ConditionSkin, hair & nails
Multiple Familial Trichoepithelioma
Multiple familial trichoepithelioma (MFT) is a rare inherited skin condition that causes many small, firm, skin-colored bumps, mainly around the nose, cheeks, forehead and upper lip. The bumps are benign tumors of hair follicle cells. They usually appear in childhood or around puberty and slowly increase in number. The condition is usually caused by a change in the CYLD gene. It is not dangerous in itself, but the bumps can be removed for appearance, and any that change need checking for skin cancer.
Also called: MFT, familial trichoepithelioma, epithelioma adenoides cysticum (Brooke disease), CYLD cutaneous syndrome (related spectrum)
At a glance
- What it is
- An inherited tendency to develop many benign hair follicle tumors (trichoepitheliomas) on the face.
- Cause
- Usually a variant in the CYLD gene, inherited in an autosomal dominant pattern.
- Look
- Firm, smooth, round, skin-colored or pinkish bumps, 2 to 8 mm, clustered around the nose.
- Onset
- Childhood or adolescence, increasing in number through adult life.
- Treatment
- Laser resurfacing, electrosurgery, dermabrasion or surgical removal; bumps tend to recur.
When to get help
See a doctor within a day or two
- One bump that suddenly grows, bleeds, ulcerates or looks different from the others, which may be a basal cell carcinoma
- A large, firm lump on the scalp that grows quickly
Book a routine appointment
- Several small skin-colored bumps on a child's face that keep increasing, especially if a parent has similar bumps
- Bumps that affect self-esteem, vision (near the eyelids) or breathing through the nose
- Planning a pregnancy with a known CYLD variant: genetic counseling
What is a trichoepithelioma?
A trichoepithelioma is a benign growth made of cells that would normally form a hair follicle. A single trichoepithelioma can occur in anyone and is not inherited. In MFT, dozens to hundreds develop, usually symmetrically on the central face.
Trichoepitheliomas look like small pearls under the skin. They are:
- Firm, smooth and round, 2 to 8 mm across
- Skin-colored, pink or slightly translucent, sometimes with fine surface blood vessels
- Concentrated in the creases beside the nose (nasolabial folds), on the nose, cheeks, upper lip and forehead
- Sometimes also on the scalp, neck and upper trunk
- Usually painless and not itchy
Over time, bumps can merge into larger plaques, particularly around the nose.
Causes and inheritance
Most families have a variant in the CYLD gene on chromosome 16, a tumor suppressor gene that normally helps control cell growth. The pattern is autosomal dominant: a parent with the variant has a 50% chance of passing it to each child. Growths form when a second, acquired change knocks out the working copy of the gene in individual skin cells, which is why bumps appear gradually through life.
Severity varies even within the same family. Women are often more severely affected than men. In some families with MFT, no CYLD variant is found, suggesting other genes are involved.
Related conditions in the CYLD spectrum
The same gene causes overlapping conditions, now grouped as CYLD cutaneous syndrome:
- Multiple familial trichoepithelioma: mainly trichoepitheliomas
- Familial cylindromatosis: mainly cylindromas, pink or red lumps on the scalp that can grow large ("turban tumors")
- Brooke-Spiegler syndrome: a mix of trichoepitheliomas, cylindromas and spiradenomas (painful skin nodules)
Rarely, salivary gland tumors also occur.
Is it cancer?
No. Trichoepitheliomas are benign. A small proportion of people with MFT develop basal cell carcinoma, either arising within an existing bump or nearby, and very rarely cylindromas or spiradenomas turn malignant. Under the microscope, trichoepithelioma and basal cell carcinoma can look similar, so an experienced dermatopathologist is important.
Warning signs of a malignant change are rapid growth, bleeding, ulceration, a crust that does not heal, or one lesion that looks different from the rest.
How it is diagnosed
- Skin examination: the pattern of many similar bumps on the central face starting young, with a family history, strongly suggests MFT. Dermatoscopy (a magnified skin exam) helps.
- Skin biopsy: confirms the diagnosis and rules out basal cell carcinoma.
- Genetic testing for CYLD: confirms the cause and allows testing of relatives.
Conditions that can look similar include:
| Condition | How it differs |
|---|---|
| Facial angiofibromas of tuberous sclerosis | Red-pink bumps on the cheeks and nose, with seizures, white skin patches or other features |
| Syringomas | Small yellowish bumps, mostly around the lower eyelids |
| Trichilemmomas of Cowden syndrome | Wart-like facial bumps, with mouth papillomas and internal tumors |
| Milia | Tiny white surface cysts that can be popped out |
| Basal cell carcinoma | Usually single, enlarging, pearly with a central sore |
Treatment
There is no medicine that cures MFT or stops new bumps forming. Treatment focuses on removing bumps that are bothersome or suspicious:
- Ablative laser resurfacing (CO2 or erbium laser): treats many small bumps at once; can be repeated
- Electrosurgery and curettage: scraping and cauterizing individual bumps
- Dermabrasion: for areas with many bumps
- Surgical excision: for larger or suspicious lesions, with lab examination
- Mohs surgery: for any lesion that becomes basal cell carcinoma, especially on the face
Bumps often regrow or new ones appear, so treatment is usually repeated every few years. Scarring and color changes are possible with all methods, particularly in darker skin. Topical treatments have been tried with limited and inconsistent success; research into drugs that target the CYLD pathway is ongoing.
Living with MFT
- See a dermatologist regularly, at least yearly, to monitor for changes.
- Protect your skin from the sun, which reduces the risk of skin cancer.
- Photograph your face periodically to help spot changes.
- Counseling and peer support can help with the cosmetic and social impact.
- Genetic counseling helps families understand inheritance and testing options.
Frequently asked questions
What is multiple familial trichoepithelioma?
It is a rare inherited condition causing many benign hair follicle tumors, called trichoepitheliomas, mostly on the central face. They appear as small, firm, skin-colored bumps from childhood or puberty and gradually increase. Most cases are caused by a variant in the CYLD gene.
Are trichoepitheliomas cancerous?
No, they are benign growths. A small number of people with many trichoepitheliomas develop basal cell carcinoma, a slow-growing, highly treatable skin cancer. A bump that grows quickly, bleeds or ulcerates should be biopsied.
Can trichoepitheliomas be removed permanently?
Individual bumps can be removed with laser, electrosurgery, dermabrasion or excision, but because the genetic tendency remains, treated bumps may regrow and new ones keep forming. Most people need repeated treatments over the years to keep the skin clear.
Is multiple familial trichoepithelioma hereditary?
Yes. It is inherited in an autosomal dominant pattern, so each child of an affected parent has a 50% chance of inheriting the gene variant. Severity can differ widely between family members. Genetic testing for the CYLD gene can confirm the diagnosis and guide family planning.
Sources
This guide was written from current patient and clinical guidance, including:
- MedlinePlus Genetics: Multiple familial trichoepithelioma
- NIH Genetic and Rare Diseases Information Center (GARD): Multiple familial trichoepithelioma
- NORD: Brooke-Spiegler Syndrome and related CYLD conditions
- DermNet: Trichoepithelioma
- American Academy of Dermatology: Laser resurfacing