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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

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:

BMC Dermatol 2019 Jan 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

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

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

Clin Dysmorphol 2019 Jan 11. Epub 2019 Jan 11.

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

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

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.

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

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

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

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

Ophthalmology 2018 Dec;125(12):1952

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

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

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

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

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

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

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

Am J Med Genet A 2018 Nov 23;176(11):2509-2512. Epub 2018 Sep 23.

Inserm UMR1231 GAD « Génétique des Anomalies du Développement » (GAD), Université de Bourgogne, Dijon, France.

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

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

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

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

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

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

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

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:

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

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

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

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

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

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

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

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

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

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.

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

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

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.

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

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

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

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

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

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

Matrix Biol 2018 10 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

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