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Lacrimation abnormality

MedGen UID:
867427
Concept ID:
C4021801
Anatomical Abnormality
Synonym: Abnormality of tear production
 
HPO: HP:0000632

Definition

Abnormality of tear production. [from HPO]

Conditions with this feature

Paroxysmal extreme pain disorder
MedGen UID:
331565
Concept ID:
C1833661
Disease or Syndrome
SCN9A neuropathic pain syndromes (SCN9A-NPS) comprise SCN9A erythromelalgia (EM), SCN9A paroxysmal extreme pain disorder (PEPD), and SCN9A small fiber neuropathy (SFN). SCN9A-EM is characterized by recurrent episodes of bilateral intense, burning pain, and redness, warmth, and occasionally swelling. While the feet are more commonly affected than the hands, in severely affected individuals the legs, arms, face, and/or ears may be involved. SCN9A-PEPD is characterized by neonatal or infantile onset of autonomic manifestations that can include skin flushing, harlequin (patchy or asymmetric) color change, tonic non-epileptic attacks (stiffening), and syncope with bradycardia. Later manifestations are episodes of excruciating deep burning rectal, ocular, or submandibular pain accompanied by flushing (erythematous skin changes). SCN9A-SFN is characterized by adult-onset neuropathic pain in a stocking and glove distribution, often with a burning quality; autonomic manifestations such as dry eyes, mouth, orthostatic dizziness, palpitations, bowel or bladder disturbances; and preservation of large nerve fiber functions (normal strength, tendon reflexes, and vibration sense).
Indifference to pain, congenital, autosomal dominant
MedGen UID:
1613569
Concept ID:
C4538468
Disease or Syndrome
Marsili syndrome (MARSIS) is an autosomal dominant pain insensitivity disorder characterized by a lowered ability to sense pain, to experience temperature, and to sweat. Affected individuals do not perceive broken bones and burns as painful, and have lowered sensitivity to capsaicin. However, visceral pain (e.g., childbirth-related) and light touch are perceived (summary by Habib et al., 2018).
Branchiootorenal syndrome 1
MedGen UID:
1632634
Concept ID:
C4551702
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.

Professional guidelines

PubMed

Fox RI, Fox CM, Gottenberg JE, Dörner T
Rheumatology (Oxford) 2021 May 14;60(5):2066-2074. doi: 10.1093/rheumatology/kez142. PMID: 31034046
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Jonsson R, Brokstad KA, Jonsson MV, Delaleu N, Skarstein K
Eur J Oral Sci 2018 Oct;126 Suppl 1(Suppl Suppl 1):37-48. doi: 10.1111/eos.12536. PMID: 30178554Free PMC Article

Recent clinical studies

Etiology

Kumar NR, Praveen M, Narasimhan R, Khamar P, D'Souza S, Sinha-Roy A, Sethu S, Shetty R, Ghosh A
Indian J Ophthalmol 2023 Apr;71(4):1190-1202. doi: 10.4103/IJO.IJO_2981_22. PMID: 37026250Free PMC Article
Chaudhary S, Ghimire D, Basu S, Agrawal V, Jacobs DS, Shanbhag SS
Indian J Ophthalmol 2023 Apr;71(4):1142-1153. doi: 10.4103/IJO.IJO_2778_22. PMID: 37026246Free PMC Article
Savage SA
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. PMID: 36485133Free PMC Article
Jonsson R, Brokstad KA, Jonsson MV, Delaleu N, Skarstein K
Eur J Oral Sci 2018 Oct;126 Suppl 1(Suppl Suppl 1):37-48. doi: 10.1111/eos.12536. PMID: 30178554Free PMC Article
Brito-Zerón P, Baldini C, Bootsma H, Bowman SJ, Jonsson R, Mariette X, Sivils K, Theander E, Tzioufas A, Ramos-Casals M
Nat Rev Dis Primers 2016 Jul 7;2:16047. doi: 10.1038/nrdp.2016.47. PMID: 27383445

Diagnosis

Zhao Z, Allen RC
Orbit 2022 Apr;41(2):162-169. Epub 2021 Sep 5 doi: 10.1080/01676830.2021.1974057. PMID: 34486478
Lee JM, Baek JS
Korean J Ophthalmol 2021 Oct;35(5):349-354. Epub 2021 Jul 8 doi: 10.3341/kjo.2021.0069. PMID: 34237206Free PMC Article
Örge FH, Boente CS
Pediatr Clin North Am 2014 Jun;61(3):529-39. doi: 10.1016/j.pcl.2014.03.002. PMID: 24852150
Semeraro F, Forbice E, Romano V, Angi M, Romano MR, Filippelli ME, Di Iorio R, Costagliola C
Ophthalmologica 2014;231(4):191-7. Epub 2013 Oct 2 doi: 10.1159/000354380. PMID: 24107451
Raveh E, Papsin BC, Forte V
Int J Pediatr Otorhinolaryngol 2000 Jun 30;53(2):149-56. doi: 10.1016/s0165-5876(00)00310-4. PMID: 10906521

Therapy

Kumar NR, Praveen M, Narasimhan R, Khamar P, D'Souza S, Sinha-Roy A, Sethu S, Shetty R, Ghosh A
Indian J Ophthalmol 2023 Apr;71(4):1190-1202. doi: 10.4103/IJO.IJO_2981_22. PMID: 37026250Free PMC Article
Rolando M, Barabino S
Int J Mol Sci 2023 Jan 11;24(2) doi: 10.3390/ijms24021458. PMID: 36674972Free PMC Article
Fox RI, Fox CM, Gottenberg JE, Dörner T
Rheumatology (Oxford) 2021 May 14;60(5):2066-2074. doi: 10.1093/rheumatology/kez142. PMID: 31034046
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Roussos AP, Hirsch AR
Headache 2014 Feb;54(2):378-82. Epub 2013 Apr 1 doi: 10.1111/head.12091. PMID: 23551212

Prognosis

Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Gilchrist JM
Semin Neurol 2009 Feb;29(1):5-13. Epub 2009 Feb 12 doi: 10.1055/s-0028-1124018. PMID: 19214928
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859

Clinical prediction guides

van Ginkel MS, Arends S, van der Vegt B, Nijland M, Spijkervet FKL, Vissink A, Kroese FGM, Glaudemans AWJM, Bootsma H
Rheumatology (Oxford) 2023 Oct 3;62(10):3323-3331. doi: 10.1093/rheumatology/kead071. PMID: 36759907Free PMC Article
Custer PL, Ho TC, Boulos F
Ophthalmic Plast Reconstr Surg 2023 Jan-Feb 01;39(1):58-63. Epub 2022 Jul 4 doi: 10.1097/IOP.0000000000002241. PMID: 35793665
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Brito-Zerón P, Baldini C, Bootsma H, Bowman SJ, Jonsson R, Mariette X, Sivils K, Theander E, Tzioufas A, Ramos-Casals M
Nat Rev Dis Primers 2016 Jul 7;2:16047. doi: 10.1038/nrdp.2016.47. PMID: 27383445
Bhatti MT
Semin Neurol 2007 Jul;27(3):269-87. doi: 10.1055/s-2007-979685. PMID: 17577868

Recent systematic reviews

Eshraghi B, Babaei L, Moradi M, Chaibakhsh S, Aghajani A
Graefes Arch Clin Exp Ophthalmol 2024 Jul;262(7):1993-2004. Epub 2023 Dec 7 doi: 10.1007/s00417-023-06318-4. PMID: 38059998
Bzdega K, Karolak JA
PeerJ 2022;10:e14003. Epub 2022 Sep 14 doi: 10.7717/peerj.14003. PMID: 36124135Free PMC Article
Grange L, Chalayer E, Boutboul D, Paul S, Galicier L, Gramont B, Killian M
Autoimmun Rev 2022 Aug;21(8):103137. Epub 2022 Jul 6 doi: 10.1016/j.autrev.2022.103137. PMID: 35803499
Zhao J, An Q, Zhu X, Yang B, Gao X, Niu Y, Zhang L, Xu K, Ma D
Stem Cell Res Ther 2022 Jun 3;13(1):230. doi: 10.1186/s13287-022-02912-1. PMID: 35659085Free PMC Article
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023

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