Preferred Label : Dyskeratosis, hereditary benign intraepithelial;
Symbol : HBID;
CISMeF acronym : DKBI; HBID;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : DKBI;
Description : 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).;
Inheritance : Autosomal dominant;
Prefixed ID : %127600;
Origin ID : 127600;
UMLS CUI : C0265966;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
