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Hereditary benign intraepithelial dyskeratosis(HBID)

MedGen UID:
75588
Concept ID:
C0265966
Disease or Syndrome
Synonyms: HBID
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary benign intraepithelial dyskeratosis (400014002); Witkop-von Sallman syndrome (400014002); Witkop-Von Sallmann disease (400014002)
 
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 GTR]

Additional description

From OMIM
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).  http://www.omim.org/entry/127600

Clinical features

Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
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.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
Oral leukoplakia
MedGen UID:
316451
Concept ID:
C1704317
Anatomical Abnormality
A thickened white patch on the oral mucosa that cannot be rubbed off.

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.

Recent clinical studies

Etiology

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
Yanoff M
Arch Ophthalmol 1968 Mar;79(3):291-3. PMID: 5640851

Diagnosis

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: 10.1043/1543-2165(2008)132[1325:HBIDAE]2.0.CO;2. PMID: 18684035
Jham BC, Mesquita RA, Aguiar MC, Carmo MA
J Oral Pathol Med 2007 Jan;36(1):55-7. doi: 10.1111/j.1600-0714.2006.00456.x. PMID: 17181743
Haisley-Royster CA, Allingham RR, Klintworth GK, Prose NS
J Am Acad Dermatol 2001 Oct;45(4):634-6. doi: 10.1067/mjd.2001.116336. PMID: 11568764
James WD, Lupton GP
Arch Dermatol 1988 Jan;124(1):117-20. PMID: 3337534

Prognosis

McLean IW, Riddle PJ, Schruggs JH, Jones DB
Ophthalmology 1981 Feb;88(2):164-8. 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: 10.1043/1543-2165(2008)132[1325:HBIDAE]2.0.CO;2. 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. PMID: 388275

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