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2.1
Dermochondrocorneal Dystrophy
Francois Syndrome

Presentation

We perform a multidisciplinary assessment in order to contribute to the knowledge of the clinical presentation of this uncommon condition. Among the few documented patients, this is the third patient of Mexican ancestry reported with this syndrome. [ncbi.nlm.nih.gov]

Effusions and synovial thickening were present in both knees. [ped-rheum.biomedcentral.com]

Presents a detailed exposition of the growing number of techniques for lamellar keratoplasty, including outcomes. Includes new sections on the latest developments in the management of ocular surface disease. [books.google.de]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

The disease is not present at birth. Only by the end of 2 years does the disease become manifest. It is therefore developmental but not congenital. [ijo.in]

Skin

  • Xanthoma

    The most common xanthomatous disorders seen in childhood including xanthoma disseminatum, papular xanthoma, and benign cephalic histiocytosis are not associated with arthritis. [ped-rheum.biomedcentral.com]

    Differential Diagnosis of Xanthoma Disseminatum Most Likely · Chronic disseminated Langerhans cell histiocytosis · Tuberous xanthoma (hyperlipemic) · Papular xanthoma Consider · Juvenile xanthogranuloma · Generalized eruptive histiocytosis · Multicentric [dermaamin.com]

    Tuberous xanthomas: Yellow-orange nodules up to 2 cm in diameter, often located over knees and elbows in patients with hypercholesterolemia and other lipid abnormalities. All patients with tuberous xanthomas should have a lipid profile. [ximenawortsman.com]

    Clinical Features Francois (1949) observed 2 affected sibs with skeletal deformity of the hands and feet; xanthoma-like nodules on the pinnae, dorsal surface of the metacarpophalangeal and interphalangeal joints, posterior surface of the elbows, nose, [omim.org]

  • Calcinosis Cutis

    COTI - EXPERIENCIA CON LASER FRAXEL 1927 NM EN PACIENTES CHILENAS CON MELASMA COCC - ENFERMEDAD DE STILL ASOCIADA A KIKUCHI FUJIMOTO; RELACIÓN DESENCADENADA POR H1N1 COCC - LUPUS ERITEMATOSO CUTÁNEO DISCOIDE HIPERTROFICO ASOCIADO A CALCINOSIS CUTIS: UNA [hugepdf.com]

  • Larva Migrans

    PECC - RESPOSTA SATISFATÓRIA AO USO DO MICONAZOL NA TERAPÊUTICA DE LARVA MIGRANS CUTÂNEA. [hugepdf.com]

  • Flushing

    Skin changes (hyperpigmentation, hypertrichosis, glomeruloid hemangiomas, plethora, acrocyanosis, flushing, white nails) 10. Papilledema 11. [cram.com]

Workup

Because so many symptoms are associated with hunger disorders, it is powerful as people to arrange a complete real workup in the past being checked on these disorders. [widewallpapergallery.com]

Based on her presentation and the negative lipid workup, she was treated for presumed multicentric reticulohistiocytosis. Multiple treatment strategies were utilized, with improvement on a combination of infliximab, methotrexate, and prednisone. [ped-rheum.biomedcentral.com]

Their diagnoses were established by pediatric immunologists in accordance to ESID criteria, including routine immunological workup and specialized diagnostic assays. We divided patients by decade of diagnosis to analyze their survival curves. [cancerindex.org]

Treatment

Treatment Treatment Options: Corneal grafts could be visually beneficial but the vascularized pannus increases the risk of rejection. CO2 laser treatment can reduce the cutaneous chondromes. [disorders.eyes.arizona.edu]

After 10 years of unsuccessful treatment limited to scaling, oral hygiene control and mouth rinses with 0.2% chlorexidine solution, the patient was submitted to extraction of the remaining teeth, remodelling osteoplasty and cutaneous graft. [ncbi.nlm.nih.gov]

The Achilles tendon The achilles tendon : an atlas of surgical procedures The Achilles tendon : treatment and rehabilitation ACL handbook : knee biology, mechanics, and treatment ACL injuries in the female athlete : causes, impacts, and conditioning [sunzi.lib.hku.hk]

During the period 1980-1990, we treated the patient only with periodic scaling and mouth rinses of chlorexidi- ne 2X a day, as she refused to undergo other more complex dental treatments. [dev.docslide.net]

Prognosis

PMID: 458517 Prognosis Hidalgo-Bravo A, Acosta-Nieto ML, Normendez-Martinez MI, Rodriguez-Gonzalez NF, Paz-Gomez F, Valdes-Flores M, Kramis-Hollands M Am J Med Genet A 2016 Feb;170A(2):446-451. Epub 2015 Oct 5 doi: 10.1002/ajmg.a.37423. [ncbi.nlm.nih.gov]

The prognosis is favorable for cutaneous forms. The prognosis for MRH is related to the severity of the osteoarticular manifestations, the presence of visceral involvement, and underlying neoplasms if present. [dermaamin.com]

Prognosis It is not good. Patients usually die before the age of 20 years because of cardiac failure. Treatment No treatment is effective till now. [ijo.in]

A set of histopathological markers has been established to guide BCa diagnosis, prognosis and treatment. [cancerindex.org]

Etiology

Abnormality of the hand Abnormality of the eye Anterior cortical cataract Corneal dystrophy Subepithelial corneal opacities Abnormality of the integument Skin nodule Abnormality of the musculoskeletal system Irregular tarsal ossification Joint subluxation Etiology [ncbi.nlm.nih.gov]

Its probable etiology and differential diagnosis in brief are discussed References 1. Berliner, (1939) A.M.A. Arch of Ophth. 22, 97. 2. Bocker, E., (1939) Zeits. Kinder Heilk, 63,688. 3. Conies F. & Hogan .11. J.. (1942) A.M.A. [ijo.in]

2015, Proceedings Computational radiology for orthopaedic interventions The concise encyclopedia of fibromyalgia and myofascial pain A concise guide to orthopaedic and musculoskeletal impairment ratings Congenital anomalies of the upper extremity : etiology [sunzi.lib.hku.hk]

The etiology is unknown. Erythema induratum (nodular vasculitis) : Is considered a multifactorial syndrome of lobular panniculitis in which tuberculosis may be among the multiple causes. [ximenawortsman.com]

Epidemiology

Disorder Synonyms PPK Column* ICD-9 Selected Epidemiologic Features Genetic Cause Syndromic Associations Distinguishing features Age of onset (for disorder manifistation) Erythema Transgrediens Other Epidermal Features** Systemic Features*** Relevant [dermatologyadvisor.com]

The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate. [booktopia.com.au]

Epidemiological Aspects of Osteosarcoma, Giant Cell Tumor and Chondrosarcoma Musculoskeletal Tumors--Experience of the National Rehabilitation Institute, Mexico City. [cancerindex.org]

Pathophysiology

[…] practice Arthritis & arthroplasty, The foot and ankle Arthritis & arthroplasty, The hand, wrist and elbow Arthritis & arthroplasty, The hip Arthritis & arthroplasty, The knee Arthritis & arthroplasty, The shoulder Arthritis & rheumatism Arthritis : pathophysiology [sunzi.lib.hku.hk]

Prevention

IGE. 1 Departments of 1 Physiology, 2 Preventive Dentistry and 3 Oral Pathology, College of Medicine University of Ibadan, Ibadan [*] Author for Correspondence Received: December, 2002 Accepted in final form: May 2003 Code Number: md04027 A laboratory [bioline.org.br]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

PROGRESO Y SALUD FIMABIS-13001 Biodrugs/ Drugs Metabolic / Endocrinology Treatment and/or Prevention of Non-alcoholic fatty liver disease (NAFLD) 2 RP FIMABIS-13001 Therapeutic area: Metabolic / Endocrinology FUND. [pipelines.asebio.com]

and annotated research guide to Internet references Challenging cases in rheumatology and diseases of the immune system Charnley low-frictional torque arthroplasty of the hip : practice and results Chemical peels Chemical skin injury : mechanisms, prevention [sunzi.lib.hku.hk]

The Centers for Disease Control and Prevention definition of mucosal barrier injury-associated bloodstream infection improves accurate detection of preventable bacteremia rates at a pediatric cancer center in a low- to middle-income country. [cancerindex.org]

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