ORPHA:79493

Brooke-Spiegler syndrome

Synonyms: CYLD cutaneous syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adolescent, Adult
Status: active

A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Brooke-Spiegler syndrome	CYLD cutaneous syndrome
fr	Syndrome de Brooke-Spiegler	Syndrome CYLD cutané
de	Brooke-Spiegler-Syndrom	Kutanes CYLD-Syndrom
es	Síndrome de Brooke-Spiegler	Síndrome cutáneo CYLD
it	Sindrome di Brooke-Spiegler	Sindrome cutanea CYLD
nl	Syndroom van Brooke-Spiegler	CYLD cutaan syndroom
pt	Síndrome Brooke-Spiegler	Síndrome cutâneo CYLD
pl	Zespół Brooke'a i Spieglera	Zespół skórny CYLD
cs	Brookeho-Spieglerův syndrom	CYLD kutánní syndrom · Brooke-Spieglerův syndrom
uk	Синдром Брука-Шпіглера	Шкірний синдром CYLD
zh	Brooke-Spiegler综合征	CYLD皮肤综合征
tr	Brooke-Spiegler sendromu	CYLD kutanöz sendrom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	132700	BTNT		validated
OMIM	601606	BTNT		validated
OMIM	605041	E		validated
OMIM	612099	BTNT		validated
ICD-10	D23.4	NTBT	attributed	validated
ICD-10	D23.5	NTBT	attributed	validated
ICD-11	2F22	NTBT	index	validated
MONDO	0011512	E		validated
UMLS	C1857941	E		validated
GARD	10179	E		validated
MedDRA	10087912	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:89826Rare skin disease

Parents in the classifications (2):

ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases
ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases

Children (2):

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CYLD	ORPHA:211Familial cylindromatosis	Disease-causing germline mutation(s) in	Assessed	HGNC:2584	ENSG00000083799	605018	16q12.1	CYLD lysine 63 deubiquitinase	19462465[PMID]
CYLD	ORPHA:867Familial multiple trichoepithelioma	Disease-causing germline mutation(s) in	Assessed	HGNC:2584	ENSG00000083799	605018	16q12.1	CYLD lysine 63 deubiquitinase	19462465[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		100 cases	Worldwide	Case(s)	Validated	Dr Neil RAJAN[EXPERT]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_Dr Neil RAJAN[EXPERT]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

20 annotations · validated 2019-11-19

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0031024	Cylindroma
Frequent (79-30%)
HP:0000271	Abnormality of the face
HP:0000464	Abnormality of the neck
HP:0001965	Abnormality of the scalp
HP:0012842	Skin appendage neoplasm
HP:0200036	Skin nodule
HP:0025367	Trichoepithelioma
Occasional (29-5%)
HP:0001892	Abnormal bleeding
HP:0002671	Basal cell carcinoma
HP:0007606	Multiple cutaneous malignancies
HP:0010732	Nodular changes affecting the eyelids
HP:0200042	Skin ulcer
HP:0025512	Skin-colored papule
Very rare (<4-1%)
HP:0000372	Abnormality of the auditory canal
HP:0010288	Abnormality of the sublingual glands
HP:0010287	Abnormality of the submandibular glands
HP:0010628	Facial palsy
HP:0000365	Hearing impairment
HP:0100684	Salivary gland neoplasm
HP:0000505	Visual impairment

Run the differential on the 1 obligate / very frequent terms

Annotation source: 24587929[PMID]_26971504[PMID]_30093932[PMID]_15854031[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/79493
This record as JSON: /data/d/79493.json