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Keratitis

MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
Synonyms: Corneal inflammation
SNOMED CT: Keratitis (5888003)
 
HPO: HP:0000491

Definition

Inflammation of the cornea. [from NCI]

Conditions with this feature

Hereditary insensitivity to pain with anhidrosis
MedGen UID:
6915
Concept ID:
C0020074
Disease or Syndrome
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.
Incontinentia pigmenti syndrome
MedGen UID:
7049
Concept ID:
C0021171
Disease or Syndrome
Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system. Characteristic skin lesions evolve through four stages: I. Blistering (birth to age ~4 months). II. Wart-like rash (for several months). III. Swirling macular hyperpigmentation (age ~6 months into adulthood) . IV. Linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including cognitive delays/intellectual disability and learning disability are occasionally seen.
DE SANCTIS-CACCHIONE SYNDROME
MedGen UID:
75550
Concept ID:
C0265201
Congenital Abnormality
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Xeroderma pigmentosum, type 1
MedGen UID:
82775
Concept ID:
C0268135
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group D
MedGen UID:
75656
Concept ID:
C0268138
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Polymorphous corneal dystrophy
MedGen UID:
87382
Concept ID:
C0339284
Disease or Syndrome
This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.
Keratosis pilaris decalvans
MedGen UID:
83355
Concept ID:
C0343057
Congenital Abnormality
Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.
Keratitis fugax hereditaria
MedGen UID:
372107
Concept ID:
C1835697
Disease or Syndrome
Keratitis, hereditary
MedGen UID:
332039
Concept ID:
C1835698
Disease or Syndrome
Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. The major clinical symptoms are anterior stromal corneal opacification and vascularization of the peripheral cornea. Progression of the opacification and vascularization into the central cornea may occur with corresponding reduction in visual acuity. Other anterior segment features include variable radial defects of the iris stroma and foveal hypoplasia (summary by Mirzayans et al., 1995).
Xeroderma pigmentosum, variant type
MedGen UID:
376352
Concept ID:
C1848410
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Xeroderma pigmentosum, group E
MedGen UID:
341219
Concept ID:
C1848411
Congenital Abnormality
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation
MedGen UID:
342261
Concept ID:
C1852543
Disease or Syndrome
Dermatoosteolysis Kirghizian type
MedGen UID:
341742
Concept ID:
C1857301
Disease or Syndrome
Mandibulofacial dysostosis with macroblepharon and macrostomia
MedGen UID:
355927
Concept ID:
C1865181
Disease or Syndrome
Keratosis follicularis spinulosa decalvans, autosomal dominant
MedGen UID:
412573
Concept ID:
C2748527
Disease or Syndrome
Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009).
Xeroderma pigmentosum, group C
MedGen UID:
416702
Concept ID:
C2752147
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
MedGen UID:
418981
Concept ID:
C2931072
Disease or Syndrome
Epidermolysis bullosa simplex with muscular dystrophy is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes (Fine et al., 1989). Fine et al. (1991) reported a revised classification of the subtypes of inherited epidermolysis bullosa. In reports of 2 consensus meetings on EB, Fine et al. (2000, 2008) referred to EB with muscular dystrophy due to PLEC1 mutations as a form of basal simplex EB. Fine et al. (2000, 2008) also eliminated the term 'hemidesmosomal,' which had previously been proposed for this entity (Uitto et al., 1997) because ultrastructural analysis can demonstrate tissue abnormalities of the hemidesmosomes.

Recent clinical studies

Etiology

Erdem E, Yagmur M, Boral H, Ilkit M, Ersoz R, Seyedmousavi S
Mycopathologia 2017 Apr;182(3-4):379-385. Epub 2016 Nov 8 doi: 10.1007/s11046-016-0089-1. PMID: 27826683
Zbiba W, Baba A, Bouayed E, Abdessalem N, Daldoul A
J Fr Ophtalmol 2016 Dec;39(10):843-848. Epub 2016 Nov 10 doi: 10.1016/j.jfo.2016.09.006. PMID: 27839848
Kibret T, Bitew A
BMC Ophthalmol 2016 Aug 30;16(1):148. doi: 10.1186/s12886-016-0330-1. PMID: 27576913Free PMC Article
Ghosh AK, Gupta A, Rudramurthy SM, Paul S, Hallur VK, Chakrabarti A
Mycopathologia 2016 Dec;181(11-12):843-850. Epub 2016 Jul 29 doi: 10.1007/s11046-016-0042-3. PMID: 27473202
Wang T, Li S, Gao H, Shi W
Graefes Arch Clin Exp Ophthalmol 2016 Aug;254(8):1585-9. Epub 2016 Jun 24 doi: 10.1007/s00417-016-3412-0. PMID: 27342585

Diagnosis

Lakhundi S, Siddiqui R, Khan NA
Microb Pathog 2017 Mar;104:97-109. Epub 2016 Dec 18 doi: 10.1016/j.micpath.2016.12.013. PMID: 27998732
Erdem E, Yagmur M, Boral H, Ilkit M, Ersoz R, Seyedmousavi S
Mycopathologia 2017 Apr;182(3-4):379-385. Epub 2016 Nov 8 doi: 10.1007/s11046-016-0089-1. PMID: 27826683
Zbiba W, Baba A, Bouayed E, Abdessalem N, Daldoul A
J Fr Ophtalmol 2016 Dec;39(10):843-848. Epub 2016 Nov 10 doi: 10.1016/j.jfo.2016.09.006. PMID: 27839848
Ghosh AK, Gupta A, Rudramurthy SM, Paul S, Hallur VK, Chakrabarti A
Mycopathologia 2016 Dec;181(11-12):843-850. Epub 2016 Jul 29 doi: 10.1007/s11046-016-0042-3. PMID: 27473202
Bansal Y, Chander J, Kaistha N, Singla N, Sood S, van Diepeningen AD
Mycoses 2016 Nov;59(11):705-709. doi: 10.1111/myc.12518. PMID: 27292696

Therapy

Erdem E, Yagmur M, Boral H, Ilkit M, Ersoz R, Seyedmousavi S
Mycopathologia 2017 Apr;182(3-4):379-385. Epub 2016 Nov 8 doi: 10.1007/s11046-016-0089-1. PMID: 27826683
Toker E, Ziyade N, Atici S, Eda KK, Türel Ö, Toprak D, Oray M, Cerikcioglu N, Soysal A, Bakir M
Pan Afr Med J 2016;24:317. Epub 2016 Aug 18 doi: 10.11604/pamj.2016.24.317.9772. PMID: 28154672Free PMC Article
Wang T, Li S, Gao H, Shi W
Graefes Arch Clin Exp Ophthalmol 2016 Aug;254(8):1585-9. Epub 2016 Jun 24 doi: 10.1007/s00417-016-3412-0. PMID: 27342585
Abbouda A, Abicca I, Alió JL
Semin Ophthalmol 2016;31(5):485-91. Epub 2014 Nov 13 doi: 10.3109/08820538.2014.962176. PMID: 25392046
Willmann G
High Alt Med Biol 2015 Dec;16(4):277-82. doi: 10.1089/ham.2015.0109. PMID: 26680683

Prognosis

Erdem E, Yagmur M, Boral H, Ilkit M, Ersoz R, Seyedmousavi S
Mycopathologia 2017 Apr;182(3-4):379-385. Epub 2016 Nov 8 doi: 10.1007/s11046-016-0089-1. PMID: 27826683
Zbiba W, Baba A, Bouayed E, Abdessalem N, Daldoul A
J Fr Ophtalmol 2016 Dec;39(10):843-848. Epub 2016 Nov 10 doi: 10.1016/j.jfo.2016.09.006. PMID: 27839848
Ghosh AK, Gupta A, Rudramurthy SM, Paul S, Hallur VK, Chakrabarti A
Mycopathologia 2016 Dec;181(11-12):843-850. Epub 2016 Jul 29 doi: 10.1007/s11046-016-0042-3. PMID: 27473202
Wang T, Li S, Gao H, Shi W
Graefes Arch Clin Exp Ophthalmol 2016 Aug;254(8):1585-9. Epub 2016 Jun 24 doi: 10.1007/s00417-016-3412-0. PMID: 27342585
Davila JR, Mian SI
Curr Opin Ophthalmol 2016 Jul;27(4):358-66. doi: 10.1097/ICU.0000000000000269. PMID: 27054815

Clinical prediction guides

Erdem E, Yagmur M, Boral H, Ilkit M, Ersoz R, Seyedmousavi S
Mycopathologia 2017 Apr;182(3-4):379-385. Epub 2016 Nov 8 doi: 10.1007/s11046-016-0089-1. PMID: 27826683
Ali TK, Amescua G, Miller D, Suh LH, Delmonte DW, Gibbons A, Alfonso EC, Forster RK
Semin Ophthalmol 2017;32(2):157-162. Epub 2015 Feb 27 doi: 10.3109/08820538.2015.1011342. PMID: 25723808
Zbiba W, Baba A, Bouayed E, Abdessalem N, Daldoul A
J Fr Ophtalmol 2016 Dec;39(10):843-848. Epub 2016 Nov 10 doi: 10.1016/j.jfo.2016.09.006. PMID: 27839848
Suzuki T, Morishige N, Arita R, Koh S, Sakimoto T, Shirakawa R, Miyata K, Ohashi Y
BMC Ophthalmol 2016 Oct 10;16(1):178. doi: 10.1186/s12886-016-0347-5. PMID: 27724848Free PMC Article
Wang T, Li S, Gao H, Shi W
Graefes Arch Clin Exp Ophthalmol 2016 Aug;254(8):1585-9. Epub 2016 Jun 24 doi: 10.1007/s00417-016-3412-0. PMID: 27342585

Recent systematic reviews

Tallab RT, Stone DU
Br J Ophthalmol 2016 Jun;100(6):731-5. Epub 2016 Jan 7 doi: 10.1136/bjophthalmol-2015-307955. PMID: 26743622
Papaioannou L, Miligkos M, Papathanassiou M
Cornea 2016 Jan;35(1):62-71. doi: 10.1097/ICO.0000000000000644. PMID: 26509768
Abbouda A, Abicca I, Alió JL
Semin Ophthalmol 2016;31(5):485-91. Epub 2014 Nov 13 doi: 10.3109/08820538.2014.962176. PMID: 25392046
FlorCruz NV, Evans JR
Cochrane Database Syst Rev 2015 Apr 9;(4):CD004241. doi: 10.1002/14651858.CD004241.pub4. PMID: 25855311
Herretes S, Wang X, Reyes JM
Cochrane Database Syst Rev 2014 Oct 16;(10):CD005430. doi: 10.1002/14651858.CD005430.pub3. PMID: 25321340Free PMC Article

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