A síndrome de Bazex-Dupre-Christol é uma doença de pele hereditária rara, com uma maior chance de desenvolver cânceres de pele basocelulares de início precoce.
Introdução
O que você precisa saber de cara
A síndrome de Bazex-Dupre-Christol é uma doença de pele hereditária rara, com uma maior chance de desenvolver cânceres de pele basocelulares de início precoce.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 Bazex-Dupre-Christol
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A 12-Year-Old Female With Facial Bumps, Body Pits, and Coiled Scalp Hair.
A 12-year-old female presented with multiple milia and skin-coloured papules over face and neck, follicular atrophoderma and hypotrichosis. Family history of similar complaints present in mother and maternal aunt. Biopsy from the skin-coloured papule revealed trichoepithelioma. Multiple milia, hypotrichosis and follicular atrophoderma favour the diagnosis of Bazex-Dupre-Christol syndrome (BDCS) which is an X-linked dominant genodermatosis with BCCs developing later in life. Other conditions with multiple BCCs and milia like Gorlin syndrome, Oley syndrome and Rombo syndrome should be differentiated. Follicular atrophoderma and hypotrichosis with X-linked dominant inheritance favour the diagnosis of BDCS. Management should focus on identifying BCCs at the earliest and genetic counselling.
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome.
Bazex-Dupré-Christol syndrome is a rare genetic condition characterised by basal cell carcinomas, follicular atrophoderma and hypotrichosis. Until recently, the molecular basis of the condition was largely unknown. A recent study has identified a section of duplicated DNA on the X chromosome of those with the condition which appears to be the underlying cause of the syndrome. This case study looks at a family with five affected members over three generations. They had been diagnosed with the syndrome in early life and had previously undergone genetic testing with no cause being found. The index patient within this family has now been identified as having the same duplication as those tested in the initial study.
A rare case of acrokeratosis paraneoplastica (Bazex syndrome) and a literature review.
Acrokeratosis paraneoplastica is a rare and obligate paraneoplastic dermatosis most commonly associated with squamous cell carcinoma of the upper aerodigestive tract and lung. It has also been linked to adenocarcinomas of the lung, colon, and stomach. However, reports of its association with esophageal adenocarcinoma are exceedingly rare, with only one documented case to date. This condition primarily affects middle-aged White men, with limited cases reported in women. Moreover, its occurrence in the Chinese population is uncommon. We herein present a case of acrokeratosis paraneoplastica in a Chinese woman with primary esophageal adenocarcinoma, along with a review of the relevant literature. To our knowledge, this is the first documented instance of paraneoplastic acrokeratosis associated with esophageal adenocarcinoma in a woman.
Whole genome sequencing revealing Xq26.1 intergenic duplications associated with Bazex-Dupré-Christol syndrome in a Chinese family.
Acrokeratosis paraneoplastica (Basex syndrome) with trachyonychia preceding the diagnosis of squamous cell carcinoma of the lung.
Acrokeratosis paraneoplastica (Basex syndrome) is a rare paraneoplastic condition hallmarked by psoriasiform lesion development on acral surfaces, most often related to an underlying squamous cell carcinoma. Patients may also present with nail plate changes. Successful management of this condition can be accomplished by treating the underlying malignancy.
Publicações recentes
A 12-Year-Old Female With Facial Bumps, Body Pits, and Coiled Scalp Hair.
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome.
Whole genome sequencing revealing Xq26.1 intergenic duplications associated with Bazex-Dupré-Christol syndrome in a Chinese family.
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Advanced basal cell carcinoma: What dermatologists need to know about diagnosis.
📚 EuropePMC25 artigos no totalmostrando 45
A 12-Year-Old Female With Facial Bumps, Body Pits, and Coiled Scalp Hair.
Pediatric dermatologyEarly onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome.
European journal of medical geneticsA rare case of acrokeratosis paraneoplastica (Bazex syndrome) and a literature review.
The Journal of international medical researchAcrokeratosis paraneoplastica (Basex syndrome) with trachyonychia preceding the diagnosis of squamous cell carcinoma of the lung.
Dermatology online journalWhole genome sequencing revealing Xq26.1 intergenic duplications associated with Bazex-Dupré-Christol syndrome in a Chinese family.
Journal of the European Academy of Dermatology and Venereology : JEADV[Bazex syndrome: a rare paraneoplastic disease].
Medicina[Translated article] Complete Resolution of Bazex Syndrome After Surgical Treatment of Squamous Cell Carcinoma of the Larynx.
Actas dermo-sifiliograficasAcrokeratosis paraneoplastica in tonsillar carcinoma.
European journal of dermatology : EJDBazex Syndrome in Acute Myeloid Leukemia.
Internal medicine (Tokyo, Japan)A case of Bazex syndrome with type 2 immune response.
European journal of dermatology : EJDGermline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
The British journal of dermatologyAdvanced basal cell carcinoma: What dermatologists need to know about diagnosis.
Journal of the American Academy of DermatologyPili Torti: A Feature of Numerous Congenital and Acquired Conditions.
Journal of clinical medicineA Case of Bazex Syndrome.
Internal medicine (Tokyo, Japan)ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
Communications biologyAcrokeratosis paraneoplastica (Bazex syndrome) as the presenting sign of pancreatic adenocarcinoma.
BMJ case reportsAn Unconventional Presentation of Multiple Myeloma: Bazex Syndrome.
Turkish journal of haematology : official journal of Turkish Society of Haematology[Detecting skin cancer: paraneoplastic skin diseases].
Der InternistParaneoplastic acrokeratosis (Bazex syndrome).
Medicina clinicaParaneoplastic Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome Should Be Treated with Low-dose Prednisolone During Pembrolizumab Therapy.
Internal medicine (Tokyo, Japan)Acrokeratosis paraneoplastica (Bazex syndrome) with bullous lesions.
Indian journal of dermatology, venereology and leprologySynchronous Occurrence of Bazex Syndrome and Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome in a Patient with Lung Cancer.
Internal medicine (Tokyo, Japan)Unilateral Anhidrosis With Ipsilateral Basal Cell Carcinomas.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Skin Cancer Associated Genodermatoses: A Literature Review.
Acta dermato-venereologica[What's new in research?].
Annales de dermatologie et de venereologieBazex-Dupré-Christol syndrome: First report in an Indian family.
Indian journal of dermatology, venereology and leprologyBazex syndrome in a patient with head and neck malignancy.
JAAPA : official journal of the American Academy of Physician AssistantsBazex-Dupré-Christol syndrome: review of clinical and molecular aspects.
International journal of dermatologyIs it just a psoriasiform dermatitis?
Dermatology online journalAcrokeratosis paraneoplastica (Bazex syndrome).
Ear, nose, & throat journalParaneoplastic acrokeratosis (Bazex syndrome): unusual association with in situ follicular lymphoma and response to acitretin.
Cutis[Hands and feet lesions].
La Revue de medecine interneMutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Nature medicineAcrokeratosis paraneoplastica (Bazex syndrome) - a systematic review on risk factors, diagnosis, prognosis and management.
Journal of the European Academy of Dermatology and Venereology : JEADVAn unusual cause for a psoriasiform dermatosis.
Clinical and experimental dermatologyThe cutaneous manifestations of gastrointestinal malignancy.
Seminars in oncologyDiagnosis and Management of Hereditary Basal Cell Skin Cancer.
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancerAcrokeratosis paraneoplastica (Bazex syndrome) associated with metastatic cutaneous squamous cell carcinoma.
Internal medicine journalCase Report: Bazex Syndrome Associated With Pulmonary Adenocarcinoma.
MedicineAcitretin amelioration of Acrokeratosis Paraneoplastica (Bazex Syndrome) in cases of incurable squamous cell carcinoma of the hypopharynx.
Dermatology online journalPsoriasiform dermatitis and hepatocellular carcinoma: a new case of Bazex syndrome.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia[Bazex-Dupré-Christol syndrome: Case series].
Archivos argentinos de pediatriaBorderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
American journal of medical genetics. Part AAcute Onset of Acrokeratosis Paraneoplastica (Bazex Syndrome).
JAMA dermatology[Acrokeratosis paraneoplastica Bazex 6 years prior to diagnosis of gastric cancer].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- A 12-Year-Old Female With Facial Bumps, Body Pits, and Coiled Scalp Hair.
- Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome.
- A rare case of acrokeratosis paraneoplastica (Bazex syndrome) and a literature review.
- Whole genome sequencing revealing Xq26.1 intergenic duplications associated with Bazex-Dupré-Christol syndrome in a Chinese family.Journal of the European Academy of Dermatology and Venereology : JEADV· 2025· PMID 38713094mais citado
- Acrokeratosis paraneoplastica (Basex syndrome) with trachyonychia preceding the diagnosis of squamous cell carcinoma of the lung.
- Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
- Advanced basal cell carcinoma: What dermatologists need to know about diagnosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:113(Orphanet)
- OMIM OMIM:301845(OMIM)
- MONDO:0010535(MONDO)
- GARD:838(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q4875174(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.
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