Living with Familial multiple trichoepitheliomata
An inherited skin condition with many smooth, round hair-follicle growths, mostly on the face, starting in childhood or the teen years.
Understanding Familial multiple trichoepitheliomata
The tumors are usually noncancerous but occasionally become a skin cancer called basal cell carcinoma. They usually begin in childhood or adolescence, mostly on the face, and can grow larger and more numerous over time. In severe cases they may get in the way of the eyes, ears, nose, or mouth. Females are often more severely affected than males.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small, smooth, round bumps (papules)
- Firm lumps under the skin
- Tiny visible blood vessels (telangiectasia)
- Growths mostly on the face and nose folds
- Growths on the neck, scalp, or trunk
- Sometimes basal cell carcinoma
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 it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: epithelioma adenoides cysticum of brooke; familial multiple trichoepithelioma
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 Familial multiple trichoepitheliomata.
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