1,157 results match your criteria Dermatochalasis


The Outcomes Assessment of the Plasma Blade Technology in Upper Blepharoplasties: A Prospective Study on a Series of 25 Patients.

Aesthetic Plast Surg 2019 Mar 29. Epub 2019 Mar 29.

Department of Plastic, Reconstructive, Aesthetic and Maxillofacial Surgery, Henri Mondor Hospital, 51 Avenue du Maréchal de Lattre de Tassigny, 94010, Créteil, France.

Background: The Dermo Ablation Surgery (DAS) Medical® (Technolux, Italy) device is a plasma blade which induces a plasma voltaic arc causing a retraction in the epidermis and superficial dermis.

Objective: The aim of our study is to prove the efficacy and safety of the DAS Medical® device in dermatochalasis size reduction.

Methods: Our prospective study included 25 adult patients presenting with upper eyelid dermatochalasis undergoing a two-session treatment protocol with the DAS Medical® device (with a month treatment-free interval). Read More

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http://dx.doi.org/10.1007/s00266-019-01360-2DOI Listing
March 2019
4 Reads
1.189 Impact Factor

Genetic Advances in COPD: Insights from COPDGene.

Am J Respir Crit Care Med 2019 Mar 25. Epub 2019 Mar 25.

Brigham and Women's Hospital, Channing Division of Network Medicine, Boston, Massachusetts, United States.

Chronic obstructive pulmonary disease (COPD) is a common and progressive disease that is influenced by both genetic and environmental factors. For many years, knowledge of the genetic basis of COPD was limited to Mendelian syndromes, such as alpha-1 antitrypsin deficiency and cutis laxa, caused by rare genetic variants. Fortunately, over the past decade, the proliferation of genome-wide association studies (GWAS), the accessibility of whole genome sequencing, and the development of novel methods for analyzing genetic variation data have led to a substantial increase in our understanding of genetic variants that play a role in COPD susceptibility and COPD-related phenotypes. Read More

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http://dx.doi.org/10.1164/rccm.201808-1455SODOI Listing
March 2019
1 Read

Correction of Severe Dermatochalasis in Asians Using an Extended Infrabrow Excision.

Dermatol Surg 2019 Mar 18. Epub 2019 Mar 18.

Department of Plastic Surgery, Kyung Hee University Medical Center, Kyung Hee University School of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1097/DSS.0000000000001901DOI Listing

Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.

Mediterr J Hematol Infect Dis 2019 1;11(1):e2019018. Epub 2019 Mar 1.

National Institute of Immunohaematology, 13 the floor KEM hospital MS building, Parel, Mumbai 400012, Maharashtra, India.

An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any paroxysmal attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. Read More

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https://www.mjhid.org/index.php/mjhid/article/view/2019.018
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http://dx.doi.org/10.4084/MJHID.2019.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402545PMC
March 2019
3 Reads

Acquired Localized Cutis Laxa: A Case Report and the Role of Plastic Surgery.

Indian J Dermatol 2019 Jan-Feb;64(1):55-58

Department of Plastic and Reconstructive Surgery, King George Medical University, Lucknow, Uttar Pradesh, India.

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. Congenital cutis laxa is common in comparison to acquired cutis laxa and has varied inheritance patterns. Treatment is chiefly observation in congenital cutis laxa, and there is a paucity of literature on surgical management in acquired cutis laxa. Read More

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http://dx.doi.org/10.4103/ijd.IJD_14_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340237PMC
February 2019
4 Reads

Blepharochalasis: A rare presentation of cutis laxa.

Actas Dermosifiliogr 2019 Feb 2. Epub 2019 Feb 2.

Servicio de Dermatología, Hospital Universitario, Escuela de Medicina, Universidad Federal de Río de Janeiro, Río de Janeiro, Brasil. Electronic address:

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http://dx.doi.org/10.1016/j.ad.2018.04.006DOI Listing
February 2019
1 Read

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.

BMC Dermatol 2019 01 31;19(1). Epub 2019 Jan 31.

Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.

Background: Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. Read More

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https://bmcdermatol.biomedcentral.com/articles/10.1186/s1289
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http://dx.doi.org/10.1186/s12895-019-0084-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357400PMC
January 2019
12 Reads

Cutaneous Elastic Tissue Anomalies.

Am J Dermatopathol 2019 Feb;41(2):85-117

Department of Dermatology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.

After a review of the physiology in the formation and degradation of cutaneous elastic tissue, we describe the clinicopathologic disorders characterized by increased and decreased cutaneous elastic tissue. Cutaneous disorders characterized by increased and/or abnormal elastic tissue in the dermis include elastoma, also named nevus elasticus, dermatosis lenticularis disseminata, pseudoxanthoma elasticum, late-onset focal dermal elastosis, linear focal elastosis, elastoderma, elastofibroma dorsi, and elastosis perforans serpiginosa. In some of these conditions, the specific histopathologic diagnosis may be rendered with hematoxylin-eosin stain, whereas in other ones special elastic tissue stains are necessary to demonstrate the anomalies. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001275DOI Listing
February 2019
5 Reads

The Genetics of Pneumothorax.

Am J Respir Crit Care Med 2019 Jan 25. Epub 2019 Jan 25.

Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States ;

A genetic influence on spontaneous pneumothoraces - those occurring without a traumatic or iatrogenic cause - is supported by several lines of evidence: 1) Pneumothorax can cluster in families (i.e. familial spontaneous pneumothorax); 2) Mutations in the FLCN gene have been found in both familial and sporadic cases; and 3) Pneumothorax is a known complication of several genetic syndromes. Read More

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https://www.atsjournals.org/doi/10.1164/rccm.201807-1212CI
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http://dx.doi.org/10.1164/rccm.201807-1212CIDOI Listing
January 2019
23 Reads

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.

Clin Dysmorphol 2019 Apr;28(2):63-65

Pediatrics, Medical Faculty, Inonu University, Malatya, Turkey.

FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000258DOI Listing
April 2019
4 Reads

Novel Mutation in a Patient With APLAID and Cutis Laxa.

Front Immunol 2018 14;9:2863. Epub 2018 Dec 14.

Department of Medicine, University of Cambridge, Cambridge, United Kingdom.

The auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome is a rare primary immunodeficiency caused by a gain-of-function mutation S707Y in the gene previously described in two patients from one family. The APLAID patients presented with early-onset blistering skin lesions, posterior uveitis, inflammatory bowel disease (IBD) and recurrent sinopulmonary infections caused by a humoral defect, but lacked circulating autoantibodies and had no cold-induced urticaria, contrary to the patients with the related PLAID syndrome. We describe a new APLAID patient who presented with vesiculopustular rash in the 1st weeks of life, followed by IBD, posterior uveitis, recurrent chest infections, interstitial pneumonitis, and also had sensorineural deafness and cutis laxa. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02863
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http://dx.doi.org/10.3389/fimmu.2018.02863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302768PMC
December 2018
9 Reads

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).

JAMA Dermatol 2018 Dec 26. Epub 2018 Dec 26.

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, England.

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http://dx.doi.org/10.1001/jamadermatol.2018.4665DOI Listing
December 2018
1 Read

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.

Neuromuscul Disord 2019 Jan 8;29(1):75-79. Epub 2018 Nov 8.

Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Institut de Myologie, CHU La Pitié-Salpêtrière, APHP, Paris, France.

PIEZO2 mutations have been described in dominant arthrogryposis, but homozygous mutations of PIEZO2 may also be responsible for more complex clinical patterns, associating distal arthrogryposis, neonatal respiratory insufficiency, scoliosis and proprioceptive impairment. We report here two sisters presenting with these clinical and genetic features. They had a similar phenotype, with severe hypotonia and respiratory distress at birth, delayed acquisition of motor milestones and need of scoliosis surgery. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183115
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http://dx.doi.org/10.1016/j.nmd.2018.10.005DOI Listing
January 2019
12 Reads

A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.

Aging Dis 2018 Dec 4;9(6):1043-1057. Epub 2018 Dec 4.

2Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.

Aging is a complex biological process. A study of pyrroline-5-carboxylate reductase 1 (PYCR1) deficiency, which causes a progeroid syndrome, may not only shed light on its genetic contribution to autosomal recessive cutis laxa (ARCL) but also help elucidate the functional mechanisms associated with aging. In this study, we used RNA-Seq technology to examine gene expression changes in primary skin fibroblasts from healthy controls and patients with mutations. Read More

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http://dx.doi.org/10.14336/AD.2018.0222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284769PMC
December 2018
1 Read

Platelet-rich Plasma for Skin Rejuvenation and Treatment of Actinic Elastosis in the Lower Eyelid Area.

Cureus 2018 Jul 18;10(7):e2999. Epub 2018 Jul 18.

Plastic Surgery, Waldkrankenhaus Bonn, Bonn, DEU.

Background Treatment of the lower eyelid region to rejuvenate the skin or treat actinic elastosis often proves difficult. Established treatment options, such as hyaluronic acid injections, botulinum toxin injections, microneedling, skin resurfacing (microdermabrasion, chemical peel (exfoliation), laser treatment), as well as blepharoplasties and autologous fat transfers, can be associated with significant risks and increased patient burden. Furthermore, they may not be effective for treating the signs of skin aging or actinic elastosis, including dark rings under the eyes, a lack of volume and cutis laxa. Read More

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https://www.cureus.com/articles/11999-platelet-rich-plasma-f
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http://dx.doi.org/10.7759/cureus.2999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260498PMC
July 2018
27 Reads

A Novel Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing

Turk J Haematol 2019 02 26;36(1):29-36. Epub 2018 Nov 26.

İstanbul Technical University, Graduate School of Science, Engineering and Technology, Department of Molecular Biology-Genetics and Biotechnology, İstanbul, Turkey

Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose and elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations in . Those mutations lead to increased pH in secretory vesicles and thereby to impaired glycosyltransferase activity and organelle trafficking. Read More

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http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373508PMC
February 2019
6 Reads

Acquired Cutis Laxa Presenting as Pedunculated Eyelid Plaques in an Adult.

Ophthalmology 2018 Dec;125(12):1952

Department of Ophthalmology, University of Montreal, Montreal, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183210
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http://dx.doi.org/10.1016/j.ophtha.2018.08.028DOI Listing
December 2018
2 Reads

Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature.

Ann Thorac Med 2018 Oct-Dec;13(4):254-256

Department of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Cutis laxa (CL) is a rare connective tissue disease characterized by a loose, wrinkled, and inelastic skin. Here, we report an unusual presentation in a 15-year-old male patient who is a known patient of CL who presented with bilateral pneumothorax. He was successfully managed initially by chest tube insertion and then he was treated surgically with bilateral staged thoracoscopy, apical bullectomy, and pleurodesis with full uneventful recovery. Read More

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http://dx.doi.org/10.4103/atm.ATM_402_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196669PMC
November 2018
10 Reads

Effect of prostaglandin analogs on matrix metalloproteinases and tissue inhibitor of metalloproteinases in eyelid muscle specimens.

Clin Ophthalmol 2018 11;12:2039-2046. Epub 2018 Oct 11.

Bascom Palmer Eye Institute, Miami, FL, USA,

Purpose: To characterize the effect of prostaglandin analogs (PAs) on tissue specific expression of matrix metalloproteinases (MMPs) and tissue inhibitor of metalloproteinases (TIMPs) in levator aponeurosis resections (LAR) and conjunctiva-Muller muscle resections (CMMR).

Methods: Specimens from LAR and CMMR of PA users and non-users were analyzed for tissue specific expression of MMP-3, MMP-7, MMP-9 and TIMP-2 using immunohistochemistry. PA use, marginal reflex distances, levator function and palpebral fissure were documented through chart review. Read More

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http://dx.doi.org/10.2147/OPTH.S178106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188183PMC
October 2018
16 Reads

Study on the Aging Dynamics of the Periorbital Region: From Observation to Knowledge of Physiopathology.

Ophthalmic Plast Reconstr Surg 2018 Oct 9. Epub 2018 Oct 9.

Clinic of Plastic and Reconstructive Surgery, Academic Hospital of Udine, DAME Department of Medical Area, University of Udine, Italy.

Purpose: Several anatomical and physio-pathologic studies of eyelid region have allowed the creation of theories on facial tissues aging dynamics, which have not been clarified yet. We assessed the signs of aging in the region over the time by observing the characteristics in the same person at different times of his/her life.

Methods: We compared the position of the main anatomical landmarks of the eyelid region of 80 patients by overlaying their photographs when they were 20, 40, and 60 years old. Read More

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http://Insights.ovid.com/crossref?an=00002341-900000000-9841
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http://dx.doi.org/10.1097/IOP.0000000000001247DOI Listing
October 2018
6 Reads

[Multifocal chalazodermic amyloidosis: The concept of immunoglobulinemic elastopathy].

Ann Dermatol Venereol 2018 Dec 9;145(12):777-784. Epub 2018 Oct 9.

Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1 place de l'hôpital, 67091, Strasbourg, France.

Introduction: Impairment of dermal elastic tissue occurs in different entities associated with immunoglobulins or immunoglobulin-derived protein-secreting clonal plasma cell proliferations, such as amyloid elastosis, anetodermic nodular amyloidosis or monoclonal gammopathy-associated cutis laxa. We report a case of cutaneous immunoglobulinemic amyloidosis revealed by a unique chalazodermic presentation and we review elastic tissue impairment in patients with monoclonal gammopathies.

Observation: A 67-year-old woman consulted for non-infiltrated anetodermic lesions on the upper left quadrant of her abdomen present for ten years. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183052
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http://dx.doi.org/10.1016/j.annder.2018.07.021DOI Listing
December 2018
9 Reads

Effect of superior blepharoplasty on tear film: objective evaluation with the Keratograph 5M - a pilot study.

Arq Bras Oftalmol 2018 Nov./Dec.;81(6):471-474. Epub 2018 Oct 8.

Ophthalmology Department, Hospital de Braga, Braga, Portugal.

Purpose: To evaluate the effect of superior blepharoplasty on the tear film using the corneal topographer Keratograph 5M.

Methods: A prospective study was performed of 27 eyes of 14 patients with superior dermatochalasis who underwent superior blepharoplasty between May and June 2016. Conservative upper eyelid blepharoplasty was performed by an en bloc resection of anterior lamellar tissue that included skin, subcutaneous tissue, and the orbicularis oculi muscle. Read More

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http://dx.doi.org/10.5935/0004-2749.20180094DOI Listing
October 2018
12 Reads

Selecting the Best Eyelid Techniques.

Facial Plast Surg 2018 Oct 8;34(5):497-504. Epub 2018 Oct 8.

Department of Otolaryngology-Head and Neck Surgery, University of Kansas Medical Center, Kansas City, Kansas.

The periorbital region is a focal point on the face. Dermatochalasis, fat herniation, blepharoptosis, brow ptosis, deep tear troughs, and malar fat pad descent are all age-related changes that occur around the eyes, and successful rejuvenation involves addressing all of these changes. Restoring a youthful, vibrant appearance to the eyes and periorbital areas can often only be accomplished with a combination of surgical and nonsurgical interventions. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1672148
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http://dx.doi.org/10.1055/s-0038-1672148DOI Listing
October 2018
8 Reads

Unusual localized skin laxity in three sika deer.

Vet Dermatol 2018 12 4;29(6):542-544. Epub 2018 Oct 4.

State Key Laboratory for Molecular Biology of Special Economic Animals, Department of Animal Breeding innovation, Institute of Special Animals and Plants Sciences, Chinese Academy of Agricultural Sciences, Changchun, 130112, China.

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http://dx.doi.org/10.1111/vde.12694DOI Listing
December 2018
5 Reads

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in .

Mol Syndromol 2018 Jul 8;9(4):190-196. Epub 2018 Jun 8.

Unités Fonctionnelles de Fœtopathologie.

mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Read More

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https://www.karger.com/Article/FullText/489838
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http://dx.doi.org/10.1159/000489838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103346PMC
July 2018
27 Reads

The Relationship Between Eyebrow and Eyelid Position in Patients With Ptosis, Dermatochalasis and Controls.

Ophthalmic Plast Reconstr Surg 2019 Jan/Feb;35(1):85-90

Division of Orbital and Ophthalmic Plastic Surgery, Stein Eye Institute, University of California, Los Angeles, Los Angeles, California, U.S.A.

Purpose: The purpose of this study is to explore mechanical and co-innervational factors involved in both voluntary and involuntary brow elevation among people affected by ptosis and dermatochalasis.

Methods: In this prospective cohort study of normal controls and eyelids with ptosis or dermatochalasis, marginal reflex distance (MRD1) and brow height were measured under the following conditions: neutral position, involuntary mechanical brow elevation, voluntary brow elevation, and maximal eyelid opening. The primary outcome measure was change in MRD1. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001178DOI Listing
August 2018
9 Reads

Swollen hand joints, arthralgia, photosensitivity and generalized acquired cutis laxa-like presentation of leprosy.

J Dtsch Dermatol Ges 2018 Aug;16(8):1026-1028

Dermatology, Flat no. 11, Manomay apartment, Khande mala, Savatanagar, CIDCO, Nashik, State-Maharashtra, India.

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http://doi.wiley.com/10.1111/ddg.13617
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http://dx.doi.org/10.1111/ddg.13617DOI Listing
August 2018
5 Reads

Schwellung der Handgelenke, Arthralgie, Photosensibilität und erworbene generalisierte Cutis-laxa-artige Manifestation einer Lepra.

J Dtsch Dermatol Ges 2018 Aug;16(8):1026-1028

Dermatology, Flat no. 11, Manomay apartment, Khande mala, Savatanagar, CIDCO, Nashik, State-Maharashtra, India.

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http://doi.wiley.com/10.1111/ddg.13617_g
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http://dx.doi.org/10.1111/ddg.13617_gDOI Listing
August 2018
16 Reads

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Hum Mol Genet 2018 11;27(21):3801-3812

Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.

Chronic obstructive pulmonary disease (COPD), one of the leading causes of death worldwide, is substantially influenced by genetic factors. Alpha-1 antitrypsin deficiency demonstrates that rare coding variants of large effect can influence COPD susceptibility. To identify additional rare coding variants in patients with severe COPD, we conducted whole exome sequencing analysis in 2543 subjects from two family-based studies (Boston Early-Onset COPD Study and International COPD Genetics Network) and one case-control study (COPDGene). Read More

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http://dx.doi.org/10.1093/hmg/ddy269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196654PMC
November 2018
23 Reads

[Autosomal recessive cutis laxa: New genes identified].

Authors:
O Dereure

Ann Dermatol Venereol 2018 Aug - Sep;145(8-9):554-555. Epub 2018 Jul 26.

Département de dermatologie et Inserm U 1058, université Montpellier, 34090 Montpellier cedex 5, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183042
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http://dx.doi.org/10.1016/j.annder.2018.05.003DOI Listing
July 2018
5 Reads

Cutis laxa for diagnosis of γ1-heavy-chain deposition disease: Report of four cases.

J Dermatol 2018 Oct 23;45(10):1211-1215. Epub 2018 Jul 23.

Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, INSERM UMRS_1165, Paris Diderot University, Sorbonne Paris Cité, Paris, France.

Heavy-chain deposition disease (HCDD) is characterized by tissue deposits of a truncated monoclonal immunoglobulin heavy-chain (HC) on basement membranes. Diagnosis is usually made on kidney biopsy, showing nodular glomerulosclerosis with HC deposits which can be missed, resulting in delay in diagnosis. We report four γ1-HCDD patients presenting with cutis laxa, hypocomplementemia and hypoalbuminemia. Read More

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http://doi.wiley.com/10.1111/1346-8138.14544
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http://dx.doi.org/10.1111/1346-8138.14544DOI Listing
October 2018
12 Reads

Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Expert Rev Clin Pharmacol 2018 Jul 19;11(7):689-703. Epub 2018 Jul 19.

b Division of Medical Genetics , IRCCS-Casa Sollievo della Sofferenza , San Giovanni Rotondo , FG , Italy.

Introduction: Joint hypermobility (JH) is the hallmark of many hereditary soft connective tissue disorders, including Ehlers-Danlos syndromes and related disorders, disorders of the TGFβ-pathway, lateral meningocele syndrome, arterial tortuosity syndrome, and cutis laxa syndromes. Contemporary practice separates individuals with isolated, non-syndromic JH from patients with Mendelian syndromes and those with hypermobility spectrum disorders. The latter is a new nosologic entity grouping together individuals with JH and related musculoskeletal manifestations, but lacking inclusion criteria for well-defined and/or single-gene disorders. Read More

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https://www.tandfonline.com/doi/full/10.1080/17512433.2018.1
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http://dx.doi.org/10.1080/17512433.2018.1497973DOI Listing
July 2018
7 Reads

Direct Excision of the Lower Eyelid: A Safe and Effective Method for Treating Dermatochalasis and Pigmentation.

Facial Plast Surg 2018 Aug 28;34(4):412-418. Epub 2018 Jun 28.

Department of Otolaryngology - Head and Neck Surgery, Rutgers Robert Wood Johnson Medical School New Brunswick, New Brunswick, New Jersey.

The subciliary and skin pinch approaches are the most widely accepted techniques for treating dermatochalasis of the lower eyelid. Direct excision (DE) is an accepted method for treating festoons; however, it is not a popular technique for the treatment of dermatochalasis and pigment of the lower lid. DE of the lower lid offers a safe and excellent aesthetic result for dermatochalasis and pigment of the lower lid, without causing lower lid malposition, which can occur with more traditional methods. Read More

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http://dx.doi.org/10.1055/s-0038-1666787DOI Listing
August 2018
16 Reads

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.

Exp Dermatol 2018 Jun 28. Epub 2018 Jun 28.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

In ATP6V0A2-related cutis laxa, the skin phenotype varies from a wrinkly skin to prominent cutis laxa and typically associates with skeletal and neurological manifestations. The phenotype remains incompletely characterized, especially in adult patients. Glycosylation defects and reduced acidification of secretory vesicles contribute to the pathogenesis, but the consequences at the clinical level remain to be determined. Read More

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http://doi.wiley.com/10.1111/exd.13723
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http://dx.doi.org/10.1111/exd.13723DOI Listing
June 2018
18 Reads

Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features.

J Pak Med Assoc 2018 May;68(5):793-796

Department of Pediatrics, Unit II, Civil Hospital.

Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient. Read More

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May 2018
8 Reads
0.403 Impact Factor

Case of acquired cutis laxa with preceding urticarial eruption treated by diphenyl sulfone.

J Dermatol 2018 Nov 21;45(11):e292-e293. Epub 2018 May 21.

Department of Dermatology, Tokyo Women's Medical University, Tokyo, Japan.

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http://doi.wiley.com/10.1111/1346-8138.14465
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http://dx.doi.org/10.1111/1346-8138.14465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282697PMC
November 2018
6 Reads

Facial Plastic Surgery in the Geriatric Population.

Otolaryngol Clin North Am 2018 Aug 17;51(4):789-802. Epub 2018 May 17.

Division of Facial Plastic and Reconstructive Surgery, Department of Otolaryngology-Head and Neck Surgery, Northwestern University, NMH/Arkes Family Pavilion Suite 1325, 676 N Saint Clair, Chicago, IL 60611, USA.

Greater life expectancy with advancements in technology and medicine has led to an increasing interest in facial rejuvenation. Facial aging is an inevitable process that largely results from soft tissue descent and volumetric deflation. However, a comprehensive knowledge of the aging process and precise assessment of the exact pathologies yielding the patient's senescent appearance is essential to produce the best cosmetic outcome. Read More

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http://dx.doi.org/10.1016/j.otc.2018.03.013DOI Listing
August 2018
11 Reads

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

Neurogenetics 2018 Aug 12;19(3):145-149. Epub 2018 May 12.

Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.

Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), which consists of two domains, the glutamate 5-kinase (G5K) and the gamma-glutamyl phosphate reductase (GR5P) domain. The location of the mutations in the gene has influence on whether the amino acid levels are affected. Read More

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http://link.springer.com/10.1007/s10048-018-0547-7
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http://dx.doi.org/10.1007/s10048-018-0547-7DOI Listing
August 2018
11 Reads

A case of generalized acquired cutis laxa.

Int J Dermatol 2018 11 4;57(11):1369-1371. Epub 2018 May 4.

Department of Dermatology, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea.

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http://doi.wiley.com/10.1111/ijd.13998
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http://dx.doi.org/10.1111/ijd.13998DOI Listing
November 2018
27 Reads

Elastin, arterial mechanics, and cardiovascular disease.

Am J Physiol Heart Circ Physiol 2018 Aug 6;315(2):H189-H205. Epub 2018 Apr 6.

Department of Mechanical Engineering and Materials Science, Washington University , St. Louis, Missouri.

Large, elastic arteries are composed of cells and a specialized extracellular matrix that provides reversible elasticity and strength. Elastin is the matrix protein responsible for this reversible elasticity that reduces the workload on the heart and dampens pulsatile flow in distal arteries. Here, we summarize the elastin protein biochemistry, self-association behavior, cross-linking process, and multistep elastic fiber assembly that provide large arteries with their unique mechanical properties. Read More

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http://dx.doi.org/10.1152/ajpheart.00087.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139627PMC
August 2018
4 Reads

Effect of Orbicularis Muscle Resection during Blepharoplasty on the Position of the Eyebrow.

Facial Plast Surg 2018 Apr 9;34(2):178-182. Epub 2018 Apr 9.

Department of Otolaryngology, Medical School, Federal University of Uberlandia, Uberlândia, Minas Gerais, Brazil.

Dermatochalasis is a skin excess in the upper eyelid which may be associated with either an aesthetic and functional defect, blocking the peripheral vision. Upper blepharoplasty is the gold standard procedure for correction of dermatochalasis and to restore youthful contours to the periorbita. It is one of the most commonly performed procedures in aesthetic plastic surgery; however, there is still a lack of consensus about this procedure. Read More

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http://dx.doi.org/10.1055/s-0038-1636904DOI Listing
April 2018
9 Reads

Cutis laxa in a patient with 1p36 deletion syndrome.

J Dermatol 2018 Jul 3;45(7):871-873. Epub 2018 Apr 3.

Department of Dermatology, Shanghai Children's Medical Center, Shanghai Jiaotong University, School of Medicine, Shanghai, China.

Chromosome 1p36 deletion is the most common subtelomeric deletion syndrome characterized by variable features including unique facial appearance, intellectual disability, developmental delay, cardiac defects, seizures and hypotonia. Here, we report a patient with developmental delay, dilated cardiomyopathy, seizures, hirsutism and cutis laxa who was diagnosed with 1p36 deletion syndrome by chromosome microarray analysis. This patient is the first reported case of 1p36 deletion syndrome associated with cutis laxa and our results suggest that the 1p36 region contains one or more genes relevant to cutis laxa. Read More

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http://dx.doi.org/10.1111/1346-8138.14311DOI Listing
July 2018
18 Reads