ABSTRACT
Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.
Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/etiology , Adult , Arachnodactyly/diagnosis , Arachnodactyly/etiology , Blepharophimosis/diagnosis , Blepharophimosis/etiology , Cesarean Section , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/etiology , Contracture/diagnosis , Contracture/etiology , Female , Heart Septal Defects, Atrial/etiology , Hernia, Inguinal/etiology , Humans , Infant, Premature , MaleABSTRACT
Background & objectives: Cutaneous vasculitis has protean clinical manifestations. It may be idiopathic or associated with a spectrum of conditions such as infections, drugs, etc. Skin is involved in both small vessel vasculitis (SVV) and medium vessel vasculitis (MVV). Overlapping features are seen between SVV and MVV. The histopathological features may not always relate with the clinical lesions. The aim of the present study was to evaluate the aetiological factors and clinicopathological association in patients with cutaneous vasculitis. Methods: In this cross-sectional study, detailed history and clinical examination were done on patients with biopsy proven cutaneous vasculitis. Two skin biopsies were taken from each patient for routine histopathology and direct immunofluorescence. Results: Of the 61 patients studied, hypersensitivity vasculitis (HSV) [23 (37.7%)] and Henoch Schonlein purpura (HSP) [16 (26.2%)] were the two most common forms. Systemic involvement was seen in 32 (52.45%) patients. Drugs were implicated in 12 (19.7%) cases, infections in 7 (11.4%) and connective tissue disorders in 4 (6.5%) cases. Histologically SVV was the most common pattern, seen in all the clinically diagnosed patients with SVV (47), and in 12 of the 14 clinically diagnosed patients with MVV. Direct immunofluorescence showed positivity for at least one immunoreactant in 62 per cent of the patients and the most common deposit was C3 followed by IgG, IgA and IgM. Interpretation & conclusions: Majority of our patients with cutaneous vasculitis were idiopathic. Histologically, SVV was seen in most of our patients. No association was seen between history of drug intake and tissue eosinophilia and also between histologically severe vasculitis and clinical severity. The presence of immunoreactant IgA was not specific for HSP.
Subject(s)
Biopsy , Blood Vessels/pathology , Connective Tissue Diseases/blood , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/etiology , Connective Tissue Diseases/pathology , Diagnosis, Differential , Female , Humans , Male , Microscopic Polyangiitis/blood , Microscopic Polyangiitis/diagnosis , Microscopic Polyangiitis/etiology , Microscopic Polyangiitis/pathology , IgA Vasculitis/blood , IgA Vasculitis/diagnosis , IgA Vasculitis/etiology , IgA Vasculitis/pathology , Vasculitis, Leukocytoclastic, Cutaneous/blood , Vasculitis, Leukocytoclastic, Cutaneous/diagnosis , Vasculitis, Leukocytoclastic, Cutaneous/etiology , Vasculitis, Leukocytoclastic, Cutaneous/pathologyABSTRACT
O propósito deste artigo é focar as principais manifestações neurológicas das doenças difusas do tecido conjuntivo, com ênfase nas suas manifestações clínicas. Os autores discutem as várias complicações do sistema nervoso central e periférico na doença muscular inflamatória (polimiosite e dermatomiosite), policondrite recidivante, esclerose sistêmica, artrite reumatoide, síndrome de Sjõgren, doença mista do tecido conjuntivo (doença de Sharp), lúpus eritematoso sistêmico e síndrome do anticorpo antifosfolipide.
The purpose of this article is to focus on the major nervous system manifestations in connective tissue diseases, with emphasis on their clinica findings. Authors discuss several complications in inflammatory muscle disease (polymyositis an dermatomyositis), relapsing polychondritis, systemic sclarosis, rheumatoid arthritis, Sjõgren syndorme, mixed connective tissue (Sharp disease), systemic lupus erythematosus and antiphospholipid syndrome.
Subject(s)
Male , Female , Connective Tissue Diseases/classification , Connective Tissue Diseases/complications , Connective Tissue Diseases/etiology , Connective Tissue Diseases/physiopathology , Connective Tissue Diseases/psychology , Arthritis, Rheumatoid/physiopathology , Mixed Connective Tissue Disease/physiopathology , Nervous System Diseases/classification , Nervous System Diseases/diagnosis , Nervous System Diseases/etiology , Nervous System Diseases/psychology , Scleroderma, Systemic/physiopathology , Lupus Erythematosus, Systemic/physiopathology , Polychondritis, Relapsing/physiopathology , Polymyositis/physiopathology , Antiphospholipid Syndrome/physiopathology , Sjogren's Syndrome/physiopathologyABSTRACT
La investigación del prof. P.I. Branemark ha permitido el desarrollo de sólidas bases científicas en el empleo de la implantación óseo integrada, lo que determinó un cambio radical en el tratamiento de los pacientes parcial y totalmente desdentados
Subject(s)
Humans , Connective Tissue Diseases/etiology , Dental Implantation, Endosseous/methods , Biocompatible Materials/therapeutic use , Titanium/therapeutic useABSTRACT
The current status of the silicone breast implants which have recently come under scrutiny by the FDA and received much unfavorable media coverage is reviewed. The gel-filled breast implants which in 1976 were "grandfathered" by the FDA have now been required to provide scientific evidence of safety and effectiveness by July 9, 1991. The possible risks of silicone breast implants include capsular contracture, interference with early tumor detection by routine mammography, developments of sarcomas in laboratory animals (no human cases are reported), silicone gel leakage and connective tissue disease. In the less frequently used polyurethane to diaminotoluene (TDA) has caused liver cancer in laboratory animals, yet at present, this type of implant has been voluntarily removed from the market by the manufacturer. After reviewing the available evidence, the American Society of Plastic Surgery still considers silicone breast implants reliable and safe
Subject(s)
Mammaplasty/trends , Prostheses and Implants , Silicones , Breast Neoplasms/etiology , Connective Tissue Diseases/etiology , Mammaplasty/statistics & numerical data , Polyurethanes , Prostheses and Implants , Risk Factors , Silicones/adverse effects , United States , United States Food and Drug AdministrationABSTRACT
Os autores fazem um estudo retrospectivo de 15 pacientes com diagnóstico de doença mista do tecido conjuntivo. Säo pacientes brasileiras, todas do sexo feminino, de 22 a 56 anos. Os sinais e sintomas mais freqüentes em nossa casuística säo: poliartrite 14(93%), dedos "em salsicha" 11(73%), fenômeno de Raynaud 11 (73%), rigidez matinal 7 (47%), febre 7 (47%), fraqueza muscular 8 (53%), acometimento digestivo (epigastralgia, pirose, gastrite, úlcera oral e perianal, peritonite, disfagia) 7 (47%), acometimento pleuropulmonar (dor torácica, dispnéia e derrame pleural) 6 (40%), rash cutâneo 5 (33%), vasculite 5 (33%), acometimento cardíaco (precordialgia, taquicardia, pericardite, derrame pericárdico e insuficiência cardíaca congestiva 5 33%). Os achados laboratoriais mostraram: FAN positivo em 100% dos casos, com padräo predominantemente pontilhado 13 (87%). AntiDNA nativo presente em 4 pacientes (27%), anti-RNP positivo em todos os soros testados. O fator reumatóide IgM foi positivo em 4(27%), Sm 5/15 (33%), SSA 1/14 (7%), SSB 2/15 (13%). IgG aumentada em 14/14 (100%). IgM aumentada em 9/14 (64%), IgA aumentada em 5.14 (36%). C3 reduzido em 7/14 (50%), C4 reduzido em 2/14 (14%)
Subject(s)
Adult , Middle Aged , Humans , Female , Connective Tissue Diseases/diagnosis , Clinical Laboratory Techniques , Connective Tissue Diseases/etiology , Retrospective Studies , Serologic TestsABSTRACT
Os autores apresentam os elementos que se acredita estarem envolvidos na etiopatogenia das Doenças Difusas do Tecido Conjuntivo. Demonstram a participaçäo de fatores imunológicos, constitucionais e exógenos e explicam os mecanismos fisiopatológicos detalhando aspectos da reaçäo inflamatória que produzem lesäo tecidual. Comprova-se que o substrato anatomopatológico (recrose fibrinóide) que reúne doenças com algumas características clínicas comuns näo participa de modo ativo na etiopatogênese mas elas permanecem interrelacionadas através do tripé defeito imune x constituiçäo genética x agentes externos. A apresentaçäo de variados antígenos nucleares relacionados com manifestaçöes clínicas específicas é sugerida como uma proposta futura para classificaçäo destas doenças