Brooke-Spiegler syndrome
Summary
Excerpted from the GeneReview:CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Anna Dubois
- Neil Rajan
- view full author information
Available tests
19 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (19 available)
Clinical features
Help- Abnormality of the integument
- Milia
Milia
- MedGen UID: 87528
- Concept ID: C0345996
- Finding: Anatomical Abnormality
Abnormality of the integument
- Milia
- Neoplasm
- Neoplasm
Neoplasm
- MedGen UID: 10294
- Concept ID: C0027651
- Finding: Neoplastic Process
Neoplasm
- Neoplasm
- NCI PDQ, Skin CancerGenetics of Skin Cancer (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
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