HBID
MCID: DYS096
MIFTS: 23

Dyskeratosis, Hereditary Benign Intraepithelial (HBID)

Categories: Eye diseases, Oral 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 58 29 70
Hbid 57 58
Hereditary Benign Corneal Intraepithelial Dyskeratosis 58
Dkbi 57

Characteristics:

Orphanet epidemiological data:

58
hereditary benign intraepithelial dyskeratosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
dyskeratosis, hereditary benign intraepithelial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 127600
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0265966
Orphanet 58 ORPHA352657
MedGen 41 C0265966
UMLS 70 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) (Updated 20-May-2021)

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

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 white sponge nevus 1 10.4
2 darier-white disease 10.1
3 pachyonychia congenita 1 10.1
4 ifap syndrome 2 10.1
5 keratosis 10.1
6 chronic conjunctivitis 10.1
7 conjunctivitis 10.1

Graphical network of the top 20 diseases related to Dyskeratosis, Hereditary Benign Intraepithelial:



Diseases related to Dyskeratosis, Hereditary Benign Intraepithelial

Symptoms & Phenotypes for Dyskeratosis, Hereditary Benign Intraepithelial

Human phenotypes related to Dyskeratosis, Hereditary Benign Intraepithelial:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 occasional (7.5%) HP:0000613
2 visual impairment 31 HP:0000505
3 red eye 31 HP:0025337
4 oral leukoplakia 31 HP:0002745

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
photophobia (in some patients)
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
more
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)

Skin Nails Hair Skin:
clear gelatinous pterygia-like plaques of the nasal and temporal perilimbal bulbar conjunctiva

Clinical features from OMIM®:

127600 (Updated 20-May-2021)

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:

40
Eye

Publications for Dyskeratosis, Hereditary Benign Intraepithelial

Articles related to Dyskeratosis, Hereditary Benign Intraepithelial:

(show all 25)
# Title Authors PMID Year
1
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. 61 57
23349227 2013
2
Hereditary benign intraepithelial dyskeratosis: case report. 61 57
19538374 2009
3
Hereditary benign intraepithelial dyskeratosis: a new case? 61 57
17181743 2007
4
A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. 61 57
11170897 2001
5
Hereditary benign intraepithelial dyskeratosis. 61 57
3827721 1987
6
Corneal manifestations of hereditary benign intraepithelial dyskeratosis. 61 57
550801 1979
7
Ultrastructural study of hereditary benign intraepithelial dyskeratosis. 57 61
269352 1977
8
Hereditary benign intraepithelial dyskeratosis. 61 57
5640851 1968
9
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. 57 61
14007732 1961
10
Hereditary benign intraepithelial dyskeratosis. II. Oral manifestations and hereditary transmission. 61 57
13786059 1960
11
Hereditary Dyskeratosis of the Perilimbal Conjunctiva. 57
16693585 1959
12
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
13
Frictional Keratosis, Contact Keratosis and Smokeless Tobacco Keratosis: Features of Reactive White Lesions of the Oral Mucosa. 61
30671762 2019
14
Bilateral Limbal Keratin-Associated Amyloidosis. 61
29505468 2018
15
Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity. 61
24555743 2016
16
Mucocutaneous dyskeratosis with periodontal destruction and premature tooth loss. 61
22669113 2012
17
Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with bilateral corneas involved: a case report and mini review. 61
21993456 2011
18
Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology. 61
18684035 2008
19
Hereditary benign intraepithelial dyskeratosis: Report of two cases with prominent oral lesions. 61
11568764 2001
20
[Hereditary benign intraepithelial dyskeratosis]. 61
9828633 1998
21
Hereditary Benign Intraepithelial Dyskeratosis. 61
28134163 1988
22
Acquired dyskeratotic leukoplakia. 61
3337534 1988
23
Hereditary benign intraepithelial dyskeratosis. A report of two cases from Texas. 61
7231902 1981
24
The presence of Candida albicans in hereditary benign intraepithelial dyskeratosis. An ultrastructural observation. 61
388275 1979
25
HEREDITARY BENIGN INTRAEPITHELIAL DYSKERATOSIS: A LINKAGE STUDY. 61
14262127 1965

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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