1,139 results match your criteria Dermatochalasis


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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July 2018
3 Reads

A novel mutation causing recessive cutis laxa with unusual manifestations of bleeding diathesis and defective wound healing.

Turk J Haematol 2018 Nov 26. Epub 2018 Nov 26.

Department of Molecular Biology-Genetics and Biotechnology, Graduate School of Science, Engineering and Technology, Istanbul Technical University, 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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November 2018
2 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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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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November 2018
6 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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October 2018
7 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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October 2018
5 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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December 2018
6 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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October 2018
7 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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October 2018
7 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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July 2018
12 Reads

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

Ophthalmic Plast Reconstr Surg 2018 Aug 17. Epub 2018 Aug 17.

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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August 2018
5 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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August 2018
3 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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August 2018
15 Reads

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Hum Mol Genet 2018 Nov;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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November 2018
14 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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July 2018
4 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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October 2018
11 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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July 2018
6 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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August 2018
14 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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June 2018
14 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
6 Reads
0.400 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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November 2018
5 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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August 2018
9 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 May 12. 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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May 2018
9 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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November 2018
12 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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August 2018
2 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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April 2018
5 Reads

Cutis laxa associated with monoclonal gammopathy: 14 new cases and review of the literature.

J Am Acad Dermatol 2018 Nov 3;79(5):945-947. Epub 2018 Apr 3.

Immuno-hematology Department, Saint-Louis Hospital, Assistance Publique Hôpitaux de Paris, Paris, France; Université Paris Diderot-Paris VII, Sorbonne Paris Cité, France.

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November 2018
14 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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July 2018
10 Reads

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.

Am J Case Rep 2018 Mar 30;19:374-381. Epub 2018 Mar 30.

Division of Hematology/Oncology, Loma Linda University School of Medicine, Loma Linda, CA, USA.

BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. Read More

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March 2018
4 Reads

Acquired cutis laxa associated with inflammatory bowel disease, inflammatory arthritis and IgA nephropathy.

Indian J Dermatol Venereol Leprol 2018 Nov-Dec;84(6):763

Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.

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March 2018
6 Reads

[Update on upper eyelid blepharoplasty].

Ophthalmologe 2018 04;115(4):266-274

Augenklinik der LMU, Klinikum der Universität München, Campus Innenstadt, Mathildenstr. 8, 80336, München, Deutschland.

Background: Upper eyelid blepharoplasty is among the most frequent oculoplastic surgical procedures. It is often performed as one of the first esthetic surgical interventions by surgeons of various disciplines. While there is a high probability of happy and satisfied patients postoperatively, there are important potential surgical complications that should be prevented. Read More

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April 2018
3 Reads

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

Pediatr Clin North Am 2018 04;65(2):375-388

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA. Electronic address:

Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease. Read More

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April 2018
15 Reads

Elastin-driven genetic diseases.

Matrix Biol 2018 Oct 28;71-72:144-160. Epub 2018 Feb 28.

National Institutes of Health, National Heart Lung and Blood Institute, Bethesda, MD, USA. Electronic address:

Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Read More

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October 2018
4 Reads

Preoperative Use of Neuromodulators to Optimize Surgical Outcomes in Upper Blepharoplasty and Brow Lift.

Aesthet Surg J 2018 Aug;38(9):941-948

University of Illinois at Chicago, Chicago, IL.

Background: Upper eyelid dermatochalasis often triggers frontalis hyperactivity in an effort to elevate the upper lids away from the visual axis. Similarly, prior neuromodulator treatment of the brow depressors may cause false elevation of the brows, diminishing the extent of preoperative brow ptosis or dermatochalasis. Studies have quantified postoperative brow ptosis and recurrent dermatochalasis following upper blepharoplasty, but a methodology to predict the postoperative brow position remains to be elucidated. Read More

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August 2018
6 Reads

Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease.

Indian Dermatol Online J 2018 Jan-Feb;9(1):44-46

Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.

Acquired cutis laxa (ACL) is a rare connective tissue disorder characterized by pendulous and coarsely wrinkled skin. There have been few cases of its association to monoclonal immunoglobulin deposition disease (MIDD), which constitutes the light chain (LCDD), heavy chain (HCDD), and light and heavy chain (LHCDD) deposition disease. MIDD predominantly involves the kidney. Read More

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February 2018
16 Reads

Incidental Detection of Bilateral Large Urinary Bladder Diverticulae on Tc99m Ethylene Dicysteine Renography with Single-photon Emission Computed Tomography-Computed Tomography.

Indian J Nucl Med 2018 Jan-Mar;33(1):79-81

Department of Nuclear Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

The complementary anatomical and functional information provided by hybrid imaging with single-photon emission computed tomography-CT (SPECT-CT) is a very useful imaging tool in selected cases where anatomical information is lacking as in the scenario of dynamic renal scintigraphy. The authors present a case of a 5-year-old male child with symptoms suggestive of cutis laxa with urinary tract infection. The child underwent dynamic renal scintigraphy with Tc99m ethylene dicysteine for cortical function and drainage assessment. Read More

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February 2018
2 Reads

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.

Ultrastruct Pathol 2018 Mar-Apr;42(2):91-96. Epub 2018 Feb 9.

a Yorkshire Regional Genetics Service , Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust , Leeds , UK.

Geroderma osteodysplasticum (GO) has clinical and histological features that overlap with other causes of wrinkly skin. Here we present the case of a child diagnosed with GO following exome sequencing of a panel of genes covering the wide differential diagnosis. The histological features of the overlapping conditions are presented, highlighting the utility of panel testing for conditions of this type. Read More

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August 2018
12 Reads

The Effect of Upper Aging Blepharoplasty on Upper and Lower Eyelid Position.

J Craniofac Surg 2018 May;29(3):747-750

Department of Ophthalmology, Korea University College of Medicine, Seoul, Korea.

Purpose: Change in eyelid position after upper blepharoplasty is an important factor that can affect postoperative patient satisfaction. However, no one has investigated eyelid changes during follow-up for upper eyelid surgery. Thus, the purpose of this study was to investigate position changes in the upper and lower eyelids during the follow-up period after upper blepharoplasty in Korean. Read More

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May 2018
2 Reads

[Clinical and genetic analysis of a patient with cutis laxa].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Feb;35(1):100-103

Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China. Email:

OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Read More

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February 2018
7 Reads

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

Mol Genet Metab 2018 03 31;123(3):364-374. Epub 2018 Jan 31.

Center for Child and Adolescent Medicine, Department I, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany. Electronic address:

Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. >100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Read More

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March 2018
12 Reads

Floppy Eyelid Syndrome: An Unfamiliar Entity for Plastic Surgeons.

Ann Plast Surg 2018 Feb;80(2S Suppl 1):S40-S47

Background: Floppy eyelid syndrome (FES) is typically characterized by chronic eye irritation and an increased laxity of the upper eyelid that can be easily everted by applying minimal upward traction. However, it is a clinical entity that is less known to most plastic surgeons. Blepharoptosis is one of the most common features, which links to FES, for which a thorough differential diagnosis has become important in directing proper medical treatment. Read More

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February 2018
8 Reads

Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.

Ann Thorac Surg 2018 Feb;105(2):e59-e61

Department of Cardiac Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings. Read More

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February 2018
11 Reads

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Am J Med Genet A 2018 03 17;176(3):668-675. Epub 2018 Jan 17.

Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.

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 of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. Read More

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March 2018
14 Reads

Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients.

Am J Dermatopathol 2018 Jun;40(6):433-437

Division of Dermatopathology, Department of Medicine, University of Arizona, Tucson, AZ.

Cutis laxa is a rare connective tissue disease involving damage to dermal elastic fibers creating a clinical appearance of loose, sagging skin. The condition can be either acquired or genetic. Autoimmune diseases, neoplasms, infections, and medications have been proposed as the cause of, or in association with, the acquired form. Read More

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June 2018
16 Reads

Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase subunits, ATP6V0A2 and ATP6V0A4.

J Biol Chem 2018 02 8;293(8):2787-2800. Epub 2018 Jan 8.

From the Dental Research Institute, Faculty of Dentistry, University of Toronto, Toronto, Ontario M5G 1G6 and

The subunit is the largest of 15 different subunits that make up the vacuolar H-ATPase (V-ATPase) complex, where it functions in proton translocation. In mammals, this subunit has four paralogous isoforms, 1-4, which may encode signals for targeting assembled V-ATPases to specific intracellular locations. Despite the functional importance of the subunit, its structure remains controversial. Read More

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February 2018
9 Reads

Multiple myeloma presenting with acquired cutis laxa and primary systemic amyloidosis.

Eur J Dermatol 2017 12;27(6):654-655

Department of Dermatology, College of Medicine, Ewha Womans University, Seoul, Korea.

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December 2017
5 Reads