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    Elastin, arterial mechanics, and cardiovascular disease.
    Am J Physiol Heart Circ Physiol 2018 Apr 6. Epub 2018 Apr 6.
    Washington University, United States.
    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. We summarize elastin protein biochemistry, self-association behavior, crosslinking process, and multi-step elastic fiber assembly that provide large arteries with their unique mechanical properties. Read More

    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

    Cutis laxa in a patient with 1p36 deletion syndrome.
    J Dermatol 2018 Apr 3. 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

    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

    [Update on upper eyelid blepharoplasty].
    Ophthalmologe 2018 Apr;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

    Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.
    Pediatr Clin North Am 2018 Apr;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

    Elastin-driven genetic diseases.
    Matrix Biol 2018 Feb 28. 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

    Preoperative Use of Neuromodulators to Optimize Surgical Outcomes in Upper Blepharoplasty and Brow Lift.
    Aesthet Surg J 2018 Feb 21. Epub 2018 Feb 21.
    From the 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

    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

    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

    The Effect of Upper Aging Blepharoplasty on Upper and Lower Eyelid Position.
    J Craniofac Surg 2018 Feb 7. Epub 2018 Feb 7.
    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

    [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

    Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
    Mol Genet Metab 2018 Mar 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

    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

    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

    Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
    Am J Med Genet A 2018 Mar 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

    Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients.
    Am J Dermatopathol 2018 Jan 11. Epub 2018 Jan 11.
    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

    Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase subunits, ATP6V0A2 and ATP6V0A4.
    J Biol Chem 2018 Feb 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

    Anterior lamellar recession for management of upper eyelid cicatricial entropion and associated eyelid abnormalities.
    Int J Ophthalmol 2017 18;10(12):1830-1834. Epub 2017 Dec 18.
    Faculty of Medicine, Fayoum University, Al Fayoum 63514, Egypt.
    Aim: To evaluate the functional and aesthetic outcomes of upper eyelid cicatricial entropion (UCE) correction using anterior lamellar recession (ALR) with addressing the associated conditions including dermatochalasis, brow ptosis, blepharoptosis, and lid retraction.

    Methods: Chart review of patients with upper lid cicatricial entropion who had undergone ALR from 2013 to 2016 was reviewed. Success was defined as the lack of any lash in contact with the globe, no need for a second procedure, and acceptable cosmesis at the final follow up. Read More

    Modified Levator Muscle Resection Using Putterman Muller's Muscle-Conjunctival Resection-Ptosis Clamp.
    Aesthet Surg J 2017 Nov 28. Epub 2017 Nov 28.
    Department of Ophthalmology, Chang Gung Memorial Hospital, Keelung, Taiwan; College of Medicine, Chang Gung University, Kwei-shan, Taoyuan, Taiwan.
    Background: The traditional technique for levator muscle resection includes a time-consuming dissection procedure that causes tissue trauma and swelling. The Putterman ptosis clamp has been popularly used in recent years for conjunctival müllerectomy. In this paper, we describe a modified surgical technique for ptosis treatment using the Putterman ptosis clamp. Read More

    Clinical implications of de Barsy syndrome.
    Paediatr Anaesth 2018 Jan 17;28(1):59-62. Epub 2017 Nov 17.
    Department of Anesthesiology, Mayo Clinic, Rochester, MN, USA.
    Background: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability.

    Aims: The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome.

    Methods: A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures. Read More

    Mutations in the X-linked cause a glycosylation disorder with autophagic defects.
    J Exp Med 2017 Dec 10;214(12):3707-3729. Epub 2017 Nov 10.
    Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France
    The biogenesis of the multi-subunit vacuolar-type H-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show that deficiency in the mouse liver caused hypoglycosylation of serum proteins and autophagy defects. Read More

    Peritoneal Dialysis Catheter Removal Post-Transplant - A Rare Case of Delayed Bowel Perforation.
    Perit Dial Int 2017 Nov-Dec;37(6):650-651
    Nottingham Renal and Urology Unit, Nottingham Children's Hospital, QMC, Nottingham, UK.
    Peritoneal dialysis (PD) is a well-established form of renal replacement therapy and the practice of leaving catheters post-transplantation widely accepted. We present a rare complication: a child presenting with anal protrusion of the PD catheter.The patient is an 11-year-old boy with a background of renal dysplasia and congenital cutis laxa. Read More

    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
    Am J Hum Genet 2017 Nov;101(5):833-843
    Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:
    Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c. Read More

    Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.
    Indian Dermatol Online J 2017 Sep-Oct;8(5):352-354
    Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in gene. Read More

    Temporal brow lift vs internal browpexy in females undergoing upper blepharoplasty: Effects on lateral brow lifting.
    J Cosmet Dermatol 2017 Oct 3. Epub 2017 Oct 3.
    Department of Ophthalmology, Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
    Background: Lateral brow-lifting surgical procedures in conjunction with upper blepharoplasty may prevent secondary descent following upper blepharoplasty.

    Objective: To compare the results of internal browpexy (IBP) and temporal brow lift (TBL) in patients with dermatochalasis undergoing simultaneous upper blepharoplasty.

    Methods: This study was a single-center, parallel-group randomized controlled trial conducted on 32 female patients suitable for upper blepharoplasty. Read More

    Clinical and Confocal Microscopy Study of Plasma Exeresis for Nonsurgical Blepharoplasty of the Upper Eyelid: A Pilot Study.
    Dermatol Surg 2018 Feb;44(2):283-290
    Department of Dermatology, University of Modena and Reggio Emilia, Modena, Italy.
    Background: Plasma exeresis is an evolving technique for nonsurgical treatment of several skin conditions. Reflectance confocal microscopy (RCM) is a noninvasive tool that allows the "in vivo" imaging of the skin.

    Objective: To evaluate the clinical improvement and collagen remodeling of the upper eyelid dermatochalasis after plasma exeresis. Read More

    Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature.
    Cardiovasc Pathol 2017 Nov - Dec;31:34-40. Epub 2017 Jul 27.
    Emory University School of Medicine, Department of Pediatric Pathology, Atlanta, GA, USA. Electronic address:
    The majority of thoracic aortic aneurysms (TAA) in the pediatric population are due to post repair etiology (iatrogenic). Although rare, underlying inheritable disease and congenital cardiac anomalies represent the most common non-iatrogenic cause of TAA among patients in this age group (1-21 years of age). Herein, we present a case series of 9aortic aneurysms with varying underlying etiology. Read More

    A case of localized amyloidosis of the eyelid misdiagnosed as recurrent chalazion.
    Saudi J Ophthalmol 2017 Jul-Sep;31(3):180-182. Epub 2017 May 17.
    Department of Ophthalmology, King Saud University Medical City, Riyadh, Saudi Arabia.
    Localized amyloidosis of the eyelid is uncommon and is classically associated with systemic manifestations. We present an interesting case of a localized eyelid mass misdiagnosed as a recurrent chalazion presenting in an 85-year-old Saudi gentleman with no definite associate findings suggestive of an underlying systemic amyloid disease. Debulking surgery was subsequently performed. Read More

    [Prostaglandin-associated periorbitopathy].
    Zhonghua Yan Ke Za Zhi 2017 Aug;53(8):637-640
    Department of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha 410011, China.
    Glaucoma is one of the leading causes of blindness in the world, second to cataract. The treatment of glaucoma mainly includes drugs, laser and operation, which can slow down the progress of the disease. Prostaglandin is the first-line medication at present. Read More

    Investigation of goldmann perimetry in evaluation of patients for upper eyelid blepharoplasty.
    Orbit 2018 Feb 16;37(1):48-52. Epub 2017 Aug 16.
    a College of Medicine , University of Arkansas for Medical Sciences , Little Rock , Arkansas , USA.
    Purpose: To determine if preoperative Goldmann Visual Field (GVF) testing in patients with functional dermatochalasis accurately depicts the postoperative superior visual field (SVF) outcome.

    Methods: A prospective cohort study was done to compare preoperative and postoperative GVF field tests in patients undergoing upper eyelid blepharoplasty for treatment of dermatochalasis. This study was conducted in accordance with the Declaration of Helsinki and approved by the University of Arkansas for Medical Sciences institutional review board. Read More

    Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.
    Eur J Med Genet 2017 Dec 12;60(12):635-638. Epub 2017 Aug 12.
    Department of Medical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
    Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. Read More

    Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.
    Eur J Paediatr Neurol 2017 Nov 18;21(6):912-920. Epub 2017 Jul 18.
    University of Groningen, University Medical Centre Groningen, Department of Radiology, Groningen, The Netherlands. Electronic address:
    The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid appearance, intra-uterine growth retardation, postnatal growth restriction, psychomotor developmental delay, microcephaly, cataract, hypotonia and contractures. De novo heterozygous mutations in ALDH18A1 have been described in this condition. We present neuroimaging abnormalities in three patients. Read More

    A Case of Everolimus-Induced Eyelid Edema.
    Ophthal Plast Reconstr Surg 2018 Jan/Feb;34(1):e21-e22
    Hofstra Northwell Health School of Medicine, Department of Ophthalmology, Great Neck and Department of Ophthalmology, Mount Sinai Healthcare System, New York, New York, U.S.A.
    Everolimus is a newer generation mammalian target of rapamycin inhibitor approved for immunosuppressive use in a number of advanced medical conditions. The authors report a unique case of persistent eyelid edema believed to be related to the immunosuppressive therapy. The therapy was being well tolerated despite the persistent eyelid edema, so the patient underwent a bilateral upper eyelid blepharoplasty. Read More

    Georgian Med News 2017 Jun(267):17-19
    Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany.
    Cutis laxa is a disease of premature ageing. While the congenital type is characterized by mutations of genes involved in extracellular matrix turnover, acquired cutis laxa is a rare disease that can be induced by a variety of exogenous factors. We present a case of acquired type 2 cutis laxa of the neck due to excessive exposure to natural sunlight and a type 1 facial acquired cutis laxa, both significantly improved by minor invasive procedures. Read More

    Periorbital changes associated with prostaglandin analogs in Korean patients.
    BMC Ophthalmol 2017 Jul 17;17(1):126. Epub 2017 Jul 17.
    Department of Ophthalmology, Hallym University College of Medicine, Hallym University Sacred Heart Hospital, 896 Pyeongchon-dong, Dongan-gu, Anyang, Gyeonggi-do, 431-070, South Korea.
    Background: Prostaglandin analogs (PGAs) are commonly used to treat glaucoma because of their powerful intraocular pressure lowering effect. However, various periorbital changes associated with the use of PGAs have been reported. We investigated the incidence of periorbital changes in Korean patients who were treated with PGAs, and analyzed clinical factors associated with superior sulcus deepening. Read More

    Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.
    World J Pediatr Congenit Heart Surg 2017 Jan 1:2150135117698458. Epub 2017 Jan 1.
    4 Genetic Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
    Aortic aneurysms requiring surgery in early childhood are rare. Herein we describe the case of a three-year-old with massive aneurysmal aortic dilation secondary to the rare and often lethal genetic disorder, cutis laxa. Initial thoracic aortic aneurysm gene panel was negative. Read More

    Amino acid synthesis deficiencies.
    J Inherit Metab Dis 2017 Jul 26;40(4):609-620. Epub 2017 Jun 26.
    Paediatrician for Inborn Errors of Metabolism, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.
    In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids. Read More

    Asymmetry of Preoperative Incision Design Markings for Upper Blepharoplasty.
    J Craniofac Surg 2017 Jul;28(5):e419-e422
    *Department of Ophthalmology, Soonchunhyang University College of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon †Department of Ophthalmology, Myung-Gok Eye Research Institute, Konyang University College of Medicine, Kim's Eye Hospital, Seoul, Korea.
    Purpose: To compare preoperative incision design markings between both eyelids in upper blepharoplasty.

    Methods: This retrospective study examined 22 patients who underwent bilateral upper blepharoplasty surgery resulting from senile dermatochalasis and/or blepharoptosis. The initial preoperative incision design markings were drawn with the patient sitting upright. Read More

    Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.
    Sci Adv 2017 May 3;3(5):e1602532. Epub 2017 May 3.
    Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.
    Homozygous or compound heterozygous mutations in fibulin-4 () lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial tortuosity, and aortic aneurysms. We sought to determine the consequences of a human disease-causing mutation in (E57K) on the cardiovascular system and vascular elastic fibers in a mouse model of ARCL1B. mice were hypertensive and developed arterial elongation, tortuosity, and ascending aortic aneurysms. Read More

    Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.
    J Dermatol Sci 2017 Oct 29;88(1):141-143. Epub 2017 Apr 29.
    Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:

    Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
    J Inherit Metab Dis 2017 Sep 13;40(5):745-747. Epub 2017 Apr 13.
    Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.
    Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine. Read More

    A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.
    Clin Dysmorphol 2017 Jul;26(3):142-147
    aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey bCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
    Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Read More

    Volumization of the Brow at the Time of Blepharoplasty: Treating the Eyebrow Fat Pad as an Independent Unit.
    Ophthal Plast Reconstr Surg 2017 Mar 31. Epub 2017 Mar 31.
    TOC Eye and Face, Austin, Texas, U.S.A.
    Purpose: Loss of volume in the sub-brow fat pad with associated descent of the eyebrow is a common anatomical finding resulting in both functional and aesthetic consequences. A variety of techniques have been described to address brow position at the time of blepharoplasty. To our knowledge, none of these techniques treat the sub-brow fat pad as an isolated unit. Read More

    Tangent screen perimetry in the evaluation of visual field defects associated with ptosis and dermatochalasis.
    PLoS One 2017 29;12(3):e0174607. Epub 2017 Mar 29.
    Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States of America.
    Purpose: To determine if tangent visual fields gathered during assessment of superior visual field deficits caused by blepharoptosis and dermatochalasis offer good correlation to clinical exam in a time and cost efficient manner.

    Methods: Prospective, observational case series. Subjects included all patients referred to a single surgeon (CCN) who underwent surgical correction of blepharoptosis and/or dermatochalasis. Read More

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