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Tietz Syndrome
Hypopigmentation-Deafness Syndrome

Presentation

In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Costochondritis and Tietze's Syndrome In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Costochondritis [patient.info]

Redness (erythema) and warmth of the affected area may be present. The onset of pain may be gradual or sudden, and can vary in intensity. [rarediseases.org]

It may mimic a myocardial infarction, but the pain in Tietze syndrome is more localized and is not accompanied by any additional presenting symptoms. [radiopaedia.org]

The classical presentation of the disease process involves the following: Chest tightness sometimes is compared with the pain and sensation of a heart attack. [syndrome.org]

Signs and symptoms [ edit ] The main presentation of the syndrome is significant, acute pain in the chest, along with tenderness and some swelling of the cartilages affected, which is commonly palpable on examination. [en.wikipedia.org]

Skin

  • White Eyebrows

    Clinical description Affected cases have a pale skin, blue eyes and light blond to white hair with white eyebrows and eyelashes. They gradually gain some pigmentation often as freckles on sun-exposed areas. [orpha.net]

    eyebrow Pale eyebrow 0002226 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Bilateral sensorineural hearing impairment 0008619 Blue irides Blue eyes 0000635 Congenital sensorineural hearing [rarediseases.info.nih.gov]

Workup

Evaluation Tietze syndrome is a diagnosis of exclusion after a thorough workup of life-threatening or more common diseases has been completed. An electrocardiogram (ECG) should be performed on all patients that present with acute chest pain. [ncbi.nlm.nih.gov]

Treatment

Standard Therapies Treatment In some cases, pain associated with Tietze syndrome resolves itself without treatment. [rarediseases.org]

Treatment and prognosis It is a benign condition that may subside spontaneously. Some authors suggest local steroid injection as a possible treatment option 6. [radiopaedia.org]

The general treatment regimen for Tietze syndrome is: rest avoiding strenuous activities applying heat to the affected area In some cases, the pain may resolve on its own without treatment. [healthline.com]

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. [patient.info]

Treatment The symptoms of Tietze syndrome usually aren't serious and often will go away with no treatment. [webmd.com]

Prognosis

In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Costochondritis and Tietze's Syndrome In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Costochondritis [patient.info]

Treatment and prognosis It is a benign condition that may subside spontaneously. Some authors suggest local steroid injection as a possible treatment option 6. [radiopaedia.org]

Prognosis References Aeshilmann, A, Kahn MF (1990) Tietze's syndrome: a critical review. Clinical Experimental Rheumatology 8:407 Google Scholar Copyright information [link.springer.com]

What is the prognosis for costochondritis and Tietze syndrome? The outlook for costochondritis and Tietze syndrome is generally very good. Most patients respond well to conservative treatments. [medicinenet.com]

Prognosis In most mild to moderate cases, the pain will disappear in a few weeks but the swelling might last longer than the pain. [integratedpainmanagement.com]

Etiology

Etiology The syndrome is due to a missense mutation or in-frame deletion of one amino acid in the basic domain of the MITF (3p14-p13) gene, coding a basic helix-loop-helix (bHLH) leucine zipper transcription factor, regulating melanocyte development and [orpha.net]

The etiology and pathology of the disease are still unknown. In the past decade new knowledge concerning rheumatic diseases affecting the anterior chest wall has modified our approach to this condition. [ncbi.nlm.nih.gov]

Tietze’s syndrome, costochondral junction syndrome, costochondritis Tietze’s syndrome ICD-10 M94.0: Chondrocostal junction syndrome [Tietze] Tietze’s syndrome ICD-9 733.6 Tietze's disease costochondral junction syndrome, costochondritis Tietze’s syndrome Etiology [eorif.com]

Epidemiology Frequency United States The exact prevalence of a musculoskeletal etiology for chest pain is not known, although overall prevalence of a musculoskeletal etiology for chest pain was approximately 10% in one study. [emedicine.medscape.com]

Epidemiology

In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Costochondritis and Tietze's Syndrome In this article Epidemiology Presentation Differential diagnosis Investigations Management Prognosis Costochondritis [patient.info]

Summary Epidemiology Tietz syndrome has been reported in 7 families to date. Clinical description Affected cases have a pale skin, blue eyes and light blond to white hair with white eyebrows and eyelashes. [orpha.net]

[…] syndrome, costochondral junction syndrome, costochondritis Tietze’s syndrome ICD-10 M94.0: Chondrocostal junction syndrome [Tietze] Tietze’s syndrome ICD-9 733.6 Tietze's disease costochondral junction syndrome, costochondritis Tietze’s syndrome Etiology / Epidemiology [eorif.com]

Epidemiology Frequency United States The exact prevalence of a musculoskeletal etiology for chest pain is not known, although overall prevalence of a musculoskeletal etiology for chest pain was approximately 10% in one study. [emedicine.medscape.com]

Pathophysiology

It does not appear to be an inflammatory disorder, and although the pathophysiology is unkown, could result from injury to costosternal, sternoclavicular, or costochondral articulations from severe or protracted coughing. [link.springer.com]

Although the pathophysiology of Tietze Syndrome is poorly understood, it was previously thought to be associated with a viral infection aquired during cardio-thoracic surgery. [emergencymedicalparamedic.com]

Pathophysiology Costochondritis is an inflammatory process of the costochondral or costosternal joints that causes localized pain and tenderness. Any of the 7 costochondral junctions may be affected, and more than 1 site is affected in 90% of cases. [emedicine.medscape.com]

Rarely are those at the far ends of the age spectrum affected, but cases have been reported.[3][4][5] Pathophysiology Tietze syndrome is described as a localized, painful, swollen, non-pustular mass commonly without rubor or erythema. [ncbi.nlm.nih.gov]

Prevention

Is it possible to prevent costochondritis and Tietze syndrome? Costochondritis and Tietze syndrome cannot be prevented. Although aggravating the symptoms can be minimized by avoiding injury to the chest wall. [medicinenet.com]

Develop a thorough, clinically relevant understanding of interventions such as physical agents and therapeutic exercise in the prevention, diagnosis, treatment, and rehabilitation of disorders that produce pain, impairment, and disability. [books.google.com]

Prevention Because inflammatory costochondritis has no definite cause, there is no good way to prevent it. Outlook Noninfectious costochondritis will go away on its own, with or without antiinflammatory treatment. Most people will recover fully. [jenlynn401.wordpress.com]

Prevention This can be attained through avoiding the precipitating factors of the disease process. Stress should be lessened as well as injury to the chest area. The condition as mentioned above can only last for a few weeks. [syndrome.org]

Discusses physical agents and therapeutic exercise in the prevention, diagnosis, treatment and rehabilitation of disorders that produce pain, impairment, and disability. [books.google.es]

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