Revesz syndrome (RS) is a rare genetic disease. It is generally regarded in literature as a less commonly occurring, more severe, variant of dyskeratosis congenita (DC). Thus the former exhibit features that are typical of DC, such as abnormal nail formation, skin hyperpigmentation, and oral leukoplakia [1]. RS occurs as a result of genetic mutation, specifically in the TINF2 gene coding for a protein that is involved in telomere synthesis. The same gene has been found to be responsible for some forms of DC.

The phenotypic features of RS have not been fully delineated, as there is a small number of reported cases, amongst which there is great variation in clinical presentation [2] [3].

Features that are typical of RS include ocular and periorbital abnormalities such as lid deformities, exudative retinopathy, vitreous hemorrhage, corneal or vitreous opacification, and conjunctival scarring. These features manifest in childhood and may cause a decrease in visual acuity, or blindness. Within the central nervous system (CNS), patients with RS often show a hypoplastic cerebellum and cerebral calcifications. Some patients may present with ataxia [4].

Affected individuals have a high risk of developing malignant tumors and bone marrow failure. The latter may result in neutropenia, pancytopenia, and aplastic anemia, frequently appearing early in life. Additional features of RS include sparse hair, psychomotor retardation, and intrauterine growth restriction [5] [6].

• Fatigue

  The signs and symptoms of AML vary but may include easy bruising; bone pain or tenderness; fatigue; fever; frequent nosebleeds; bleeding from the gums; shortness of breath; … Eosinophilic Granulomatosis With Polyangiitis (EPGA) January 17, 2019 by Peter [checkrare.com]

  For example, Social Security has issued rulings stating that that chronic fatigue syndrome, post-polio sydrome and fibromyalgia can satisfy the requirement for a medically determinable impairment. The rulings set forth criteria for those diagnoses. [swaniganlaw.com]

  Some deaths are caused from Cachexia, also known as Wasting Syndrome, which manifests itself as loss of weight, muscle atrophy, fatigue, weakness and significant loss of appetite. [maria-online.com]

• Poor Growth

  Symptoms of Hoyeraal Hreidarsson syndrome include poor growth of the child during pregnancy, head size that is smaller than expected (microcephaly), the back of the brain is not fully formed (cerebellar hypoplasia), a poor immune system, failure of bone [diseaseinfosearch.org]

  Analysis of TIN2 protein in Patient 3's skin fibroblasts was not possible because of poor growth of the culture Plasmids TINF2 short isoform cDNA sequence derived from pLPC-N-FH2-TIN2 plasmid ( 17 ) (kindly provided by Titia De Lange, Rockefeller University [ncbi.nlm.nih.gov]

• Recurrent Inflammation

  Conjunctivitis Conjunctivitis, recurrent Inflammation of the conjunctiva. [rarediseases.oscar.ncsu.edu]

• Hypoxemia

  MRI imaging revealed cerebellar hypoplasia and periventricular white matter changes, at this time attributed to prenatal hypoxemia (Fig. 1). Due to recurrent seizures, an anticonvulsive treatment with levetiracetam and topiramate was initiated. [ojrd.biomedcentral.com]

• Crying

  Therefore, we propose that this bleeding event was most likely due to an increased intracerebral pressure during extensive crying, and perhaps fostered by an increased fragility of the intracerebral vessels. [ojrd.biomedcentral.com]

• Easy Bruising

  The signs and symptoms of AML vary but may include easy bruising; bone pain or tenderness; fatigue; fever; frequent nosebleeds; bleeding from the gums; shortness of breath; … Eosinophilic Granulomatosis With Polyangiitis (EPGA) January 17, 2019 by Peter [checkrare.com]

• Iridodonesis

  Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation [ncbi.nlm.nih.gov]

• Sparse Hair

  Other features of this syndrome include intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation [cags.org.ae]

  【關鍵詞】 revesz syndrome retinitis pigmentosa retinal detachment bone marrow failure syndromes revesz syndrome is a rare congenital disorder characterized by intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure [doc.qkzz.net]

  hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. [doaj.org]

  hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor retardation. [kegg.jp]

• Alopecia

  Contractures Dwarfism Mental Retardation Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental [rgd.mcw.edu]

  Dermatologic anomalies include: pectoral and axillary alopecia, absence of sweat glands and anhidrosis (9). [medichub.ro]

  NFKBIA STAT1 TBK1 TICAM1 TIRAP TLR3 TMC6 TMC8 TRAF3 TRAF3IP2 UNC93B1 BID13: Combined immunodeficiencies (60 Genes) Hay-Wells syndrome (ankyloblepharon-ectodermal dysplasia-clefting syndrome), 22q11.2 deletion syndrome, Activated PIK3-delta syndrome, Alopecia [bbrauncegat.com]

  Brown AC, Crounse RG, Winkelmann RK: Generalized hair-follicle hamartoma, associated with alopecia, aminoaciduria, and myasthenia gravis. Arch Dermatol 1969;99: 478–493. Rahman SB, Bhawan J: Lentigo. Int J Dermatol 1996;35:229–239. [karger.com]

  […] mouth) One feature of the classic triad plus two or more of the following [ Vulliamy et al 2006 ]: Epiphora (excessive watering of the eye[s]) Blepharitis (inflammation of the eyelids, often due to epiphora) Abnormal eyelashes Prematurely gray hair Alopecia [ncbi.nlm.nih.gov]

• Eczema

  Humphreys F, Spencer J, McLaren K, Tidman MJ: An histological and ultrastructural study of the ‘dirty neck’ appearance in atopic eczema. Clin Exp Dermatol 1996;21:17–19. Du Toit MJ, Jordaan HF: Pigmenting pityriasis alba. [karger.com]

  Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small and Puffy Hands and Feet, and Eczema [rgd.mcw.edu]

• Psychomotor Retardation

  Other features of this syndrome include intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation [cags.org.ae]

  fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. [doaj.org]

  fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor retardation. [kegg.jp]

  […] extensor hypertonia, progressive psychomotor retardation and apparent chromosome instability. [medical-dictionary.thefreedictionary.com]

• Cerebral Calcification

  Other features of this syndrome include intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation [cags.org.ae]

  calcification, cerebellar hypoplasia and psychomotor retardation. [doaj.org]

  Magnetic resonance imaging of the brain revealed multiple and diffuse abnormalities in both cerebral hemispheres, consistent with calcifications or hemosiderin deposits, and cerebellar hypoplasia. [scielo.br]

  calcification, and progressive psychomotor retardation. [kegg.jp]

The diagnosis of Revesz syndrome is reached via a combination of patient history, clinical findings, laboratory results, and genetic testing. It is important that the correct diagnosis of RS be made early, as the risk of developing malignancies, in those affected by the condition, is significant. Moreover, the aforementioned individuals may require and benefit from urgent treatment.

Molecular and genetic studies should be carried out to establish the presence of gene mutations indicative of RS, as well as abnormal telomere lengths [7]. Possible laboratory methods include PCR (polymerase chain reaction), Southern blot, flow cytometry, and fluorescence in situ hybridization (FISH) with immunostaining, [8] [9].

It has been observed that up to half of patients with DC have no observable genetic mutations. The possibility of the syndrome in such patients cannot be ruled out, however, as a diagnosis can be made based on the presence of clinical features consistent with the disease, in addition to molecular studies revealing short telomeres [10].

In older individuals, DC may present with increasingly diverse symptoms that may deviate from the common presentation [11]. The criteria for testing patients for DC or RS may depend on the protocol of a given health facility.

TL;DR: The principles of telomere length maintenance are described, and a current appraisal of the diagnosis, disease manifestations, treatment options, and molecular genetics of DC and related TBDs is provided. ...read moreread less Abstract: Dyskeratosis [typeset.io]

Treatment Treatment Options: Bone marrow failure may respond favorably to hematopoietic stem cell transplantation, at least for some time. Lifelong medical monitoring is required for the systemic and ocular disease. [disorders.eyes.arizona.edu]

There are only a few publications describing patients with Revesz syndrome who underwent ocular treatments for the retinal complications. [entokey.com]

Prompt referral to a hematologist expedites diagnosis and treatment. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. All rights reserved. [ncbi.nlm.nih.gov]

TREATMENT Treatment for this disorder is symptom specific and may require a multidisciplinary team of specialists. The treatment team would likely consist of a pediatrician, ophthalmologist, hematologist, dermatologist, and neurologist. [secure.ssa.gov]

The prognosis is guarded, primarily as a result of bone marrow failure. Infections, liver failure, and lung failure are among the more serious problems. Lifelong monitoring for cancer and systemic disease are important. [disorders.eyes.arizona.edu]

Prognosis - Revesz syndrome Not supplied. Treatment - Revesz syndrome Not supplied. Resources - Revesz syndrome Not supplied. [checkorphan.org]

The overall prognosis for individuals with this disease is guarded, primarily as a result of bone marrow failure, infections, liver failure and lung failure. [secure.ssa.gov]

General pathology > Genetic and developmental anomalies > Revesz syndrome MIM.268130 Tuesday 26 February 2008 Etiology TINF2 germline mutations in Revesz syndrome References Kajtar, P.; Mehes, K. : Bilateral Coats retinopathy associated with aplastic [humpath.com]

Synonyms Retinopathy-anemia-central nervous system anomalies syndrome Revesz-DeBuse syndrome Dyskeratosis congenita with bilateral exudative retinopathy Name in a foreign language - Inheritance Autosomal dominant CONTENT INFORMATION Textual description Etiology [retkebolesti.com]

The etiology of this disorder is uncertain. In severe cases, the proximal femur, femoral head and neck, and acetabulum are absent. [radiopaedia.org]

Etiology Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536 Niewisch MR, Savage SA Expert Rev Hematol 2019 Dec;12(12):1037-1052. Epub 2019 Sep 10 doi: 10.1080/17474086.2019.1662720. [ncbi.nlm.nih.gov]

(Etiology) Hoyeraal-Hreidarsson Syndrome is caused by mutations in the DCK1 gene (Xq28), encoding the nucleolar proteindyskerin which interacts with the human telomerase RNA complex Mutations in other genes involved in telomere maintenance may be associated [dovemed.com]

(October 2017) Epidemiology[edit] 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. [en.wikipedia.org]

Dyskeratosis congenita with bilateral exudative retinopathy Name in a foreign language - Inheritance Autosomal dominant CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology [retkebolesti.com]

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. [owlapps.net]

Epidemiology Revesz syndrome has been observed only in children. [wiki30.com]

Methods: To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical and epidemiological features of previously published RS cases. [pubmed.ncbi.nlm.nih.gov]

Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children. [books.google.com]

We report ophthalmic findings in twins with Revesz syndrome due to a previously unreported mutation in TINF2 and propose that phenotypic and molecular overlaps between DKC spectrum disorders and pediatric retinal vasculopathies may reflect a shared pathophysiologic [ncbi.nlm.nih.gov]

Pathophysiology The pathophysiology of Elejalde syndrome is not fully understood. [maurershapi.pro]

His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease. [books.google.es]

Prevention - Revesz syndrome Not supplied. Diagnosis - Revesz syndrome Not supplied. Prognosis - Revesz syndrome Not supplied. Treatment - Revesz syndrome Not supplied. Resources - Revesz syndrome Not supplied. [checkorphan.org]

In addition to preventing the merger of chromosomes, telomeres are needed to prevent the loss of genetic information each time a cell divides. [sciencedaily.com]

Medical Eligibility Before someone receives disability benefits from the Social Security Administration (SSA), their condition must be considered long-term and must prevent them from working or functioning at age-appropriate levels on their own. [disability-benefits-help.org]

Additional information This research was funded by the National Institutes of Health Grant R01 EY014685, the Lew Wasserman Award from Research to Prevent Blindness Inc., New York, NY, an unrestricted departmental grant from Research to Prevent Blindness [tandfonline.com]

The treatments measures may include the following: Use of moisturizing creams to prevent damage to the skin Good dental hygiene to help prevent early tooth loss. [dovemed.com]

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2. Revesz T, Fletcher S, al-Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet. 1992;29(9):673-675.
3. Kajtár P, Méhes K. Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs. Am J Med Genet. 1994;49(4):374-377.
4. Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012;81(5):470-478.
5. Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS. Revesz syndrome. Indian J Pediatr. 2007;74(9):862-863.
6. Scheinfeld MH, Lui YW, Kolb EA, et al. The neuroradiological findings in a case of Revesz syndrome. Pediatr Radiol. 2007;37(11):1166-1170.
7. Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev. 2008;129(12):35–47.
8. Baird DM. New developments in telomere length analysis. Exp Gerontol.May;40(5):363-368.
9. Lin KW, Yan J. The telomere length dynamic and methods of its assessment. J Cell Mol Med. 2005;9(4):977–989.
10. Rosenberg P, Giri N, Savage SA, Alter BP. Cancer Epidemiology in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort: First Report. Blood. 2008;112(11):40.
11. Dokal I, Vulliamy T, Mason P, Bessler M. Clinical utility gene card for: dyskeratosis congenita. Eur J Hum Genet. 2011;19(11).