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J Cataract Refract Surg 2022 Jul;48(7):863

A 62-year-old woman with stable unilateral glaucoma in the left eye presented for a cataract consultation. In 2010, laser peripheral iridotomies (LPI) were performed on both eyes by a different provider. Her postoperative course was complicated by a recalcitrant steroid response with a highest intraocular pressure (IOP) of 65 mm Hg in the left eye. Read More

Dtsch Arztebl Int 2022 Mar;119(11):187

J Clin Med 2022 Apr 23;11(9). Epub 2022 Apr 23.

Department of Ophthalmology, Far Eastern Memorial Hospital, New Taipei City 220, Taiwan.

This study aimed to investigate the relationships between subjective symptoms, objective signs, and dermatochalasis severity in dry-eye patients and the effects of lid hygiene on dry-eye parameters. We retrospectively enrolled 2328 patients who underwent dry-eye examinations and classified them into four groups by dermatochalasis severity. The SPEED and OSDI questionnaires were used to evaluate subjective symptoms. Read More

Klin Monbl Augenheilkd 2022 Apr 26;239(4):404-408. Epub 2022 Apr 26.

UniversitätsSpital Zürich, Department of Ophthalmology, Zürich, Switzerland.

Lymphoma lesions are frequent, but their appearance may differ. We discuss aspects that are not to be overlooked. We present seven cases (aged 40 - 93 years) with unexpected lymphoma findings, demonstrating a vast variability of history, clinic, and management. Read More

Mol Biol Rep 2022 May 20;49(5):4135-4140. Epub 2022 Apr 20.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

Background: Autosomal recessive cutis laxa (ARCL) is a heterogeneous disorder with three primary forms (ARCL 1, ARCL 2 and ARCL 3). Latent transforming growth factor beta binding protein 4 (LTBP4) anomalies cause ARCL1C and are connected to different problems in the skin and other organs. Herein, we present a seven month old Iranian boy with a clinical manifestation of ARCL1 with literature review of previous cases with attributes of ARCL1C. Read More

Front Genet 2022 31;13:852764. Epub 2022 Mar 31.

Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, China.

Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD. One 10-month-old Chinese boy who met the clinical manifestations of MD was enrolled in this study. Read More

J Cosmet Dermatol 2022 Mar 31. Epub 2022 Mar 31.

Clinical Pharmacology and Toxicology Consultant in Aesthetic Medicine, Milan, Italy.

Introduction: Mainly in the past, foreign body complications, including granuloma, were pretty frequent after semi-permanent polymethyl-methacrylate (PMMA) implants.

Results: The authors describe a twenty-year history of recurring post-PMMA complications interspersed by long uneventful years, with acute edematous side effects evolving into unpleasant skin dystrophia with persistent cutis laxa. The case report also discusses a simple clinical algorithm to discriminate among foreign body complications with particular attention to granulomas. Read More

Front Surg 2022 16;9:814897. Epub 2022 Mar 16.

Department of Plastic Surgery, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

Cutis Laxa is a rare connective tissue disease featuring inelastic and saggy skin. It is thought that plastic surgery might be the most effective treatment, while the previous pieces of literature on the surgical treatment for Cutis Laxa complained of the recurrence. We report a patient of Congenital Cutis Laxa who has received systematic and sequential treatment based on plastic surgery. Read More

Graefes Arch Clin Exp Ophthalmol 2022 Mar 16. Epub 2022 Mar 16.

Pathology Department, Ankara Training and Research Hospital, University of Health Science, Ankara, Turkey.

Purpose: To evaluate the histopathological effects of collagen cross-linking (CCL) on excised skin samples of patients undergoing upper eyelid blepharoplasty due to dermatochalasis.

Methods: This study examined 74 excised eyelid skin samples from 37 dermatochalasis patients. Following an upper eyelid blepharoplasty, CCL with hypotonic riboflavin (0. Read More

Ann Plast Surg 2022 Jul 10;89(1):54-58. Epub 2022 Mar 10.

From the Department for Oral and Maxillofacial Surgery, Hannover Medical School, Hannover, Germany.

Abstract: Free flap transfer for reconstruction of intraoral defects is a common procedure in oral and maxillofacial surgery. For tumor-related defects, the radial forearm flap is widely used for soft tissue restoration. However, transfer of free skin grafts to the donor site region is often required for wound closure after free flap harvesting, resulting in esthetic disturbances due to shrinkage of the grafted skin, attendant scarring, or mismatches in skin texture or color. Read More

Auris Nasus Larynx 2022 Feb 28. Epub 2022 Feb 28.

Department of Otolaryngology, The University of Tokyo, Tokyo, Japan.

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant systemic amyloidosis, characterized by cranial and sensory peripheral neuropathy, corneal lattice dystrophy, and cutis laxa. We report a case of HGA presenting with bilateral facial palsy. A 70-year-old Japanese man presented with slowly progressive bilateral facial palsy and facial twitching, which had started in his 40s. Read More

J Craniofac Surg 2022 Feb 14. Epub 2022 Feb 14.

Department of Plastic and Reconstructive Surgery, Armed Forces Capital Hospital, Seongnam, Republic of Korea.

Abstract: Dermatochalasis is a consequence of aging and results in various problems, such as tired look, dry eye syndrome, or reduced vision. Although the demand for upper blepharoplasty is growing in the senescing world, the demand from male patients has been generally overlooked. Male patients prefer natural creases and fast recoveries, with minimal swelling. Read More

Nat Genet 2022 Feb;54(2):213

Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria.

Ophthalmic Plast Reconstr Surg 2022 Jan 13. Epub 2022 Jan 13.

Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, U.S.A.

Purpose: Outpatient visits and surgeries for nonurgent indications in ophthalmology have intermittently been restricted during the COVID-19 pandemic. Telemedicine services have rapidly gained acceptance during this period, and could improve patient access for routine oculoplastic evaluations in the future. The objective of this study is to investigate interobserver and intraobserver reliability of eyelid and brow position assessment and surgical plan when comparing photography-based and face-to-face evaluation. Read More

Aesthetic Plast Surg 2022 Jan 11. Epub 2022 Jan 11.

Department of Ophthalmology, Adiyaman University Education and Research Hospital, Adiyaman, Turkey.

Purpose: To investigate the effects of blepharoplasty on intraocular pressure (IOP) and ocular biometric parameters.

Methods: A total of 112 eyelids of 56 patients undergoing bilateral blepharoplasty due to upper eyelid dermatochalasis was included. The patients were classified into three groups according to margin reflex distance (MRD) (Group 1 >4 mm MRD, Group 2 2-4 mm MRD, and Group 3 <2 mm MRD). Read More

Adv Exp Med Biol 2021 ;1348:C1

Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.

Heart Surg Forum 2021 Dec 17;24(6):E1054-E1056. Epub 2021 Dec 17.

1Department of Anesthesia and Critical Care, King Abdul-Aziz University Hospital, Jeddah, Kingdom Saudi Arabia;.

Ascending thoracic aortic aneurysms are rare in childhood and typically are seen in the setting of connective tissue defect syndromes. These aneurysms may lead to rupture, dissection, or valvular insufficiency, so root replacement is recommended. Here, we present a 17-month-old girl who presented with fever, cough, and pericardial effusion. Read More

Clin Dysmorphol 2022 Apr;31(2):66-70

Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex.

Comput Struct Biotechnol J 2021 19;19:6355-6365. Epub 2021 Nov 19.

Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Milano, Italy.

Gelsolin comprises six homologous domains, named G1 to G6. Single point substitutions in this protein are responsible for AGel amyloidosis, a hereditary disease causing progressive corneal lattice dystrophy, cutis laxa, and polyneuropathy. Although several different amyloidogenic variants of gelsolin have been identified, only the most common mutants present in the G2 domain have been thoroughly characterized, leading to clarification of the functional mechanism. Read More

Pediatr Dermatol 2022 Mar 20;39(2):312-313. Epub 2021 Dec 20.

Departments of Dermatology and Pathology, All India Institute of Medical Sciences, New Delhi, India.

Acquired cutis laxa type II (Marshall syndrome) is a post-inflammatory elastolysis occurring in infancy and childhood. It is challenging to treat with very few effective treatment options available. Herein, we describe the case of a 3-month-old boy with acquired cutis laxa type II secondary to a neutrophilic dermatosis. Read More

Cureus 2021 Nov 8;13(11):e19359. Epub 2021 Nov 8.

Division of Cardiac Surgery, Cardiovascular Department, King Faisal Specialist Hospital and Research Center, Jeddah, SAU.

Cutis laxa syndrome is an uncommon connective tissue disorder affecting the major ultrastructure of the skin by progressive loss of elasticity. The results of this syndrome lead to the appearance of premature aging, which might also affect the internal organs. The disorder can be either congenital or acquired. Read More

Front Cardiovasc Med 2021 24;8:756765. Epub 2021 Nov 24.

Department of Cardiology, Government General Hospital, Ernakulam, India.

Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause. We report a rare occurrence of severe thoracic aortic aneurysms (involving the ascending, arch and descending aortic segments) with severe aortic insufficiency in a 7-year-old female child secondary to the extremely rare and often lethal genetic disorder, cutis laxa. Read More

J Eur Acad Dermatol Venereol 2022 05 22;36(5):e354-e356. Epub 2021 Dec 22.

Department of Dermatology, Grenoble Alpes University Hospital, Grenoble, France.

Am J Hum Genet 2021 Dec;108(12):2386-2388

Echocardiography 2021 12 29;38(12):2095-2099. Epub 2021 Nov 29.

Paediatric Cardiology Division, Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.

Aortic aneurysms are rare in the pediatric age group and are commonly caused by genetic disorders associated with vasculopathy, weakness and fragility of arterial walls with progressive dilatation or even rupture. We reported a giant aortic aneurysm involving the ascending aorta and aortic arch in a 20-month-old girl with autosomal recessive cutis laxa type 1B (ARCL1B) who presented with hemorrhagic pericardial effusion and tamponade (impending rupture). Successful surgical repair has been done through excision of the aneurysmal part and replacement by Hemashield graft with preservation of the aortic valve. Read More

J Fr Ophtalmol 2022 Jan 26;45(1):53-56. Epub 2021 Nov 26.

Ophthalmology Department, Botucatu Medical School, State University of São Paulo-UNESP, avenida Professor Mário Rubens Montenegro, Botucatu, 18618-970 São Paulo, Brazil.

Purpose: To present combined procedures performed for cosmesis in patients with dermatochalasis who underwent upper lid blepharoplasty (ULB).

Method: This retrospective cross-sectional study evaluated patients who underwent ULB with associated surgical procedures from 2012 to 2016. Data were collected on patient demographics and types of procedures. Read More

Adv Exp Med Biol 2021 ;1348:273-309

Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.

Cutis laxa (CL) syndromes are a large and heterogeneous group of rare connective tissue disorders that share loose redundant skin as a hallmark clinical feature, which reflects dermal elastic fiber fragmentation. Both acquired and congenital-Mendelian- forms exist. Acquired forms are progressive and often preceded by inflammatory triggers in the skin, but may show systemic elastolysis. Read More

Adv Exp Med Biol 2021 ;1348:251-264

Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.

Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. Read More

Adv Exp Med Biol 2021 ;1348:105-126

Department of Pathology, College of Veterinary Medicine, and Department of Basic Sciences, AU/UGA Medical Partnership, The University of Georgia, Athens, GA, USA.

Collagens are the most abundant components of the extracellular matrix (ECM) and many types of soft tissues. Elastin is another major component of certain soft tissues, such as arterial walls and ligaments. It is an insoluble polymer of the monomeric soluble precursor tropoelastin, and the main component of elastic fibers in matrix tissue where it provides elastic recoil and resilience to a variety of connective tissues, e. Read More

Adv Exp Med Biol 2021 ;1348:1-3

Department of Pathology, College of Veterinary Medicine, and Department of Basic Sciences, AU/UGA Medical Partnership, The University of Georgia, Athens, GA, USA.

Just like the first edition of this widely successful book the second edition provides latest updates of our understanding of pathophysiology, pathology, clinical presentation and treatment of heritable soft connective tissue diseases. In addition, new knowledge of not only structures but also of functions of basic components of connective tissues (e.g. Read More