DKBI
MCID: DYS096
MIFTS: 25

Dyskeratosis, Hereditary Benign Intraepithelial (DKBI)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Dyskeratosis, Hereditary Benign Intraepithelial

MalaCards integrated aliases for Dyskeratosis, Hereditary Benign Intraepithelial:

Name: Dyskeratosis, Hereditary Benign Intraepithelial 57 13
Hereditary Benign Intraepithelial Dyskeratosis 59 29 73
Hbid 57 59
Hereditary Benign Corneal Intraepithelial Dyskeratosis 59
Dkbi 57

Characteristics:

Orphanet epidemiological data:

59
hereditary benign intraepithelial dyskeratosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
lesions are present at birth or become apparent in infancy
some patients report seasonal variation in symptoms
some patients have only ocular involvement or only oral involvement


HPO:

32
dyskeratosis, hereditary benign intraepithelial:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 127600
Orphanet 59 ORPHA352657
UMLS via Orphanet 74 C0265966
ICD10 via Orphanet 34 Q82.8
MedGen 42 C0265966
UMLS 73 C0265966

Summaries for Dyskeratosis, Hereditary Benign Intraepithelial

OMIM : 57 Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. The bulbar conjunctiva is involved, especially in the nasal and temporal perilimbal region. Dilated superficial vessels in association with the conjunctival plaques give the eye an overall red appearance, which accounts for the disease's nickname of 'red eye.' Morphologically, the lesions consist of a dyskeratotic hyperplastic epithelium. The oral lesions, which are typically asymptomatic and may go unrecognized, usually appear as thick, soft, white papules and plaques of various sizes, involving any part of the oral cavity. The ocular manifestations in this condition vary in severity from asymptomatic plaques on the bulbar conjunctiva to complete involvement of the cornea with severe vision loss. Patients commonly complain of symptoms of irritation, such as erythema, itching, excessive lacrimation, and photophobia. Periods of acute intensification of symptoms are common, especially in the spring. The lesions may become apparent in early infancy and may date from birth. The plaques persist throughout life and sometimes progress, but may wax and wane (summary by Witkop et al., 1960; Reed et al., 1979; and Baroni et al., 2009). (127600)

MalaCards based summary : Dyskeratosis, Hereditary Benign Intraepithelial, also known as hereditary benign intraepithelial dyskeratosis, is related to pachyonychia congenita 1 and white sponge nevus 1. An important gene associated with Dyskeratosis, Hereditary Benign Intraepithelial is DKBI (Dyskeratosis, Hereditary Benign Intraepithelial). Affiliated tissues include eye and skin, and related phenotypes are visual impairment and photophobia

Wikipedia : 76 Hereditary benign intraepithelial dyskeratosis is a rareautosomal dominant disease of the conjunctiva... more...

Related Diseases for Dyskeratosis, Hereditary Benign Intraepithelial

Diseases related to Dyskeratosis, Hereditary Benign Intraepithelial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 1 10.0
2 white sponge nevus 1 10.0
3 mucositis 10.0

Symptoms & Phenotypes for Dyskeratosis, Hereditary Benign Intraepithelial

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
clear gelatinous pterygia-like plaques of the nasal and temporal perilimbal bulbar conjunctiva
lesions may involve cornea (in some patients)
extensive lesions may impair vision (in some patients)
dilated superficial vessels give 'red eye' appearance
asymptomatic (in some patients)
more
Skin Nails Hair Skin:
clear gelatinous pterygia-like plaques of the nasal and temporal perilimbal bulbar conjunctiva

Head And Neck Mouth:
oral mucous membrane dyskeratosis resembling leukoplakia (may be in any part of oral cavity)
thick soft white papules and plaques of variable size (may be in any part of oral cavity)


Clinical features from OMIM:

127600

Human phenotypes related to Dyskeratosis, Hereditary Benign Intraepithelial:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 photophobia 32 occasional (7.5%) HP:0000613
3 oral leukoplakia 32 HP:0002745

Drugs & Therapeutics for Dyskeratosis, Hereditary Benign Intraepithelial

Search Clinical Trials , NIH Clinical Center for Dyskeratosis, Hereditary Benign Intraepithelial

Genetic Tests for Dyskeratosis, Hereditary Benign Intraepithelial

Genetic tests related to Dyskeratosis, Hereditary Benign Intraepithelial:

# Genetic test Affiliating Genes
1 Hereditary Benign Intraepithelial Dyskeratosis 29

Anatomical Context for Dyskeratosis, Hereditary Benign Intraepithelial

MalaCards organs/tissues related to Dyskeratosis, Hereditary Benign Intraepithelial:

41
Eye, Skin

Publications for Dyskeratosis, Hereditary Benign Intraepithelial

Articles related to Dyskeratosis, Hereditary Benign Intraepithelial:

(show all 17)
# Title Authors Year
1
Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity. ( 24555743 )
2014
2
Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with bilateral corneas involved: a case report and mini review. ( 21993456 )
2011
3
Hereditary benign intraepithelial dyskeratosis: case report. ( 19538374 )
2009
4
Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology. ( 18684035 )
2008
5
Hereditary benign intraepithelial dyskeratosis: a new case? ( 17181743 )
2007
6
Hereditary benign intraepithelial dyskeratosis: Report of two cases with prominent oral lesions. ( 11568764 )
2001
7
A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. ( 11170897 )
2001
8
[Hereditary benign intraepithelial dyskeratosis]. ( 9828633 )
1998
9
Hereditary benign intraepithelial dyskeratosis. ( 3827721 )
1987
10
Hereditary benign intraepithelial dyskeratosis. A report of two cases from Texas. ( 7231902 )
1981
11
Corneal manifestations of hereditary benign intraepithelial dyskeratosis. ( 550801 )
1979
12
The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. An ultrastructural observation. ( 388275 )
1979
13
Ultrastructural study of hereditary benign intraepithelial dyskeratosis. ( 269352 )
1977
14
Hereditary benign intraepithelial dyskeratosis. ( 5640851 )
1968
15
HEREDITARY BENIGN INTRAEPITHELIAL DYSKERATOSIS: A LINKAGE STUDY. ( 14262127 )
1965
16
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. ( 14007732 )
1961
17
Hereditary benign intraepithelial dyskeratosis. II. Oral manifestations and hereditary transmission. ( 13786059 )
1960

Variations for Dyskeratosis, Hereditary Benign Intraepithelial

Expression for Dyskeratosis, Hereditary Benign Intraepithelial

Search GEO for disease gene expression data for Dyskeratosis, Hereditary Benign Intraepithelial.

Pathways for Dyskeratosis, Hereditary Benign Intraepithelial

GO Terms for Dyskeratosis, Hereditary Benign Intraepithelial

Sources for Dyskeratosis, Hereditary Benign Intraepithelial

3 CDC
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10 dbSNP
11 DGIdb
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44 MeSH
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51 NDF-RT
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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