Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma are allelic and are considered to represent phenotypic spectrum of a single disease entity.
Other cases are caused by mutations of the cylindromatosis oncogene (CYLD) which maps to 16/q12-q13.
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
The enhancement of this antiviral immune response then derived from suppressing cylindromatosis
(CYLD) expression by miR-526a.
61 (b) cylindromatosis
(turban tumor syndrome); cylindromatosis
1 rc_A1070721_s_at glial cell line derived -2.
Turban tumour syndrome, known medically as cylindromatosis
, causes huge mushroomshaped tumours to grow out of the scalp and other hairy parts of the body.
Liz, 47, from Newcastle, suffers from cylindromatosis
, atype of skin tumour which occurs mainly on the scalp.
Multiple cylindromas (socalled turban tumor) are seen in familial cylindromatosis (Brooke-Spiegler syndrome), which is inherited in an autosomal dominant fashion.
The gene associated with familial cylindromatosis, CYLD1 (cylindromatosis 1), is located on 16q12-13, and is a tumor suppressor gene.
302) However, no mutations in the regions coding for this domain have been found in patients with familial cylindromatosis.
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.
Multiple cylindromas accompanied by spiradenomas or trichoepitheliomas or both are found in inherited syndromes, such as Brooke-Spiegler syndrome, familial cylindromatosis
, and multiple familial trichoepithelioma syndrome.