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Punctate keratitis

MedGen UID:
736733
Concept ID:
C1562761
Disease or Syndrome
Synonyms: punctate epithelial keratoconjunctivitis; punctate keratitis; Thygeson superficial punctate keratitis; Thygeson's superficial punctate keratitis
 
HPO: HP:0011859
Monarch Initiative: MONDO:0001466

Definition

A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPunctate keratitis

Conditions with this feature

Pearson syndrome
MedGen UID:
87459
Concept ID:
C0342784
Disease or Syndrome
Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome.
Ichthyosis, hystrix-like, with hearing loss
MedGen UID:
355410
Concept ID:
C1865234
Disease or Syndrome
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.\n\nNewborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.
Epidermolysis bullosa simplex 5B, with muscular dystrophy
MedGen UID:
418981
Concept ID:
C2931072
Disease or Syndrome
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.
Autoinflammation with arthritis and dyskeratosis
MedGen UID:
1380109
Concept ID:
C4479278
Disease or Syndrome
Autoinflammation with arthritis and dyskeratosis (AIADK) is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Professional guidelines

PubMed

Morales-Mancillas NR, Velazquez-Valenzuela F, Kinoshita S, Suzuki T, Dahlmann-Noor AH, Dart JKG, Hingorani M, Ali A, Fung S, Akova YA, Doan S, Gupta N, Hammersmith KM, Tan DTH, Paez-Garza JH, Rodriguez-Garcia A
JAMA Ophthalmol 2024 Jan 1;142(1):39-47. doi: 10.1001/jamaophthalmol.2023.5750. PMID: 38127333Free PMC Article
Mohanty A, Mitra S, Mallick A, Barik MR, Das S, Priyadarshini S, Sahu SK
Indian J Ophthalmol 2021 Jun;69(6):1537-1543. doi: 10.4103/ijo.IJO_1971_20. PMID: 34011737Free PMC Article
Rachmiel R, Leiba H, Levartovsky S
Br J Ophthalmol 1995 Mar;79(3):233-6. doi: 10.1136/bjo.79.3.233. PMID: 7703200Free PMC Article

Recent clinical studies

Etiology

Kourukmas R, Roth M, Geerling G
Graefes Arch Clin Exp Ophthalmol 2022 Aug;260(8):2605-2612. Epub 2022 Mar 31 doi: 10.1007/s00417-022-05574-0. PMID: 35357547Free PMC Article
Mandal N, Yeung SN, Tadrous C, Iovieno A
Graefes Arch Clin Exp Ophthalmol 2022 Jun;260(6):1837-1841. Epub 2022 Mar 12 doi: 10.1007/s00417-022-05617-6. PMID: 35286434
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Mohanty A, Mitra S, Mallick A, Barik MR, Das S, Priyadarshini S, Sahu SK
Indian J Ophthalmol 2021 Jun;69(6):1537-1543. doi: 10.4103/ijo.IJO_1971_20. PMID: 34011737Free PMC Article
Voss K, Nguyen A, Heur M
Exp Eye Res 2021 Jan;202:108316. Epub 2020 Oct 21 doi: 10.1016/j.exer.2020.108316. PMID: 33098887

Diagnosis

Mandal N, Yeung SN, Tadrous C, Iovieno A
Graefes Arch Clin Exp Ophthalmol 2022 Jun;260(6):1837-1841. Epub 2022 Mar 12 doi: 10.1007/s00417-022-05617-6. PMID: 35286434
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Mohanty A, Mitra S, Mallick A, Barik MR, Das S, Priyadarshini S, Sahu SK
Indian J Ophthalmol 2021 Jun;69(6):1537-1543. doi: 10.4103/ijo.IJO_1971_20. PMID: 34011737Free PMC Article
Voss K, Nguyen A, Heur M
Exp Eye Res 2021 Jan;202:108316. Epub 2020 Oct 21 doi: 10.1016/j.exer.2020.108316. PMID: 33098887
Tan N, Thaung C, Tuft S
Cornea 2020 Aug;39(8):1052-1054. doi: 10.1097/ICO.0000000000002285. PMID: 32073455

Therapy

Kourukmas R, Roth M, Geerling G
Graefes Arch Clin Exp Ophthalmol 2022 Aug;260(8):2605-2612. Epub 2022 Mar 31 doi: 10.1007/s00417-022-05574-0. PMID: 35357547Free PMC Article
Mandal N, Yeung SN, Tadrous C, Iovieno A
Graefes Arch Clin Exp Ophthalmol 2022 Jun;260(6):1837-1841. Epub 2022 Mar 12 doi: 10.1007/s00417-022-05617-6. PMID: 35286434
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Tan N, Thaung C, Tuft S
Cornea 2020 Aug;39(8):1052-1054. doi: 10.1097/ICO.0000000000002285. PMID: 32073455
Moore KN, Borghaei H, O'Malley DM, Jeong W, Seward SM, Bauer TM, Perez RP, Matulonis UA, Running KL, Zhang X, Ponte JF, Ruiz-Soto R, Birrer MJ
Cancer 2017 Aug 15;123(16):3080-3087. Epub 2017 Apr 25 doi: 10.1002/cncr.30736. PMID: 28440955Free PMC Article

Prognosis

Wang L, Zhang Y, Wei Z, Cao K, Su G, Hamrah P, Labbe A, Liang Q
Transl Vis Sci Technol 2021 Sep 1;10(11):11. doi: 10.1167/tvst.10.11.11. PMID: 34495329Free PMC Article
Voss K, Nguyen A, Heur M
Exp Eye Res 2021 Jan;202:108316. Epub 2020 Oct 21 doi: 10.1016/j.exer.2020.108316. PMID: 33098887
Tan N, Thaung C, Tuft S
Cornea 2020 Aug;39(8):1052-1054. doi: 10.1097/ICO.0000000000002285. PMID: 32073455
Mimura T, Yamagami S, Mori M, Funatsu H, Usui T, Noma H, Amano S
Am J Ophthalmol 2010 Nov;150(5):656-665.e1. Epub 2010 Aug 14 doi: 10.1016/j.ajo.2010.05.028. PMID: 20709310
Mimura T, Usui T, Yamamoto H, Yamagami S, Funatsu H, Noma H, Honda N, Fukuoka S, Amano S
Am J Ophthalmol 2009 Jul;148(1):20-5.e1. Epub 2009 Apr 29 doi: 10.1016/j.ajo.2009.02.018. PMID: 19403112

Clinical prediction guides

Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Wang L, Zhang Y, Wei Z, Cao K, Su G, Hamrah P, Labbe A, Liang Q
Transl Vis Sci Technol 2021 Sep 1;10(11):11. doi: 10.1167/tvst.10.11.11. PMID: 34495329Free PMC Article
Inatani M, Higashide T, Matsushita K, Miki A, Ueki M, Iwamoto Y, Kobayashi M, Leal S; VEGA Investigators
Adv Ther 2021 Feb;38(2):1116-1129. Epub 2020 Dec 16 doi: 10.1007/s12325-020-01579-5. PMID: 33330958Free PMC Article
Moore KN, Borghaei H, O'Malley DM, Jeong W, Seward SM, Bauer TM, Perez RP, Matulonis UA, Running KL, Zhang X, Ponte JF, Ruiz-Soto R, Birrer MJ
Cancer 2017 Aug 15;123(16):3080-3087. Epub 2017 Apr 25 doi: 10.1002/cncr.30736. PMID: 28440955Free PMC Article
Lambiase A, Sacchetti M, Mastropasqua A, Bonini S
JAMA Ophthalmol 2013 Dec;131(12):1547-53. doi: 10.1001/jamaophthalmol.2013.5064. PMID: 24158681

Recent systematic reviews

Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Rasmussen MLR, Schou MG, Bach-Holm D, Heegaard S, Jørgensen CAB, Kessel L, Wiencke AK, Subhi Y
Acta Ophthalmol 2022 Feb;100(1):35-44. Epub 2021 Mar 28 doi: 10.1111/aos.14858. PMID: 33779061
Abegunde AT, Ahuja RM, Okafor NJ
Cochrane Database Syst Rev 2016 Jan 15;2016(1):CD011146. doi: 10.1002/14651858.CD011146.pub2. PMID: 26771164Free PMC Article
Ejere HO, Schwartz E, Wormald R, Evans JR
Cochrane Database Syst Rev 2012 Aug 15;2012(8):CD002219. doi: 10.1002/14651858.CD002219.pub2. PMID: 22895928Free PMC Article

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