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Keratoconjunctivitis sicca

MedGen UID:
9620
Concept ID:
C0022575
Disease or Syndrome
Synonym: Xerophthalmia
SNOMED CT: KCS - Keratoconjunctivitis sicca (302896008); Keratoconjunctivitis sicca (302896008)
 
HPO: HP:0001097
Monarch Initiative: MONDO:0000948

Definition

Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKeratoconjunctivitis sicca

Conditions with this feature

Primary erythromelalgia
MedGen UID:
8688
Concept ID:
C0014805
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).
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
MedGen UID:
120536
Concept ID:
C0265336
Disease or Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and recurrent bacterial and fungal infections. A subset of patients with KID may develop multiple cystic pilar tumors, which are prone to malignant transformation and metastasis (Nyquist et al., 2007). Vohwinkel syndrome (124500) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. Another similar disorder caused by mutation in GJB2 is palmoplantar keratoderma with deafness (148350). Genetic Heterogeneity of Keratitis-Ichthyosis-Deafness Syndrome An autosomal recessive form of KID syndrome (KIDAR; 242150) is caused by mutation in the AP1B1 gene (600157) on chromosome 22q12.
Xeroderma pigmentosum, group D
MedGen UID:
75656
Concept ID:
C0268138
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). 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).
Trichothiodystrophy 4, nonphotosensitive
MedGen UID:
272036
Concept ID:
C1313961
Disease or Syndrome
Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008). Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD. For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675.
Sjogren syndrome
MedGen UID:
282890
Concept ID:
C1527336
Disease or Syndrome
Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters.
Achalasia, familial esophageal
MedGen UID:
395436
Concept ID:
C1860213
Disease or Syndrome
Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by Farrokhi and Vaezi, 2007 and Gockel et al., 2010).
Trichothiodystrophy 1, photosensitive
MedGen UID:
355730
Concept ID:
C1866504
Disease or Syndrome
About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. 
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
MedGen UID:
863379
Concept ID:
C4014942
Disease or Syndrome
CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by Vona et al., 2018). One family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see 256000). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected (Takezawa et al., 2018).
Tenorio syndrome
MedGen UID:
864147
Concept ID:
C4015710
Disease or Syndrome
Tenorio syndrome (TNORS) is characterized by overgrowth, macrocephaly, and impaired intellectual development. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).
Yao syndrome
MedGen UID:
934587
Concept ID:
C4310620
Disease or Syndrome
Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017).
Progeroid and marfanoid aspect-lipodystrophy syndrome
MedGen UID:
934763
Concept ID:
C4310796
Disease or Syndrome
The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).
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).
Cerebellar, ocular, craniofacial, and genital syndrome
MedGen UID:
1680057
Concept ID:
C5193118
Disease or Syndrome
Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed (Rad et al., 2019).
IFAP syndrome 2
MedGen UID:
1763502
Concept ID:
C5436607
Disease or Syndrome
Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa (Wang et al., 2020). For a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 (308205).
RECON progeroid syndrome
MedGen UID:
1841140
Concept ID:
C5830504
Disease or Syndrome
RECON progeroid syndrome (RECON) is a chromosomal instability disorder characterized by postnatal growth retardation, progeroid facial appearance, hypoplastic nose, prominent premaxilla, skin photosensitivity and xeroderma, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs (Abu-Libdeh et al., 2022).

Professional guidelines

PubMed

Sheppard J, Shen Lee B, Periman LM
Ann Med 2023 Dec;55(1):241-252. doi: 10.1080/07853890.2022.2157477. PMID: 36576348Free PMC Article
Mohamed HB, Abd El-Hamid BN, Fathalla D, Fouad EA
Eur J Pharm Sci 2022 Aug 1;175:106206. Epub 2022 May 11 doi: 10.1016/j.ejps.2022.106206. PMID: 35568107
Stefanski AL, Tomiak C, Pleyer U, Dietrich T, Burmester GR, Dörner T
Dtsch Arztebl Int 2017 May 26;114(20):354-361. doi: 10.3238/arztebl.2017.0354. PMID: 28610655Free PMC Article

Recent clinical studies

Etiology

Sheppard J, Shen Lee B, Periman LM
Ann Med 2023 Dec;55(1):241-252. doi: 10.1080/07853890.2022.2157477. PMID: 36576348Free PMC Article
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
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
Dammacco R
Clin Exp Med 2018 May;18(2):135-149. Epub 2017 Dec 14 doi: 10.1007/s10238-017-0479-9. PMID: 29243035
Stefanski AL, Tomiak C, Pleyer U, Dietrich T, Burmester GR, Dörner T
Dtsch Arztebl Int 2017 May 26;114(20):354-361. doi: 10.3238/arztebl.2017.0354. PMID: 28610655Free PMC Article

Diagnosis

Sheppard J, Shen Lee B, Periman LM
Ann Med 2023 Dec;55(1):241-252. doi: 10.1080/07853890.2022.2157477. PMID: 36576348Free PMC Article
Reddy AK, Kolfenbach JR, Palestine AG
Curr Opin Ophthalmol 2022 Nov 1;33(6):551-556. Epub 2022 Sep 16 doi: 10.1097/ICU.0000000000000890. PMID: 36165413
Mohamed HB, Abd El-Hamid BN, Fathalla D, Fouad EA
Eur J Pharm Sci 2022 Aug 1;175:106206. Epub 2022 May 11 doi: 10.1016/j.ejps.2022.106206. PMID: 35568107
Wolffsohn JS, Arita R, Chalmers R, Djalilian A, Dogru M, Dumbleton K, Gupta PK, Karpecki P, Lazreg S, Pult H, Sullivan BD, Tomlinson A, Tong L, Villani E, Yoon KC, Jones L, Craig JP
Ocul Surf 2017 Jul;15(3):539-574. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.001. PMID: 28736342
Craig JP, Nichols KK, Akpek EK, Caffery B, Dua HS, Joo CK, Liu Z, Nelson JD, Nichols JJ, Tsubota K, Stapleton F
Ocul Surf 2017 Jul;15(3):276-283. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.008. PMID: 28736335

Therapy

Reynolds G
Immunol Rev 2023 Sep;318(1):51-60. Epub 2023 Jul 12 doi: 10.1111/imr.13242. PMID: 37435963Free PMC Article
Soleimani M, Mahdavi Sharif P, Cheraqpour K, Koganti R, Masoumi A, Baharnoori SM, Salabati M, Djalilian AR
Surv Ophthalmol 2023 Jul-Aug;68(4):697-712. Epub 2023 Mar 2 doi: 10.1016/j.survophthal.2023.02.006. PMID: 36870423Free PMC Article
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
Jones L, Downie LE, Korb D, Benitez-Del-Castillo JM, Dana R, Deng SX, Dong PN, Geerling G, Hida RY, Liu Y, Seo KY, Tauber J, Wakamatsu TH, Xu J, Wolffsohn JS, Craig JP
Ocul Surf 2017 Jul;15(3):575-628. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.006. PMID: 28736343
Stefanski AL, Tomiak C, Pleyer U, Dietrich T, Burmester GR, Dörner T
Dtsch Arztebl Int 2017 May 26;114(20):354-361. doi: 10.3238/arztebl.2017.0354. PMID: 28610655Free PMC Article

Prognosis

Zemba M, Ionescu MA, Pîrvulescu RA, Dumitrescu OM, Daniel-Constantin B, Radu M, Stamate AC, Istrate S
Rom J Ophthalmol 2023 Jul-Sep;67(3):250-259. doi: 10.22336/rjo.2023.42. PMID: 37876509Free PMC Article
Reynolds G
Immunol Rev 2023 Sep;318(1):51-60. Epub 2023 Jul 12 doi: 10.1111/imr.13242. PMID: 37435963Free PMC Article
Jones L, Downie LE, Korb D, Benitez-Del-Castillo JM, Dana R, Deng SX, Dong PN, Geerling G, Hida RY, Liu Y, Seo KY, Tauber J, Wakamatsu TH, Xu J, Wolffsohn JS, Craig JP
Ocul Surf 2017 Jul;15(3):575-628. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.006. PMID: 28736343
Papiris SA, Tsonis IA, Moutsopoulos HM
Semin Respir Crit Care Med 2007 Aug;28(4):459-71. doi: 10.1055/s-2007-985667. PMID: 17764063
Roberts DK
J Am Optom Assoc 1991 Mar;62(3):187-99. PMID: 1813522

Clinical prediction guides

Reynolds G
Immunol Rev 2023 Sep;318(1):51-60. Epub 2023 Jul 12 doi: 10.1111/imr.13242. PMID: 37435963Free PMC Article
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
Dry Eye Assessment and Management Study Research Group, Asbell PA, Maguire MG, Pistilli M, Ying GS, Szczotka-Flynn LB, Hardten DR, Lin MC, Shtein RM
N Engl J Med 2018 May 3;378(18):1681-1690. Epub 2018 Apr 13 doi: 10.1056/NEJMoa1709691. PMID: 29652551Free PMC Article
Jones L, Downie LE, Korb D, Benitez-Del-Castillo JM, Dana R, Deng SX, Dong PN, Geerling G, Hida RY, Liu Y, Seo KY, Tauber J, Wakamatsu TH, Xu J, Wolffsohn JS, Craig JP
Ocul Surf 2017 Jul;15(3):575-628. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.006. PMID: 28736343
Wolffsohn JS, Arita R, Chalmers R, Djalilian A, Dogru M, Dumbleton K, Gupta PK, Karpecki P, Lazreg S, Pult H, Sullivan BD, Tomlinson A, Tong L, Villani E, Yoon KC, Jones L, Craig JP
Ocul Surf 2017 Jul;15(3):539-574. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.001. PMID: 28736342

Recent systematic reviews

Tsai CY, Jiesisibieke ZL, Tung TH
Front Public Health 2022;10:910608. Epub 2022 Nov 17 doi: 10.3389/fpubh.2022.910608. PMID: 36466469Free PMC Article
Abtahi-Naeini B, Saffaei A, Sabzghabaee AM, Amiri R, Hosseini NS, Niknami E, Dehghani S
Dermatol Ther 2022 Apr;35(4):e15334. Epub 2022 Feb 7 doi: 10.1111/dth.15334. PMID: 35080090
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
Turk MA, Hayworth JL, Nevskaya T, Pope JE
J Rheumatol 2021 Jan 1;48(1):25-34. Epub 2020 May 1 doi: 10.3899/jrheum.190768. PMID: 32358156
Papagiannuli E, Rhodes B, Wallace GR, Gordon C, Murray PI, Denniston AK
Surv Ophthalmol 2016 Jan-Feb;61(1):65-82. Epub 2015 Jul 18 doi: 10.1016/j.survophthal.2015.06.003. PMID: 26197421

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