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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
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
CytoplasmCytoplasm, perinuclear regionCytoplasm, cytoskeletonCell membraneCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, cilium basal body
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.
Variantes genéticas (ClinVar)
107 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 131 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Brooke-Spiegler
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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.
Publicações mais relevantes
Scalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.
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.
Multiple Skin Adnexal Tumours with Possible Syndromic Association.
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.
CYLD Cutaneous Syndrome and Associated Salivary Gland Pathology: A Systematic Review.
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.
Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
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.
[Brooke-Spiegler syndrome: dermatosurgical management of extensive tumors on the external auditory canal].
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
Cytomorphological Features of Scalp Cylindroma: Insights From Fine Needle Aspiration Cytology.
A Familial Case of CYLD Cutaneous Syndrome With a Novel Nonsense Mutation in Japanese.
Scalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.
Multiple Skin Adnexal Tumours with Possible Syndromic Association.
CYLD Cutaneous Syndrome and Associated Salivary Gland Pathology: A Systematic Review.
📚 EuropePMC117 artigos no totalmostrando 88
A Familial Case of CYLD Cutaneous Syndrome With a Novel Nonsense Mutation in Japanese.
The Journal of dermatologyScalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.
Plastic and reconstructive surgery. Global openMultiple Skin Adnexal Tumours with Possible Syndromic Association.
CureusCYLD Cutaneous Syndrome and Associated Salivary Gland Pathology: A Systematic Review.
OTO openCYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation.
International journal of dermatologyBrooke-Spiegler Syndrome in Japanese Siblings with an R758X Mutation: A Case Report.
Case reports in dermatologyBrooke-Spiegler Syndrome With Simultaneous Occurrence of Cylindroma, Spiradenoma, and Trichoepithelioma: A Rare Case With Malignant Progression.
Clinical case reportsClinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
Virchows Archiv : an international journal of pathologyCylindroma of the neck in a male patient: a case report.
Journal of medical case reports[Brooke-Spiegler syndrome: dermatosurgical management of extensive tumors on the external auditory canal].
Dermatologie (Heidelberg, Germany)Spiradenocylindroma: Morphology of a Rare Hybrid Adnexal Tumor.
Diagnostic cytopathologySuccessful and Sustained Treatment of Cutaneous Tumoral Lesions in Brooke-Spiegler Syndrome (BSS) Using Ablative CO2 Laser: A Case Series and Literature Review.
Clinical case reportsSurgical Outcomes of Cylindrocarcinoma Treated With Mohs Micrographic Surgery and Excision: A Systematic Review.
Journal of drugs in dermatology : JDDMULTIPLE MUSHROOM-LIKE GROWING CYLINDROMAS OF THE SCALP (TURBAN TUMOR) IN A PATIENT WITH BROOKE-SPIEGLER SYNDROME: UNIQUE MANIFESTATION IN A BULGARIAN PATIENT.
Georgian medical newsCase report: Multiple facial trichoepitheliomas caused by p.Val835SerfsTer52 variant of CYLD gene.
Frontiers in medicineAssociation of Membranous Basal Cell Adenoma and Basal Cell Adenocarcinoma With Brooke-Spiegler Syndrome.
CureusMinimally Invasive Plasma Device Management of Multiple Benign Skin Cancers Associated with Rare Genodermatoses-Case Series and Review of the Therapeutic Methods.
Journal of clinical medicineFacial nerve and parotid gland involvement in Brooke-Spiegler syndrome.
International journal of dermatologyA Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature.
Journal of clinical medicineBleomycin Electrochemotherapy of Dermal Cylindroma as an Alternative Treatment in a Rare Adnexal Neoplasm: A Case Report and Literature Review.
BiomedicinesMorpheaform 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 & hand surgeryAutosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.
American journal of medical genetics. Part C, Seminars in medical geneticsBrooke-Spiegler Syndrome: Age-Related Progression in a Family Group.
Dermatology practical & conceptualBrooke-Spiegler syndrome: radiotherapy as the last resort?
Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]Facial Trichoepitheliomas Revealing the Rare Brooke-Spiegler Syndrome.
International journal of trichologyBrooke-Spiegler syndrome.
Medicina clinicaBrooke-Spiegler Syndrome with Parotid Gland Involvement.
SkinmedA purplish plaque and multiple nodules on the arm.
JAAD case reportsGiant Vascular Cylindroma in a Case of Brooke-Spiegler Syndrome.
Indian dermatology online journalMalignant eccrine spiradenocylindroma and parotid gland involvement in Brooke Spiegler syndrome.
Dermatology reportsA rare histopathological spiradenocylindroma: a case report.
La Clinica terapeuticaWhole Scalp Radiation Therapy for Recurrent Benign Cylindromas.
Case reports in dermatologyLaser-assisted delivery of imiquimod in Brooke-Spiegler syndrome.
Anais brasileiros de dermatologiaUpdate from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.
Head and neck pathology[Brooke-Spiegler syndrome: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyMetastatic Spiradenocarcinoma Managed With PD-1 Inhibition.
Journal of the National Comprehensive Cancer Network : JNCCNGynaecological cylindroma in association with CYLD gene mutation.
Oxford medical case reportsExophytic growth on nasal ala.
JAAD case reportsGenetic Testing in CYLD Cutaneous Syndrome: An Update.
The application of clinical geneticsTurban Tumor Syndrome: In Search of a Gold Standard - A Case Report.
Skin appendage disordersBrooke-Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome.
Case reports in dermatological medicineTRAF3 and NBR1 both influence the effect of the disease-causing CYLD(Arg936X) mutation on NF-κB activity.
Experimental dermatologyBrooke-Spiegler Syndrome With Cervical Spine Lesion.
CureusSurgical Treatment of Brooke-Spiegler Syndrome.
The Journal of craniofacial surgeryMetaplastic spiradenocarcinoma: Report of two cases with sarcomatous differentiation.
Journal of cutaneous pathologyTreatment 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 dermatologyCan we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaMetastatic 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 : JDDGA novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.
Molecular genetics & genomic medicineIdentification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome.
Experimental dermatologyEpigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.
Nature communications[Cylindromas-rare but striking].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteDiverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.
Journal of the American Academy of DermatologyTrichoblastic carcinoma arising in trichoepithelioma in Brooke-Spiegler syndrome.
Indian journal of pathology & microbiology[Free latissimus dorsi flap lacing and local care in two-stage scalp reconstruction].
Annales de chirurgie plastique et esthetiqueA trichogenic tumor with aggressive features initially diagnosed as basal cell carcinoma.
Dermatology online journalClinical, genetic and experimental studies of the Brooke-Spiegler (CYLD) skin tumor syndrome.
Journal of plastic surgery and hand surgeryBrooke-Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis.
The Journal of dermatologyBrooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma.
The American Journal of dermatopathologyA 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 reportsTurban Tumor: A Classical Presentation of Brooke-Spiegler Syndrome.
Indian dermatology online journalPhenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.
Archives of dermatological researchp63 and smooth muscle actin expression in low-grade spiradenocarcinomas in a case of CYLD cutaneous syndrome.
Journal of cutaneous pathology[Turban tumour with intracranial invasion].
Ugeskrift for laegerCYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADVBrooke-Spiegler syndrome: focus on reflectance confocal microscopy findings of trichoepithelioma and flat cylindroma.
Clinical and experimental dermatologyA Simple and Effective Method for Treating Cylindromas in Brooke-Spiegler Syndrome.
Actas dermo-sifiliograficasAn Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
Head and neck pathologySporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss.
The American Journal of dermatopathologyUnderstanding Inherited Cylindromas: Clinical Implications of Gene Discovery.
Dermatologic clinicsHeterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome.
Indian journal of dermatologyThe cylindromatosis (CYLD) gene and head and neck tumorigenesis.
Cancers of the head & neckEccrine cylindroma of the face and scalp.
Indian dermatology online journalCutaneous cylindroma: it's all about MYB.
The Journal of pathologyA rare case of eccrine spiradenoma-treatment and management.
European journal of plastic surgeryBrooke-Spiegler Syndrome and Phenotypic Variants: An Update.
Head and neck pathologyOverexpression of MYB drives proliferation of CYLD-defective cylindroma cells.
The Journal of pathologyBasal Cell Carcinoma in a Patient With Brooke-Spiegler Syndrome.
SkinmedThe 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 geneticsA 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 oncologyBrooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation.
Journal of dermatological case reportsReport 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)Malignant cylindroma in a patient with Brooke-Spiegler syndrome.
Dermatology practical & conceptualBrooke-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 cytopathologyA novel CYLD gene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome.
Clinical and experimental dermatologyPhenotype-genotype correlations for clinical variants caused by CYLD mutations.
European journal of medical geneticsCYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas.
PLoS currentsThe surgical treatment of familial cylindromatosis through subgaleal scalp excision.
Case reports in plastic surgery & hand surgeryAssociações
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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.
- Scalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.
- Multiple Skin Adnexal Tumours with Possible Syndromic Association.
- CYLD Cutaneous Syndrome and Associated Salivary Gland Pathology: A Systematic Review.
- Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
- [Brooke-Spiegler syndrome: dermatosurgical management of extensive tumors on the external auditory canal].
- Cytomorphological Features of Scalp Cylindroma: Insights From Fine Needle Aspiration Cytology.
- A Familial Case of CYLD Cutaneous Syndrome With a Novel Nonsense Mutation in Japanese.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79493(Orphanet)
- OMIM OMIM:605041(OMIM)
- MONDO:0011512(MONDO)
- GARD:10179(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
