Don’t fight Brooke-Spiegler syndrome alone.
Find your community on the free RareGuru App.Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). Individuals with Brooke-Spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke- Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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Cylindroma |
30%-79% of people have these symptoms.
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Abnormality of the neck |
Abnormality of the scalp |
Trichoepithelioma |
5%-29% of people have these symptoms.
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Basal cell carcinoma |
Abnormal bleeding |
Multiple cutaneous malignancies |
Nodular changes affecting the eyelids |
Skin ulcer |
Skin-colored papule |
1%-4% of people have these symptoms.
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Abnormality of the auditory canal |
Abnormality of the sublingual glands |
Abnormality of the submandibular glands |
Facial palsy |
Hearing impairment |
Salivary gland neoplasm |
Visual impairment |
An unknown % of people have these symptoms.
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Milia |
Adult onset |
Conspicuously happy disposition |
Adult onset |
Increased urinary cortisol level |
Milia |
Interrupted aortic arch |
Inertia |
Rheumatoid factor positive |
Autosomal dominant inheritance |
Neoplasm |
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