What does CYLD stand for?
CYLD lysine 63 deubiquitinase, also known as CYLD, is a human gene. This gene encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme.
What is the function of the Deubiquitinases DUBs A20 and CYLD?
Several DUBs, such as CYLD, A20 and OTULIN, act as negative regulators of NF-κB signaling and have an important role in TNF-induced cell death signaling.
Is there a treatment for Brooke Spiegler syndrome?
Brooke-Spiegler syndrome is not curable. Possible treatment options for individual tumours include: Excision. Electrosurgery.
What is Brooke-Spiegler disease?
Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by the presence of various adnexal tumors including multiple cylindromas, trichoepitheliomas and spiradenomas. A 35-year-old female presented with multiple asymptomatic nodular lesions over face and scalp since the age of 5 years.
What is a Turban tumor?
Cylindromas are appendage tumors of uncertain histogenesis. They may occur as solitary or multiple lesions. In case of multiple lesions numerous small papules and/or large dome-shaped nodules are present on the scalp like a turban, hence the name turban tumor.
Can you cure Brooke-Spiegler syndrome?
What is Pilomatricoma?
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs.
What causes Brooke-Spiegler syndrome?
Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepitheliomas are due to germline mutations in the cylindromatosis (CYLD) gene on chromosome 16q12. These disorders have an autosomal dominant inheritance, meaning half of an affected individual’s children will also have the condition.
Is Pilomatricoma cancerous?
Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant ). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life.