: 7 articles (09/2015 - 01/2008)
3.	Urban, Zsolt: 7 articles (05/2014 - 06/2005)
4.	Wevers, Ron A: 6 articles (04/2014 - 06/2005)
5.	Davis, Elaine C: 5 articles (01/2013 - 05/2003)
6.	Mohamed, Miski: 4 articles (04/2014 - 08/2011)
7.	Gardeitchik, Thatjana: 4 articles (04/2014 - 08/2011)
8.	Kielty, Cay M: 4 articles (01/2013 - 01/2006)
9.	De Paepe, Anne: 4 articles (01/2013 - 09/2002)
10.	Mecham, Robert P: 4 articles (06/2012 - 05/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cutis Laxa:

1.	Botulinum Toxins (Botulinum Toxin)IBA 12/01/2004 - "The authors report a patient with cutis laxa in which botulinum toxin was used for the improvement of facial aesthetics. " 12/01/2004 - "Cutis laxa: Improvement of facial aesthetics by using botulinum toxin." 05/01/2009 - "Endly, a case of cutis laxa was described where the patient was improved by cutaneous injections of botulinum toxin."
2.	PlasticsIBA 03/01/1993 - "Congenital cutis laxa is a deforming disease that may present for plastic surgical consultation during childhood. " 03/01/1993 - "Plastic surgical procedures can be aesthetically and psychologically beneficial in children with congenital cutis laxa, and can be recommended without overt fear of wound disruption, poor scarring, and medical catastrophies that can occur with other hyperelasticity syndromes."
3.	ElastinIBA 04/01/2003 - "In the present study, we analyzed the gene expression of elastin and fibulins 1-5 in fibroblasts from five patients with cutis laxa. " 05/01/2014 - "A novel elastin gene mutation in a Vietnamese patient with cutis laxa." 01/01/2014 - "Mutations in the elastin gene lead to cutis laxa. " 06/22/2012 - "To investigate the pathophysiology underlying a class of elastin gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the human elastin gene contained in a bacterial artificial chromosome. " 06/22/2012 - "Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa."
4.	CollagenIBA 01/01/1987 - "Collagen studies in congenital cutis laxa." 01/01/2010 - "Skin biopsy showed fragmentation of the elastic tissue with collagen tissue in the dermis, which was suggestive of Cutis Laxa. " 09/01/1991 - "Normal collagen synthetic activity was observed in the cutis laxa fibroblasts. " 06/15/1976 - "Abnormally soluble collagen is synthesized in vitro not only by skin fibroblasts of Marfan patients but also by those of patients with Ehlers-Danlos type V and cutis laxa. " 09/01/1989 - "Light and electron microscopic studies of skin from patients with inherited connective tissue disorders (e.g., Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, cutis laxa) have led us to the following generalizations about what components change, how individual collagen or elastic fibers are altered and how individual alterations affect overall dermal organization: 1) There is a limited change in the repertoire of collagen fibrils in the skin; 2) there appears to be a greater range of abnormal structure in dermal elastic fibers than in the collagen fibrils; 3) the morphology of the fibroblastic cells may provide clues to the defect in matrix components; 4) similar structural abnormalities result from different molecular defect; 5) a molecular defect in one connective tissue molecule has consequences for the structural properties of other connective tissue components; and 6) although structural alterations in connective tissue fibers are rarely specific for a given disease, there are characteristic patterns of structural change in the matrix that may be used to confirm a diagnosis. "
5.	Proline (L-Proline)FDA Link 09/01/2012 - "Morphological and functional studies of fibroblast mitochondria show that P5CS deficiency is not associated with the mitochondrial alterations observed in Δ(1)-pyrroline-5-carboxylate reductase deficiency (another proline biosynthesis defect presenting cutis laxa and neurological alterations)." 01/01/2012 - "Proline metabolism is linked to hyperprolinemia, schizophrenia, cutis laxa, and cancer. " 09/01/2002 - "Molecular study of the fibulin-5 (FBLN5) gene in a large consanguineous Turkish family with four patients affected by AR cutis laxa type I demonstrated the presence of a homozygous missense mutation (T998C) in the FBLN5 gene resulting in a serine-to-proline (S227P) substitution in the fourth calcium-binding epidermal growth factor-like domain of fibulin-5 protein. "
6.	Generalized elastolysisIBA 04/01/2005 - "Cutis laxa (generalized elastolysis) is characterized by sagging folds of loose skin on the face and trunk. " 04/01/2005 - "A case of congenital cutis laxa (generalized elastolysis)." 09/01/2002 - "Congenital cutis laxa is an uncommon disorder of generalized elastolysis. " 07/01/1995 - "Generalized elastolysis (cutis laxa): case study illustrating associated medical and surgical conditions." 04/01/1989 - "Cutis laxa (generalized elastolysis) is a rare systemic disorder of connective tissue, whose elastic fibers appear fragmented and disorganized. "
7.	recessive Cutis laxaIBA 11/01/2008 - "In the present study we analyzed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa; LOX, FBLN4, and FBLN5 genes. " 01/01/1994 - "The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). " 01/01/2013 - "Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. " 01/01/2013 - "Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause supravalvular aortic stenosis and autosomal dominant cutis laxa, mutations in fibrillin-1 cause Marfan syndrome and Weill-Marchesani syndrome, and mutations in fibulins-4 and -5 cause autosomal recessive cutis laxa. "
8.	OxidoreductasesIBA 09/01/2012 - "Morphological and functional studies of fibroblast mitochondria show that P5CS deficiency is not associated with the mitochondrial alterations observed in Δ(1)-pyrroline-5-carboxylate reductase deficiency (another proline biosynthesis defect presenting cutis laxa and neurological alterations)." 11/01/2013 - "Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene." 07/01/2009 - "Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2."
9.	CalciumIBA 08/01/2000 - "A 17-year-old Korean girl presented cutis laxa-like marked wrinkling on the flexural area, and a skin biopsy specimen revealed multiple foci of ossification with irregularly clumped, basophilic-stained elastic fibers in the reticular dermis and calcium deposits along the elastic fibers. " 09/01/2002 - "Molecular study of the fibulin-5 (FBLN5) gene in a large consanguineous Turkish family with four patients affected by AR cutis laxa type I demonstrated the presence of a homozygous missense mutation (T998C) in the FBLN5 gene resulting in a serine-to-proline (S227P) substitution in the fourth calcium-binding epidermal growth factor-like domain of fibulin-5 protein. "
10.	Collagen Type I (Type I Collagen)IBA 01/01/1988 - "Immunofluorescence was employed to study distribution of collagen type I, III, IV and V, and fibronectin in skin biopsy specimens from patients with Ehlers-Danlos syndrome (EDS) and cutis laxa. " 01/01/1988 - "[Collagen type I, III, IV and V and fibronectin in skin biopsies of patients with Ehlers-Danlos syndrome and cutis laxa]."

Therapies and Procedures

1.	Injections 05/01/2009 - "Endly, a case of cutis laxa was described where the patient was improved by cutaneous injections of botulinum toxin."
2.	Rhytidoplasty (Facelift) 09/01/1999 - "Repeated face lifts seem to be an interesting way to manage patients with cutis laxa. " 03/01/1993 - "A face-lift and direct nasolabial fold excision was performed in a 10-year old patient with congenital cutis laxa with a good result. "
3.	Blepharoplasty 12/01/2007 - "Localized cutis laxa and blepharoplasty."
4.	Hematopoietic Stem Cell Mobilization 02/01/2009 - "Generalized cutis laxa and fibrillar glomerulopathy resulting from IgG Deposition in IgG-lambda Monoclonal Gammopathy: pulmonary hemorrhage during stem cell mobilization and complete hematological response with bortezomib and dexamethasone therapy."
5.	Mammaplasty (Breast Reconstruction) 10/01/2000 - "Bilateral deep inferior epigastric perforator (DIEP) flap breast reconstruction after weight reduction following VBG resulted in an esthetic pleasing result with additional correction of the cutis laxa abdominis. "