Living with Brooke-Spiegler syndrome
A genetic condition with several types of noncancerous skin tumors, mainly on the scalp and face.
Understanding Brooke-Spiegler syndrome
Tumors mainly grow on the scalp and face, but can also be on the torso, genitals, and armpits. They usually first appear in the teens or early adulthood. Their number increases over time, and in severe cases they can cover most of the scalp. Rarely a tumor becomes cancerous. Other complications can include basal cell cancer of the salivary gland, or deafness from a tumor in the ear canal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin tumors on the scalp and face (cylindromas)
- Small skin bumps (trichoepitheliomas)
- Skin nodules
- Basal cell carcinoma (less common)
- Hearing loss from ear canal tumors (less common)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CYLD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CYLD gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: cyld cutaneous syndrome; spiegler-brooke syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Brooke-Spiegler syndrome.
Explore research for Brooke-Spiegler syndrome
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- Eligibility is confirmed by the study team
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