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Síndrome Brooke-Spiegler
ORPHA:79493CID-10 · D23.4CID-11 · 2F22OMIM 605041DOENÇA RARA

A síndrome de Brooke-Spiegler (BSS) é uma síndrome de predisposição hereditária que se apresenta com tumores de anexos cutâneos, nomeadamente cilindromas, espiradenomas e tricoepiteliomas. Uma minoria de pacientes também pode desenvolver neoplasias das glândulas salivares maiores e menores, geralmente adenoma basocelular membranoso.

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Introdução

O que você precisa saber de cara

📋

A síndrome de Brooke-Spiegler (BSS) é uma síndrome de predisposição hereditária que se apresenta com tumores de anexos cutâneos, nomeadamente cilindromas, espiradenomas e tricoepiteliomas. Uma minoria de pacientes também pode desenvolver neoplasias das glândulas salivares maiores e menores, geralmente adenoma basocelular membranoso.

Publicações científicas
195 artigos
Último publicado: 2026 Mar 27

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
100
pacientes catalogados
Início
Adolescent
+ adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D23.4
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
8 sintomas
😀
Face
3 sintomas
👂
Ouvidos
2 sintomas
👁️
Olhos
2 sintomas
🩸
Sangue
1 sintomas

+ 12 sintomas em outras categorias

Características mais comuns

90%prev.
Cilindroma
Muito frequente (99-80%)
55%prev.
Nódulo cutâneo
Frequente (79-30%)
55%prev.
Morfologia anormal do pescoço
Frequente (79-30%)
55%prev.
Tricoepitelioma
Frequente (79-30%)
55%prev.
Neoplasia de anexo cutâneo
Frequente (79-30%)
55%prev.
Anormalidade da face
Frequente (79-30%)
28sintomas
Muito frequente (1)
Frequente (6)
Ocasional (6)
Muito raro (7)
Sem dados (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.

CilindromaCylindroma
Muito frequente (99-80%)90%
Nódulo cutâneoSkin nodule
Frequente (79-30%)55%
Morfologia anormal do pescoçoAbnormality of the neck
Frequente (79-30%)55%
TricoepiteliomaTrichoepithelioma
Frequente (79-30%)55%
Neoplasia de anexo cutâneoSkin appendage neoplasm
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico195PubMed
Últimos 10 anos90publicações
Pico201611 papers
Linha do tempo
2026Hoje · 2026📈 2016Ano de pico🧪 2023Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

CYLDUbiquitin carboxyl-terminal hydrolase CYLDDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-induced necroptosis (PubMed:18313383, PubMed:18636086, PubMed:26670046, PubMed:26997266, PubMed:27458237, PubMed:27591049, PubMed:27746020, PubMed:29291351, PubMed:32185393). Negatively regulates NF-kappa-B activation by deubiquitinating upstream signaling factors (PubMed:12917689, PubMed:12917691, PubMed:32185393). Contributes to the regulation of ce

LOCALIZAÇÃO

CytoplasmCytoplasm, perinuclear regionCytoplasm, cytoskeletonCell membraneCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, cilium basal body

VIAS BIOLÓGICAS (6)
NOD1/2 Signaling PathwayUb-specific processing proteasesNegative regulators of DDX58/IFIH1 signalingTNFR1-induced proapoptotic signalingTNFR1-induced NF-kappa-B signaling pathway
MECANISMO DE DOENÇA

Cylindromatosis, familial

A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
45.5 TPM
Artéria tibial
26.4 TPM
Baço
25.6 TPM
Aorta
24.3 TPM
Pituitária
22.6 TPM
OUTRAS DOENÇAS (5)
trichoepithelioma, multiple familial, 1frontotemporal dementia and/or amyotrophic lateral sclerosis 8familial cylindromatosisBrooke-Spiegler syndrome
HGNC:2584UniProt:Q9NQC7

Variantes genéticas (ClinVar)

107 variantes patogênicas registradas no ClinVar.

🧬 CYLD: NM_001378743.1(CYLD):c.2158del (p.Glu720fs) ()
🧬 CYLD: NM_001378743.1(CYLD):c.703A>T (p.Arg235Ter) ()
🧬 CYLD: NM_001378743.1(CYLD):c.2298del (p.Phe766fs) ()
🧬 CYLD: NM_001378743.1(CYLD):c.1165dup (p.Thr389fs) ()
🧬 CYLD: NM_001378743.1(CYLD):c.1896T>A (p.Tyr632Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 131 variantes classificadas pelo ClinVar.

13
111
7
Patogênica (9.9%)
VUS (84.7%)
Benigna (5.3%)
VARIANTES MAIS SIGNIFICATIVAS
CYLD: NM_001378743.1(CYLD):c.2723dup (p.Cys909fs) [Likely pathogenic]
CYLD: NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer) [Likely pathogenic]
CYLD: NM_001378743.1(CYLD):c.1027A>G (p.Thr343Ala) [Uncertain significance]
CYLD: NM_001378743.1(CYLD):c.244C>T (p.Leu82Phe) [Uncertain significance]
CYLD: NM_001378743.1(CYLD):c.100C>A (p.Gln34Lys) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Brooke-Spiegler

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
93 papers (10 anos)
#1

Scalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.

Plastic and reconstructive surgery. Global open2026 Mar

Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant condition characterized by multiple adnexal tumors, including cylindromas, most commonly affecting the scalp. Standard management involves surgical excision followed by reconstruction with split-thickness skin grafts (STSGs) or local flaps. However, STSGs introduce donor-site morbidity, have suboptimal color match, are prone to contraction, and preclude future hair grafting. Synthetic dermal substitutes have been used in combination with STSGs, but their use alone in BSS has not been described. We report the case of a 48-year-old woman with BSS and multiple medical comorbidities who presented with more than 60 painful scalp cylindromas. She underwent staged excision of lesions to the level of the periosteum. Reconstruction was performed using NovoSorb Biodegradable Temporizing Matrix (BTM) alone, without STSGs. The matrix demonstrated successful integration and progressive secondary epithelialization. Complete epithelialization occurred within several weeks following each excision stage, and no complications or malignant transformation were observed. The patient avoided donor-site morbidity and the additional operative time associated with STSGs. This case represents a likely first reported instance of single-stage reconstruction using BTM alone following scalp cylindroma excision in a patient with BSS. The outcome suggests that BTM can provide durable coverage and acceptable cosmetic results while reducing surgical burden in medically complex patients. BTM may be considered a practical alternative to traditional graft-based reconstruction in selected cases of extensive scalp involvement in BSS.

#2

Multiple Skin Adnexal Tumours with Possible Syndromic Association.

Cureus2026 Jan

Brooke-Spiegler syndrome (BSS), multiple familial trichoepithelioma (MFT1) and familial cylindromatosis (FC) are autosomal dominant tumor syndromes that predispose individuals to multiple benign and malignant tumors, morphologically related to the adnexal structures of the skin. As allelic conditions caused by mutations in the CYLD gene, they are considered variants of a spectrum termed CYLD cutaneous syndrome (CCS). Patients commonly present with multiple adnexal tumors, such as cylindromas, trichoepitheliomas and spiradenomas, gradually increasing in size and number. Here, we report the case of a woman in her fifties who presented with an infected wound and multiple enlarging skin tumors over the face, scalp and upper back. Histopathological studies confirmed multiple skin adnexal tumors with features of eccrine spiradenoma, foci of trichoepithelioma and cylindroma areas. The patient underwent excision of the lesions with skin grafts and, given the possibility of syndromic association, was advised CYLD gene testing.

#3

CYLD Cutaneous Syndrome and Associated Salivary Gland Pathology: A Systematic Review.

OTO open2026

To characterize salivary gland pathology and neoplasms associated with CYLD cutaneous syndrome, including location, risk of malignancy, and management practices. MEDLINE Ovid, Embase, Cochrane CENTRAL, and Scopus. Following Preferred Reporting Items for Systematic Review and Meta-analyses (PRISMA) guidelines, a database search was performed to identify articles describing salivary gland lesions in the setting of CYLD cutaneous syndrome. Twenty-six articles meeting the inclusion criteria were identified, describing 31 patients with CYLD cutaneous syndrome who presented with salivary gland neoplasms. Mean age was 61.0 years (range 37-76). Sixteen (51.6%) patients were male, 12 (38.7%) female, and 3 (9.7%) did not specify patient sex. Neoplasms were located in the parotid gland in 27 (87.1%) patients, both the parotid and submandibular glands in 2 (6.5%) patients, the submandibular gland in 1 (3.2%) patient, and minor salivary glands in 1 (3.2%) patient. Fifteen (48.4%) neoplasms were reported as multifocal, and 9 (29.0%) patients presented with salivary gland malignancy during their disease course. Eight (25.8%) cases reported recurrence at a mean of 3.8 (range 1-10) years. Salivary gland lesions presenting in the setting of CYLD cutaneous syndrome occur predominantly in the parotid gland. Tumors frequently present with multifocal and malignant pathology, and warrant definitive surgical excision with parotidectomy.

#4

Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.

Virchows Archiv : an international journal of pathology2026 Mar

Trichoblastoma (TB) is a benign primitive follicular neoplasm that can occur in the setting of Brooke-Spiegler syndrome (CYLD mutations), in association with nevus sebaceous (mosaic HRAS mutations), or sporadically. We studied the histopathologic and molecular features of 16 sporadic trichoblastic neoplasms, including a case of trichogerminoma and a case of trichoblastic carcinoma arising within a TB. Sixteen tumors were identified in nine males and seven females (median age 64 years, range 33-97 years) involving the scalp (4), back (2), nasolabial fold (1), cheek (1), skin overlying the parotid gland (1), nasal ala (1), ear (1), upper chest (1), gluteal region (1), thigh (1), leg (1), and ankle (1) with a median size of 1.6 cm (range 1.2-7.0 cm). Histologically, 16 cases consisted of a dermal multinodular growth of basaloid epithelial cells surrounded by fibrotic stroma without epidermal connection. Malignant transformation was observed in one case, characterized by increased atypia and mitotic activity. Another case exhibited focal areas of "cell balls," indicative of trichogerminoma. RNA sequencing of six tumors showed a high tumor mutational burden (TMB) and lacked a UV-related mutational signature, which may help distinguish trichoblastic tumors from potential mimics. Additionally, a FOXK1::GRHL1 fusion was found in the case of trichogerminoma. Clinical follow-up (15/16 patients; 94%; median: 65 months; range 2.5-106.5 months) showed no evidence of residual or metastatic disease.

#5

[Brooke-Spiegler syndrome: dermatosurgical management of extensive tumors on the external auditory canal].

Dermatologie (Heidelberg, Germany)2026 Jan

Brooke-Spiegler syndrome is a rare autosomal dominant disorder leading to the development of multiple benign adnexal tumors. A 65-year-old patient with a positive family history and multiple trichoepitheliomas and cylindromas has been receiving intermittent dermatological care at our department. In February 2025, tumors on the right ear were excised due to near-complete occlusion of the external auditory canal. This case highlights the importance of individualized dermatosurgical management in Brooke-Spiegler syndrome to achieve functional restoration and esthetic improvement. Das Brooke-Spiegler-Syndrom ist eine seltene, autosomal-dominante Erkrankung, die zu multiplen benignen Adnextumoren führt. Ein 65-jähriger Patient mit bekannter familiärer Belastung wird aufgrund multipler Trichoepitheliome und Zylindrome intermittierend in unserer Hautklinik behandelt. Zuletzt erfolgten im Februar 2025 operative Eingriffe am rechten Ohr bei nahezu vollständiger Verlegung des äußeren Gehörgangs. Der Fall verdeutlicht die Bedeutung einer individualisierten dermatochirurgischen Therapie beim Brooke-Spiegler-Syndrom zur funktionellen und ästhetischen Verbesserung.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC117 artigos no totalmostrando 88

2026

A Familial Case of CYLD Cutaneous Syndrome With a Novel Nonsense Mutation in Japanese.

The Journal of dermatology
2026

Scalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.

Plastic and reconstructive surgery. Global open
2026

Multiple Skin Adnexal Tumours with Possible Syndromic Association.

Cureus
2026

CYLD Cutaneous Syndrome and Associated Salivary Gland Pathology: A Systematic Review.

OTO open
2026

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation.

International journal of dermatology
2025

Brooke-Spiegler Syndrome in Japanese Siblings with an R758X Mutation: A Case Report.

Case reports in dermatology
2025

Brooke-Spiegler Syndrome With Simultaneous Occurrence of Cylindroma, Spiradenoma, and Trichoepithelioma: A Rare Case With Malignant Progression.

Clinical case reports
2026

Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.

Virchows Archiv : an international journal of pathology
2025

Cylindroma of the neck in a male patient: a case report.

Journal of medical case reports
2026

[Brooke-Spiegler syndrome: dermatosurgical management of extensive tumors on the external auditory canal].

Dermatologie (Heidelberg, Germany)
2025

Spiradenocylindroma: Morphology of a Rare Hybrid Adnexal Tumor.

Diagnostic cytopathology
2025

Successful and Sustained Treatment of Cutaneous Tumoral Lesions in Brooke-Spiegler Syndrome (BSS) Using Ablative CO2 Laser: A Case Series and Literature Review.

Clinical case reports
2025

Surgical Outcomes of Cylindrocarcinoma Treated With Mohs Micrographic Surgery and Excision: A Systematic Review.

Journal of drugs in dermatology : JDD
2024

MULTIPLE MUSHROOM-LIKE GROWING CYLINDROMAS OF THE SCALP (TURBAN TUMOR) IN A PATIENT WITH BROOKE-SPIEGLER SYNDROME: UNIQUE MANIFESTATION IN A BULGARIAN PATIENT.

Georgian medical news
2024

Case report: Multiple facial trichoepitheliomas caused by p.Val835SerfsTer52 variant of CYLD gene.

Frontiers in medicine
2024

Association of Membranous Basal Cell Adenoma and Basal Cell Adenocarcinoma With Brooke-Spiegler Syndrome.

Cureus
2024

Minimally Invasive Plasma Device Management of Multiple Benign Skin Cancers Associated with Rare Genodermatoses-Case Series and Review of the Therapeutic Methods.

Journal of clinical medicine
2024

Facial nerve and parotid gland involvement in Brooke-Spiegler syndrome.

International journal of dermatology
2024

A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature.

Journal of clinical medicine
2023

Bleomycin Electrochemotherapy of Dermal Cylindroma as an Alternative Treatment in a Rare Adnexal Neoplasm: A Case Report and Literature Review.

Biomedicines
2023

Morpheaform basal cell carcinoma of the nasal ala associated with multiple familial trichoepithelioma reconstructed by anterolateral thigh flap: a case report.

Case reports in plastic surgery &amp; hand surgery
2023

Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.

American journal of medical genetics. Part C, Seminars in medical genetics
2023

Brooke-Spiegler Syndrome: Age-Related Progression in a Family Group.

Dermatology practical &amp; conceptual
2023

Brooke-Spiegler syndrome: radiotherapy as the last resort?

Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]
2022

Facial Trichoepitheliomas Revealing the Rare Brooke-Spiegler Syndrome.

International journal of trichology
2023

Brooke-Spiegler syndrome.

Medicina clinica
2023

Brooke-Spiegler Syndrome with Parotid Gland Involvement.

Skinmed
2023

A purplish plaque and multiple nodules on the arm.

JAAD case reports
2022

Giant Vascular Cylindroma in a Case of Brooke-Spiegler Syndrome.

Indian dermatology online journal
2022

Malignant eccrine spiradenocylindroma and parotid gland involvement in Brooke Spiegler syndrome.

Dermatology reports
2022

A rare histopathological spiradenocylindroma: a case report.

La Clinica terapeutica
2022

Whole Scalp Radiation Therapy for Recurrent Benign Cylindromas.

Case reports in dermatology
2022

Laser-assisted delivery of imiquimod in Brooke-Spiegler syndrome.

Anais brasileiros de dermatologia
2022

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head and neck pathology
2022

[Brooke-Spiegler syndrome: report of a case].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2022

Metastatic Spiradenocarcinoma Managed With PD-1 Inhibition.

Journal of the National Comprehensive Cancer Network : JNCCN
2022

Gynaecological cylindroma in association with CYLD gene mutation.

Oxford medical case reports
2022

Exophytic growth on nasal ala.

JAAD case reports
2021

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

The application of clinical genetics
2021

Turban Tumor Syndrome: In Search of a Gold Standard - A Case Report.

Skin appendage disorders
2021

Brooke-Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome.

Case reports in dermatological medicine
2021

TRAF3 and NBR1 both influence the effect of the disease-causing CYLD(Arg936X) mutation on NF-κB activity.

Experimental dermatology
2020

Brooke-Spiegler Syndrome With Cervical Spine Lesion.

Cureus
2021

Surgical Treatment of Brooke-Spiegler Syndrome.

The Journal of craniofacial surgery
2021

Metaplastic spiradenocarcinoma: Report of two cases with sarcomatous differentiation.

Journal of cutaneous pathology
2020

Treatment of Brooke-Spiegler Syndrome Trichoepitheliomas with Erbium: Yttrium-Aluminum-Garnet Laser: A Case Report and Review of the Literature.

The Journal of clinical and aesthetic dermatology
2020

Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?

Acta dermatovenerologica Alpina, Pannonica, et Adriatica
2021

Metastatic cylindrocarcinoma in Brooke-Spiegler Syndrome - Report of a case and review of the literature.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2020

A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.

Molecular genetics &amp; genomic medicine
2020

Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.

Experimental dermatology
2019

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Nature communications
2019

[Cylindromas-rare but striking].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2019

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.

Journal of the American Academy of Dermatology
2019

Trichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome.

Indian journal of pathology &amp; microbiology
2019

[Free latissimus dorsi flap lacing and local care in two-stage scalp reconstruction].

Annales de chirurgie plastique et esthetique
2018

A trichogenic tumor with aggressive features initially diagnosed as basal cell carcinoma.

Dermatology online journal
2019

Clinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome.

Journal of plastic surgery and hand surgery
2019

Brooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis.

The Journal of dermatology
2019

Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma.

The American Journal of dermatopathology
2018

A rare case of Brooke-Spiegler syndrome: integrated surgical treatment of multiple giant eccrine spiradenomas of the head and neck in a young girl.

International journal of surgery case reports
2018

Turban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome.

Indian dermatology online journal
2018

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.

Archives of dermatological research
2018

p63 and smooth muscle actin expression in low-grade spiradenocarcinomas in a case of CYLD cutaneous syndrome.

Journal of cutaneous pathology
2018

[Turban tumour with intracranial invasion].

Ugeskrift for laeger
2018

CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome.

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

Brooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma.

Clinical and experimental dermatology
2017

A Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome.

Actas dermo-sifiliograficas
2017

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.

Head and neck pathology
2017

Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss.

The American Journal of dermatopathology
2017

Understanding Inherited Cylindromas: Clinical Implications of Gene Discovery.

Dermatologic clinics
2016

Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome.

Indian journal of dermatology
2016

The cylindromatosis (CYLD) gene and head and neck tumorigenesis.

Cancers of the head &amp; neck
2016

Eccrine cylindroma of the face and scalp.

Indian dermatology online journal
2016

Cutaneous cylindroma: it's all about MYB.

The Journal of pathology
2016

A rare case of eccrine spiradenoma-treatment and management.

European journal of plastic surgery
2016

Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.

Head and neck pathology
2016

Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells.

The Journal of pathology
2015

Basal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome.

Skinmed
2016

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.

BMC genetics
2016

A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma.

Journal of cancer research and clinical oncology
2015

Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation.

Journal of dermatological case reports
2016

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.

Dermatology (Basel, Switzerland)
2015

Malignant cylindroma in a patient with Brooke-Spiegler syndrome.

Dermatology practical &amp; conceptual
2015

Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene.

Diagnostic cytopathology
2016

A novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome.

Clinical and experimental dermatology
2015

Phenotype-genotype correlations for clinical variants caused by CYLD mutations.

European journal of medical genetics
2015

CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas.

PLoS currents
2015

The surgical treatment of familial cylindromatosis through subgaleal scalp excision.

Case reports in plastic surgery &amp; hand surgery
Ver todos os 117 no EuropePMC

Associações

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Scalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.
    Plastic and reconstructive surgery. Global open· 2026· PMID 41777876mais citado
  2. Multiple Skin Adnexal Tumours with Possible Syndromic Association.
    Cureus· 2026· PMID 41769434mais citado
  3. CYLD Cutaneous Syndrome and Associated Salivary Gland Pathology: A Systematic Review.
    OTO open· 2026· PMID 41658315mais citado
  4. Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
    Virchows Archiv : an international journal of pathology· 2026· PMID 41203975mais citado
  5. [Brooke-Spiegler syndrome: dermatosurgical management of extensive tumors on the external auditory canal].
    Dermatologie (Heidelberg, Germany)· 2026· PMID 41099818mais citado
  6. Cytomorphological Features of Scalp Cylindroma: Insights From Fine Needle Aspiration Cytology.
    Cytopathology· 2026· PMID 41891533recente
  7. A Familial Case of CYLD Cutaneous Syndrome With a Novel Nonsense Mutation in Japanese.
    J Dermatol· 2026· PMID 41848219recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79493(Orphanet)
  2. OMIM OMIM:605041(OMIM)
  3. MONDO:0011512(MONDO)
  4. GARD:10179(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q18553408(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Brooke-Spiegler
Compêndio · Raras BR

Síndrome Brooke-Spiegler

ORPHA:79493 · MONDO:0011512
Prevalência
<1 / 1 000 000
Casos
100 casos conhecidos
Herança
Autosomal dominant
CID-10
D23.4 · Neoplasia benigna da pele do couro cabeludo e do pescoço
CID-11
Início
Adolescent, Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1857941
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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