Health / Medical Topics |
Hereditary Benign Intraepithelial Dyskeratosis
A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported. (NCI Thesaurus)
YOU MAY ALSO LIKE
Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa…
Autosomal dominant inherited disorder characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa…
Transmitted from parent to child by information contained in the genes.
The Herding Group members were formerly members of the Working Group. All breeds share the ability to control the movement of other…
A drug used to treat breast cancer that is HER2-positive (expresses the human epidermal growth factor receptor 2). It is also used…
An FDA approved test for the evaluation of HER2 protein overexpression in breast tumors. It provides semi-quantitative results of p185HER2 (HER2…