Brooke-Spiegler syndrome
Findings
No curated finding names Brooke-Spiegler syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.
Definition from the Mondo Disease Ontology (MONDO:0011512), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CylindromaHPOHP:0031024
- Very frequent (80% to 99% of cases)
- Abnormal scalp morphologyHPOHP:0001965
- Frequent (30% to 79% of cases)
- Abnormality of the faceHPOHP:0000271
- Frequent (30% to 79% of cases)
- Abnormality of the neckHPOHP:0000464
- Frequent (30% to 79% of cases)
- Skin appendage neoplasmHPOHP:0012842
- Frequent (30% to 79% of cases)
- Skin noduleHPOHP:0200036
- Frequent (30% to 79% of cases)
- TrichoepitheliomaHPOHP:0025367
- Frequent (30% to 79% of cases)
- Abnormal bleedingHPOHP:0001892
- Occasional (5% to 29% of cases)
- Basal cell carcinomaHPOHP:0002671
- Occasional (5% to 29% of cases)
- Multiple cutaneous malignanciesHPOHP:0007606
- Occasional (5% to 29% of cases)
- Nodular changes affecting the eyelidsHPOHP:0010732
- Occasional (5% to 29% of cases)
- Skin ulcerHPOHP:0200042
- Occasional (5% to 29% of cases)
Show the remaining 8
- Skin-colored papuleHPOHP:0025512
- Occasional (5% to 29% of cases)
- Abnormal auditory canal morphologyHPOHP:0000372
- Very rare (1% to 4% of cases)
- Abnormality of the sublingual glandsHPOHP:0010288
- Very rare (1% to 4% of cases)
- Abnormality of the submandibular glandsHPOHP:0010287
- Very rare (1% to 4% of cases)
- Facial palsyHPOHP:0010628
- Very rare (1% to 4% of cases)
- Hearing impairmentHPOHP:0000365
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYLDHGNC:2584
- Definitive · Ambry Genetics · Autosomal dominant · 2016
- Definitive · ClinGen · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: Brooke-Spiegler syndrome
- Also called
- CYLD cutaneous syndrome