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: 213 relevant articles (3 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hyperpigmentation
2.	Wounds and Injuries (Trauma)
3.	Pruritus (Itching)
4.	Cicatrix (Scar)
5.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)

Experts

1.	Morava, Eva: 11 articles (11/2020 - 04/2005)
2.	Urban, Zsolt: 7 articles (11/2020 - 06/2005)
3.	Wevers, Ron A: 7 articles (11/2020 - 06/2005)
4.	Gardeitchik, Thatjana: 6 articles (11/2020 - 08/2011)
5.	Mohamed, Miski: 6 articles (11/2020 - 08/2011)
6.	Kornak, Uwe: 5 articles (01/2021 - 01/2008)
7.	Lefeber, Dirk J: 5 articles (01/2017 - 09/2009)
8.	Davis, Elaine C: 5 articles (06/2012 - 01/2002)
9.	Loeys, Bart: 4 articles (12/2019 - 09/2002)
10.	Coucke, Paul: 4 articles (01/2017 - 09/2002)

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.	Histamine Antagonists (Antihistamines)IBA 01/01/2020 - "Following the Food and Drug Administration (FDA) guidelines, we administered antihistamines, which relieved the itching, but her hyperpigmentation and cutis laxa never improved. "
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. " 05/01/2022 - "Cutis laxa is characterized by drooping skin, caused by decreased levels of dermal elastin, leading to reduced skin elasticity. " 01/01/2021 - "Mutations in the elastin gene lead to cutis laxa. " 01/01/2019 - "A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report." 01/01/2019 - "Cutis laxa is an uncommon connective tissue disorder affecting the elastin fibers leading to lax and pendulous skin and in generalized form can present with systemic involvement. "
4.	CollagenIBA 01/01/1987 - "Collagen studies in congenital cutis laxa." 01/01/2017 - "In addition to showing reduced and fragmented elastic fibers, the histopathological hallmark of cutis laxa, transmission electron microscopy of the dermis also showed pronounced changes in the structure and organization of the collagen fibers. " 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. "
5.	Proline (L-Proline)FDA Link 01/01/2012 - "Proline metabolism is linked to hyperprolinemia, schizophrenia, cutis laxa, and cancer. " 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)." 01/01/2021 - "One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v-ATPase components or the mitochondrial proline cycle. " 01/01/2017 - "The brain abnormalities are accompanied by skin disorders such as cutis laxa in defects of proline synthesis, collodion-like skin and ichthyosis in serine deficiency, and necrolytic erythema in glutamine deficiency. " 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.	Proteins (Proteins, Gene)FDA Link 08/01/2011 - "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. " 11/15/2007 - "Mutations involving elastic tissue proteins result in a broad spectrum of phenotypes affecting skin, skeleton, ocular and vascular structures, including tortuous blood vessels and cutis laxa. " 06/30/2005 - "Improper glycosylation of ECM proteins of skin may form the pathophysiological basis for the cutis laxa phenotype." 01/10/2002 - "This phenotype, which resembles the cutis laxa syndrome in humans, reveals a critical function for fibulin-5 as a scaffold protein that organizes and links elastic fibres to cells. " 02/01/1994 - "Fibrillary protein deposits with tubular substructure in a systemic disease beginning as cutis laxa."
7.	Oxidoreductases (Dehydrogenase)IBA 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." 01/01/2019 - "Clinical data pointed out that homozygotic or heterozygotic mutation in the pyrroline-5-carboxylate reductase 1 (PYCR1) gene in humans caused cutis laxa (ARCL) disease, with progeroid appearance, lax and wrinkled skin, joint laxity, osteopenia, and mental retardation phenotypes. " 04/01/2017 - "Pyrroline-5-carboxylate reductase (P5CR), an enzyme with conserved housekeeping roles, is involved in the etiology of cutis laxa. "
8.	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. " 11/01/2022 - "This report demonstrates that a genetic alteration in the EGF-like 14 domain calcium-binding motif of LTBP4 gene is likely responsible for cutis laxa in our patient." 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. "
9.	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]." 02/01/1976 - "Thus far, the primary heritable disorders of collagen metabolism in man include lysyl hydroxylase deficiency in Ehlers-Danlos syndrome type VI, p-collagen peptidase deficency in Ehlers-Danlos syndrome type VII, decreased synthesis of type III collagen in Ehlers-Danlos syndrome type IV, lysyl oxidase deficency in S-linked cutis laxa and Ehlers-Danlos syndrome type V, and decreased synthesis of type I collagen in osteogenesis imperfecta."
10.	Nonsense Codon (Nonsense Mutation)IBA 08/01/2011 - "We report the case of a 20-month-old boy with a confirmatory molecular study, showing a novel nonsense mutation in NSD1 gene, presenting cutis laxa as the main phenotypic trait in the neonatal period. " 07/01/2018 - "Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2." 08/01/2011 - "[Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa]."

Therapies and Procedures

1.	Plastic Surgery Procedures 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."
2.	Injections 05/01/2009 - "Endly, a case of cutis laxa was described where the patient was improved by cutaneous injections of botulinum toxin."
3.	Therapeutics 01/15/1981 - "We report the case of a seventeen years old boy with cutis laxa and surgical therapy." 12/01/2000 - "It is hoped that this device will be useful for the evaluation of certain skin disorders (scleroderma, Ehlers-Danlos syndrome, cutis laxa, oedema, etc.) and their therapy, as well as being a useful tool in skin ageing and cosmetic product assessment." 11/01/2022 - "Cutis laxa usually precedes cardiac complications or, as in our case, occurs simultaneously; thus, immediate cardiac and rheumatologic examinations are important to initiate systemic therapy with anti-inflammatory and immunomodulatory agents early to prevent complications. " 07/01/1985 - "A 10-year-old boy developed cutis laxa while receiving isoniazid therapy; no systemic manifestations occurred. " 07/01/2015 - "We present two cases of Wilson's disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy manifesting as skin fragility over pressure sites and cutis laxa-like changes. "
4.	Rhytidoplasty (Facelift) 06/01/2023 - "Cutis Laxa and the Value of Rhytidectomy: 4 Patients and Years of Follow-Up." 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. "
5.	Sutures (Suture) 02/01/2021 - "We present five sibs of a consanguineous Pakistani family afflicted with a new syndrome with an unusual combination of skeletal anomalies including cranial asymmetry, fused sagittal sutures deviating from the medial axis, mandibular prognathia, maxillary hypoplasia, misaligned and crowded teeth, delayed bone age, multiple dislocations, hypoplastic and malpositioned patellae, humeral intracondylar fissures, scapular dyskinesis, long limbs, lumbar lordosis, protruding chest, prominent clavicles, short 5th digital rays, and ventral transverse digital creases plus features of cutis laxa. " 01/01/1996 - "This entity, although several lengths of duplicated fragment or mosaicism, is characterized by high and large forehead flattened at the centre due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic sutures, consequent hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern. "