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Condition report · Cancer

CYLD Cutaneous Syndrome

An inherited condition caused by variants in CYLD that leads to multiple benign skin-appendage tumours, mainly on the head and neck (Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma).

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Brooke-Spiegler syndrome (CYLD cutaneous syndrome)

Autosomal dominant

CYLD-related multiple cylindromas, spiradenomas and trichoepitheliomas, which are usually benign but can be disfiguring and rarely become malignant.

What a diagnosis changes

Early diagnosis allows dermatology follow-up and timely removal of tumours.

Genes analysed

Also known as

BRSS; CYLD cutaneous syndrome

Includes 4 related subtypes ↓
  • familial cylindromatosis
  • familial multiple trichoepithelioma
  • trichoepithelioma, multiple familial, 1
  • trichoepithelioma, multiple familial, 2
MONDO:0011512OMIM 605041Orphanet 79493MedGen 346703

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