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Tietz Syndrome

Hypopigmentation-Deafness Syndrome


Presentation

  • Epidemiology [ 1, 2 ] Chest pain accounts for 1-2% of consultations in primary care, in which setting a cardiac cause is significantly less likely than in presentations to emergency departments [ 3 ].[patient.info]
  • 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]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Although cochlear melanocytes are present at birth, they disappear from the Mitf(Mi-wh) / cochlea between P1 and P7.[ncbi.nlm.nih.gov]
  • The hearing loss is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Individuals with Tietz syndrome often have skin and hair color that is lighter than those of other family members.[en.wikipedia.org]
Loss of Hair
  • People with Tietz syndrome are born with white hair and very pale skin but their hair color often darkens over time; The colored part of the eye (the iris) is blue. 0000365 Hypopigmentation of hair Loss of hair color 0005599 Hypopigmentation of the skin[rarediseases.info.nih.gov]
Pleuritic Pain
  • Pericarditis - pleuritic pain, pericardial rub, ECG changes. Heart failure - breathlessness, basal crepitations, elevated jugular venous pressure (JVP). Pneumonia - cough, fever, chest signs.[patient.info]
Hearing Impairment
  • impairment 0008619 Blue irides Blue eyes 0000635 Congenital sensorineural hearing impairment 0008527 Generalized hypopigmentation Fair skin Pale pigmentation [1] Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions[rarediseases.info.nih.gov]
Retinal Pigmentation
  • Additionally, the MITF protein regulates the development of the retinal pigment epithelium.[ghr.nlm.nih.gov]
  • The iris in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment.[en.wikipedia.org]
  • Both had lack of retinal pigmentation. Although the degree of hypopigmentation is not identical to the phenotype in the present family, this phenotype was felt by the authors to be closest to Tietz syndrome.[dx.doi.org]
Blue Eyes
  • 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]
  • […] of the skin Patchy lightened skin 0001010 White 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[rarediseases.info.nih.gov]
  • All affected subjects have blue eyes and ophthalmological examination showed hypopigmented fundi, but there is no nystagmus or other visual problems and no heterochromia irides.[dx.doi.org]
Small Eyes
  • Mutations of this gene produce a range of phenotypes including white spotting or pigmentary dilution, inner ear abnormalities, bone resorption problems, and small eyes. 14 In mice, there are three mi mutations in the basic region which are inherited in[dx.doi.org]
Freckles
  • They gradually gain some pigmentation often as freckles on sun-exposed areas. Hearing loss is always bilateral, congenital, sensorineural and profound. Psychomotor development is normal.[orpha.net]
  • The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family.[ghr.nlm.nih.gov]
  • They may have reddish freckles and some subjects reported they can even tan slightly with very careful exposure to sun.[dx.doi.org]
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]
  • They gradually gain some pigmentation and have fair skin and blonde to white hair as adults with white eyebrows and eyelashes. They may have reddish freckles and some subjects reported they can even tan slightly with very careful exposure to sun.[dx.doi.org]
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]
  • They gradually gain some pigmentation and have fair skin and blonde to white hair as adults with white eyebrows and eyelashes. They may have reddish freckles and some subjects reported they can even tan slightly with very careful exposure to sun.[dx.doi.org]
White Eyelashes and Eyebrows
  • They described themselves as having profound congenital deafness along with blonde hair and white eyelashes and eyebrows, transmitted through at least seven generations.[dx.doi.org]
Blonde Hair
  • They described themselves as having profound congenital deafness along with blonde hair and white eyelashes and eyebrows, transmitted through at least seven generations.[dx.doi.org]

Treatment

  • Standard Therapies Treatment In some cases, pain associated with Tietze syndrome resolves itself without treatment.[rarediseases.org]
  • The standard treatment for Tietze’s syndrome is rest. However, Tietze’s syndrome can become a chronic condition lasting years, and rest is not always possible. More and more treatments are becoming available for sufferers.[scienceblog.com]
  • Treatment As no real treatment has been found yet for the condition, the treatment is often aimed at reducing the pain. Patients are therefore prescribed analgesics or anti-inflammatories.[physiocheck.co.uk]
  • Tietze Syndrome Treatment Many experts agree that a full treatment of the syndrome Tietze is only possible with the help of surgery.[noillen.bitballoon.com]
  • Treatment [ edit ] After medical assessment and confirmation of no immediate cardiology events, especially heart attack, normal treatment includes rest by reducing activities affecting the chest.[en.wikipedia.org]

Prognosis

  • 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]
  • 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]
  • 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 [ 1, 2 ] Costochondritis: the course is variable but symptoms usually resolve within weeks to months, with symptoms resolved within a year in the majority.[patient.info]
  • 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]
  • […] costochondral junction syndrome and costochondritis ICD-10 Code M94.0 Chondrocostal junction syndrome (Tietze) Definition Tietze syndrome is a benign, self-limited, nonsuppurative localized painful swelling of the upper costal cartilages of unknown etiology[clinicalgate.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

  • 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 [ 1, 2 ] Chest pain accounts for 1-2% of consultations in primary care, in which setting a cardiac cause is significantly less likely than in presentations to emergency departments [ 3 ].[patient.info]
  • 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]
Sex distribution
Age distribution

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]

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 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]
  • 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]
  • 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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