Conjunctival Hereditary Benign Intraepithelial Dyskeratosis

Preferred Label : Conjunctival Hereditary Benign Intraepithelial Dyskeratosis;

NCIt synonyms : Conjunctival HBID;

NCIt definition : A rare autosomal dominant disorder with high penetrance that affects the limbal conjunctiva. It is almost exclusively encountered in Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina and is caused by a duplication in chromosome 4q35. It is characterized by the presence of frequently bilateral, elevated epithelial dyskeratotic plaques in the limbal conjunctiva. There is prominent inflammation in substantia propria. Epithelial dysplasia is absent.;

Neoplastic status : Benign;

Détails

Origin ID

C212097;

Disease excludes abnormal cell
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Malignant Squamous Cell [NCIt concept]
- Neoplastic Glandular Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Disease excludes normal cell origin
- Endocrine-Stromal Cell [NCIt concept]
Excludes anatomical site(s)
- Lymphatic System [NCIt concept]
Has associated anatomic sites
- Adnexa [NCIt concept]
- Conjunctiva [NCIt concept]
- Eye [NCIt concept]
- Head and Neck [NCIt concept]
- Ocular Adnexa [NCIt concept]
Has cytogenetic abnormalities
- Gain of Chromosome 4q35 [NCIt concept]
disease_excludes_finding
- Borderline Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Mixed Cellular Population [NCIt concept]
- Mixed Neoplastic Glandular and Squamous Cell Population [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Squamous Cell [NCIt concept]
disease_has_finding
- Benign Cellular Infiltrate [NCIt concept]
- Dyskeratosis [NCIt concept]
- Elevated Plaque-Like Lesion [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Conjunctiva [NCIt concept]
- Eye [NCIt concept]
- Head and Neck [NCIt concept]
- Ocular Adnexa [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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