Medicine:Revesz syndrome
| Revesz syndrome | |
|---|---|
| Other names | Dyskeratosis congenita with bilateral exudative retinopathy [1] |
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| Revesz syndrome is inherited in an autosomal dominant manner | |
| Causes | Genetic |
Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure.[2] Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation,[3] ataxia due to cerebellar hypoplasia, and cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson syndrome.[4] It is a variant of dyskeratosis congenita.[5]
Cause
Revesz syndrome is a genetic disease thought to be caused by short telomeres. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12. There is no treatment for this disease yet.[citation needed]
Diagnosis
Epidemiology
Revesz syndrome has so far been observed only in children. There is not much information about the disease because of its low frequency in general population and under reporting of cases.[citation needed]
History
The syndrome is named after the author of the original case published in 1992.[6] The patient was a 6-month-old male from Sudan. At 7 months, the patient developed aplastic anemia, and subsequently died at 19 months. A second case was reported in 1994 in a young girl in Hungary. She had many of the same symptoms as the child in Sudan.[7] A third case, reported in Calicut, India, was that of a 5-year-old girl who also had additional features of retinal detachment and retinitis pigmentosa, which are unreported in this syndrome.[2]
See also
- List of cutaneous conditions
Footnotes
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Revesz syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088.
- ↑ 2.0 2.1 Arakkal, Riyaz; Najeeba R; Jayakrishnan MP; Mohamed Shiras PT; Ajith Kumar VT (September 2007). "Revesz syndrome". Indian Journal of Pediatrics 74 (9): 862–863. doi:10.1007/s12098-007-0155-2. PMID 17901676.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ OMIM #300240
- ↑ Scheinfield, MH; Lui YW (November 2007). "The neurological findings in case of Revesz syndrome". Pediatric Radiology 37 (11): 1166–70. doi:10.1007/s00247-007-0592-0. PMID 17874088.
- ↑ "Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?". J. Med. Genet. 29 (9): 673–675. 1992. doi:10.1136/jmg.29.9.673. PMID 1404302.
- ↑ Kajtar, P.; Mehes, K. (1994). "Bilateral Coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs.". Am. J. Med. Genet. 49 (4): 374–377. doi:10.1002/ajmg.1320490404. PMID 8160728.
References
- Online Mendelian Inheritance in Man (OMIM) 300240
- "Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?". J. Med. Genet. 29 (9): 673–5. September 1992. doi:10.1136/jmg.29.9.673. PMID 1404302.
- "Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs". Am. J. Med. Genet. 49 (4): 374–7. February 1994. doi:10.1002/ajmg.1320490404. PMID 8160728.
- "Revesz syndrome". Indian Journal of Pediatrics 74 (9): 862–3. September 2007. doi:10.1007/s12098-007-0155-2. PMID 17901676.
External links
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