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Hereditary benign intraepithelial dyskeratosis(HBID)

MedGen UID:
75588
Concept ID:
C0265966
Disease or Syndrome
Synonym: HBID
SNOMED CT: Hereditary benign intraepithelial dyskeratosis (400014002); Witkop-von Sallman syndrome (400014002); Witkop-Von Sallmann disease (400014002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007486
OMIM®: 127600
Orphanet: ORPHA352657

Definition

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). [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Oral mucosa leukoplakia
MedGen UID:
9738
Concept ID:
C0023532
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
Red eye
MedGen UID:
68614
Concept ID:
C0235267
Sign or Symptom
A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary benign intraepithelial dyskeratosis
Follow this link to review classifications for Hereditary benign intraepithelial dyskeratosis in Orphanet.

Professional guidelines

PubMed

Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139

Recent clinical studies

Etiology

Seely M, Jackson K, Meeker A, Daluvoy M
Cornea 2022 Nov 1;41(11):1451-1454. Epub 2022 Jul 4 doi: 10.1097/ICO.0000000000003085. PMID: 36219214
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139

Diagnosis

Seely M, Jackson K, Meeker A, Daluvoy M
Cornea 2022 Nov 1;41(11):1451-1454. Epub 2022 Jul 4 doi: 10.1097/ICO.0000000000003085. PMID: 36219214
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Müller S
Head Neck Pathol 2019 Mar;13(1):16-24. Epub 2019 Jan 22 doi: 10.1007/s12105-018-0986-3. PMID: 30671762Free PMC Article
Bui T, Young JW, Frausto RF, Markello TC, Glasgow BJ, Aldave AJ
Ophthalmic Genet 2016;37(1):76-80. Epub 2014 Feb 20 doi: 10.3109/13816810.2014.889169. PMID: 24555743Free PMC Article
Cummings TJ, Dodd LG, Eedes CR, Klintworth GK
Arch Pathol Lab Med 2008 Aug;132(8):1325-8. doi: 10.5858/2008-132-1325-HBIDAE. PMID: 18684035

Therapy

Müller S
Head Neck Pathol 2019 Mar;13(1):16-24. Epub 2019 Jan 22 doi: 10.1007/s12105-018-0986-3. PMID: 30671762Free PMC Article

Prognosis

Seely M, Jackson K, Meeker A, Daluvoy M
Cornea 2022 Nov 1;41(11):1451-1454. Epub 2022 Jul 4 doi: 10.1097/ICO.0000000000003085. PMID: 36219214
McLean IW, Riddle PJ, Schruggs JH, Jones DB
Ophthalmology 1981 Feb;88(2):164-8. doi: 10.1016/s0161-6420(81)35058-1. PMID: 7231902

Clinical prediction guides

Cai R, Zhang C, Chen R, Bi Y, Le Q
Cornea 2011 Dec;30(12):1481-4. doi: 10.1097/ICO.0b013e31820357e2. PMID: 21993456
Cummings TJ, Dodd LG, Eedes CR, Klintworth GK
Arch Pathol Lab Med 2008 Aug;132(8):1325-8. doi: 10.5858/2008-132-1325-HBIDAE. PMID: 18684035
Allingham RR, Seo B, Rampersaud E, Bembe M, Challa P, Liu N, Parrish T, Karolak L, Gilbert J, Pericak-Vance MA, Klintworth GK, Vance JM
Am J Hum Genet 2001 Feb;68(2):491-4. Epub 2001 Jan 16 doi: 10.1086/318194. PMID: 11170897Free PMC Article
Sadeghi EM, Witkop CJ
Oral Surg Oral Med Oral Pathol 1979 Oct;48(4):342-6. doi: 10.1016/0030-4220(79)90034-3. PMID: 388275

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