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Dacryocystitis-osteopoikilosis syndrome

MedGen UID:
318939
Concept ID:
C1833698
Disease or Syndrome
Synonyms: Dacryocystitis osteopoikilosis; Gunal Seber Basaran syndrome; Osteopoikilosis and dacryocystitis
SNOMED CT: Dacryocystitis and osteopoikilosis syndrome (721082002); Gunal Seber Basaran syndrome (721082002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0008158
OMIM®: 166705
Orphanet: ORPHA1562

Definition

An exceedingly rare autosomal dominant disorder reported in only a few patients to date with characteristics of dacryocystitis due to lacrimal canal stenosis and osteopoikilosis (demonstrated radiologically as discrete spherical osteosclerotic lesions of 2-10 mm in diameter). [from SNOMEDCT_US]

Clinical features

From HPO
Osteopoikilosis
MedGen UID:
45251
Concept ID:
C0029455
Finding
Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.
Dacryocystitis
MedGen UID:
3686
Concept ID:
C0010930
Disease or Syndrome
Inflammation of the nasolacrimal sac.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDacryocystitis-osteopoikilosis syndrome
Follow this link to review classifications for Dacryocystitis-osteopoikilosis syndrome in Orphanet.

Professional guidelines

PubMed

Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article
Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125
Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, Derksen RH, DE Groot PG, Koike T, Meroni PL, Reber G, Shoenfeld Y, Tincani A, Vlachoyiannopoulos PG, Krilis SA
J Thromb Haemost 2006 Feb;4(2):295-306. doi: 10.1111/j.1538-7836.2006.01753.x. PMID: 16420554

Recent clinical studies

Etiology

Varagur K, Sanka SA, Strahle JM
Neurosurg Clin N Am 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. PMID: 34801143Free PMC Article
Keith KA, Reed LK, Nguyen A, Qaiser R
Neurosurg Clin N Am 2022 Jan;33(1):135-148. doi: 10.1016/j.nec.2021.09.010. PMID: 34801137
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Poh TY, Mac Aogáin M, Chan AK, Yii AC, Yong VF, Tiew PY, Koh MS, Chotirmall SH
Expert Rev Respir Med 2017 Apr;11(4):285-298. Epub 2017 Mar 24 doi: 10.1080/17476348.2017.1305895. PMID: 28282995
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Koster MJ, Samec MJ, Warrington KJ
J Clin Rheumatol 2023 Sep 1;29(6):298-306. Epub 2022 Oct 17 doi: 10.1097/RHU.0000000000001905. PMID: 36251488
Oh J
Continuum (Minneap Minn) 2022 Aug 1;28(4):1006-1024. doi: 10.1212/CON.0000000000001156. PMID: 35938655
Keith KA, Reed LK, Nguyen A, Qaiser R
Neurosurg Clin N Am 2022 Jan;33(1):135-148. doi: 10.1016/j.nec.2021.09.010. PMID: 34801137
De Wel B, Claeys KG
Curr Opin Neurol 2021 Oct 1;34(5):714-720. doi: 10.1097/WCO.0000000000000963. PMID: 34914668
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J
Acta Ophthalmol 2020 Dec;98(8):e1034-e1048. Epub 2020 Jun 1 doi: 10.1111/aos.14479. PMID: 32483926Free PMC Article

Therapy

Dou Z, Xia Y, Zhang J, Li Y, Zhang Y, Zhao L, Huang Z, Sun H, Wu L, Han D, Liu Y
Front Endocrinol (Lausanne) 2021;12:728032. Epub 2021 Dec 23 doi: 10.3389/fendo.2021.728032. PMID: 35002950Free PMC Article
Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
Kagan R, Kellogg-Spadt S, Parish SJ
Drugs Aging 2019 Oct;36(10):897-908. doi: 10.1007/s40266-019-00700-w. PMID: 31452067Free PMC Article
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article

Prognosis

Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I
Clin Genet 2023 Apr;103(4):453-458. Epub 2022 Dec 30 doi: 10.1111/cge.14286. PMID: 36543582
Košutova P, Mikolka P
Physiol Res 2021 Dec 30;70(Suppl4):S567-S583. doi: 10.33549/physiolres.934767. PMID: 35199544Free PMC Article
Cristescu Teodor R, Mihaltan FD
Rom J Ophthalmol 2019 Jan-Mar;63(1):2-9. PMID: 31198891Free PMC Article
Park CY, Lee JK, Chuck RS
BMC Ophthalmol 2018 Oct 25;18(1):276. doi: 10.1186/s12886-018-0939-3. PMID: 30359246Free PMC Article
Damgaard Sandahl T
Dan Med J 2014 Oct;61(10):B4755. PMID: 25283626

Clinical prediction guides

Robles Bayón A
Neurologia (Engl Ed) 2022 Jul-Aug;37(6):480-491. Epub 2021 May 25 doi: 10.1016/j.nrleng.2019.03.027. PMID: 35779868
Boßelmann CM
Seizure 2021 Nov;92:230-233. Epub 2021 Sep 27 doi: 10.1016/j.seizure.2021.09.019. PMID: 34607271
Nazerian P, Mueller C, Soeiro AM, Leidel BA, Salvadeo SAT, Giachino F, Vanni S, Grimm K, Oliveira MT Jr, Pivetta E, Lupia E, Grifoni S, Morello F; ADvISED Investigators
Circulation 2018 Jan 16;137(3):250-258. Epub 2017 Oct 13 doi: 10.1161/CIRCULATIONAHA.117.029457. PMID: 29030346
Wijdicks EF, Bamlet WR, Maramattom BV, Manno EM, McClelland RL
Ann Neurol 2005 Oct;58(4):585-93. doi: 10.1002/ana.20611. PMID: 16178024
Frolkis VV
Gerontology 1992;38(1-2):80-6. doi: 10.1159/000213310. PMID: 1612465

Recent systematic reviews

Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article
Sorensen CJ, DeSanto K, Borgelt L, Phillips KT, Monte AA
J Med Toxicol 2017 Mar;13(1):71-87. Epub 2016 Dec 20 doi: 10.1007/s13181-016-0595-z. PMID: 28000146Free PMC Article
Fhon JR, Rodrigues RA, Neira WF, Huayta VM, Robazzi ML
Rev Esc Enferm USP 2016 Nov-Dec;50(6):1005-1013. doi: 10.1590/S0080-623420160000700018. PMID: 28198967
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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