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Thumb Deformity - Alopecia - Pigmentation Anomaly Syndrome


Presentation

  • Clinical presentation Patients most commonly present with a classic triad of: d...[radiopaedia.org]
  • Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case . Gene. 2013 Dec 27. [Epub ahead of print].[disorders.eyes.arizona.edu]
  • The carcinoid syndrome (see Chap. 77) may present as intense flushing of the face; a chronic cyanotic hue and telangiectasia may be present.[arthritisresearch.us]
  • Loose-jointedness and general bruisability and cutaneous fragility were not present ...[ibis-birthdefects.org]
  • Melanonychia usually presents like pigmented strap lined up lengthwise along the nail, so this appearance is called longitudinal melanonychia. Melanonychia has an effect on females and males equally.[remedyland.com]
Feeding Difficulties
  • Infancy: length usually close to and parallel to the 3rd centile, feeding difficulties with poor weight gain, poor sleeping pattern.[patient.info]
Absent Kidney
  • Absent kidney. Malrotation. Horseshoe kidneys. Silent hydronephrosis. Gonadal dysgenesis/failure Many have fibrotic ovarian streaks at the time of birth.[patient.info]

Treatment

  • The precise treatment is decided on an individual basis. Many people with mild symptoms may need no treatment or only intermittent courses of anti-inflammatory medications.[medicinenet.com]
  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • Frequent clipping of the nail increases the response to treatment.[merckmanuals.com]
  • Melanonychia as a result of drug treatments A few drug treatments might stimulate nail matrix melanocytes to create melanin, producing a band of melanonychia varying in shade from light brown to black color.[remedyland.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Melanonychia treatment and prognosis Melanonychia is treatable. But, it very much relies upon what is the reason for the melanonychia. As pointed out above, many of these problems are really treatable.[remedyland.com]
  • Prognosis The overall prognosis is good. Patients are usually shorter than average (even with growth hormone therapy) and almost all are infertile (although assisted fertility may be successful).[patient.info]
  • The prognosis for Type 2 patients is poor, with a high likelihood of neurologic problems and early death.[craniokids.co.za]
  • Prognosis The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis.[medical-dictionary.thefreedictionary.com]
  • Acute spinal cord ischemia syndrome (ASCIS) is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor.[radiopaedia.org]

Etiology

  • Mutations in ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes have been implicated in the etiology of the disease ... unifying theme is that they all (directly or indirectly) adversely affect collagen synthesis ... presentation for[ibis-birthdefects.org]
  • The etiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posterio... Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain.[radiopaedia.org]
  • This visual approach is of great advantage in seeking clues to the etiology of cardiovascular disease.[arthritisresearch.us]

Epidemiology

  • Epidemiology [ 2 ] Turner syndrome occurs in approximately 1 in every 2,000 live female births. The condition is much more common in utero and it has been estimated that 1-2% of all conceptuses are affected, of whom only 1% will survive to term.[patient.info]
  • Epidemiology 1996;7:384-90. [ PUBMED ] [ FULLTEXT ] 7. Satia JA, King IB, Morris JS, Stratton K, White E. Toenail and plasma levels as biomarkers of selenium exposure. Ann Epidemiol 2006;16:53-8. [ PUBMED ] [ FULLTEXT ] 8.[ijdvl.com]
Sex distribution
Age distribution

Prevention

  • Moreover, the effect seemed independent of immune suppression, implying that Plaquenil can directly act to prevent the blood clots.[medicinenet.com]
  • Antibiotic prophylaxis to prevent subacute bacterial endocarditis is now less likely to be necessary (see the separate article on Prevention of Endocarditis ). Orthopaedics: regular review is usually unnecessary.[patient.info]
  • To prevent nail problems: DO NOT bite, pick, or tear at your nails (in severe cases, some people may need counseling or encouragement to stop these behaviors). Keep hangnails clipped.[medlineplus.gov]
  • Possessing a comprehensive understanding of the different causes of melanonychia and with the use of a methodical approach when examining nail pigmentation could help prevent misdiagnosis and as a result improve medical prognosis.[remedyland.com]

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