A síndrome de Hennekam-Beemer é uma condição caracterizada pela combinação de manchas escuras e espalhadas pela pele (mastocitose cutânea), baixa estatura, cabeça menor que o normal (microcefalia), perda auditiva e traços físicos incomuns. Ela foi descrita em apenas dois casos, ambos em mulheres: uma com desenvolvimento mental normal, filha de pais que são parentes próximos, e a outra com atraso grave no desenvolvimento motor e mental, filha de pais que não são parentes. A forma de herança mais provável é a autossômica recessiva, o que significa que a condição só se manifesta se a pessoa herdar uma cópia alterada do gene de cada um dos pais.
Introdução
O que você precisa saber de cara
A síndrome de Hennekam-Beemer é uma condição caracterizada pela combinação de manchas escuras e espalhadas pela pele (mastocitose cutânea), baixa estatura, cabeça menor que o normal (microcefalia), perda auditiva e traços físicos incomuns. Ela foi descrita em apenas dois casos, ambos em mulheres: uma com desenvolvimento mental normal, filha de pais que são parentes próximos, e a outra com atraso grave no desenvolvimento motor e mental, filha de pais que não são parentes. A forma de herança mais provável é a autossômica recessiva, o que significa que a condição só se manifesta se a pessoa herdar uma cópia alterada do gene de cada um dos pais.
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
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 61 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 Hennekam-Beemer
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Modern rheumatology case reportsSézary syndrome arising from cutaneous epitheliotropic T-cell lymphoma, resembling human folliculotropic mycosis fungoides, in a dog.
Journal of comparative pathology[A Case Report of Cutaneous Scedosporium apiospermum Presenting with Cellulitis-like Cutaneous Findings and A Review of the Literature].
Mikrobiyoloji bulteniKounis syndrome type III triggered by stents in patients with coronary artery disease: A review of clinical cases.
World journal of cardiologyCutaneous paraneoplastic syndromes in cats: a comparative clinical review.
Journal of feline medicine and surgeryThe evolving role of TRPS1 in dermatopathology: insights from the past 4 years.
Journal of pathology and translational medicineDiagnosis and treatment of cutaneous adverse effects of targeted therapy, antibody-drug conjugates, and immunotherapy in cancer patients: a national consensus statement by the Spanish Society of Medical Oncology and the Spanish Academy of Dermatology and Venereology.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoClinical and laboratory markers to distinguish VEXAS from Schnitzler's syndrome: data from the AIDA network registries.
Frontiers in medicineImmune checkpoint inhibitor-related Stevens-Johnson syndrome and toxic epidermal necrolysis: a retrospective analysis of 21 cases.
Frontiers in immunologyThe Relationship Between Emotion Processing and Flexor Afferent Responses in Upper Limbs.
Sensors (Basel, Switzerland)Real-World Data on Severe Cutaneous Adverse Reactions to Drugs.
Pharmaceuticals (Basel, Switzerland)Insulin Resistance in Systemic Sclerosis: Decoding Its Association with Severe Clinical Phenotype.
Journal of clinical medicineHyperglycemia-A Driver of Cutaneous Severity in Dermatomyositis: A Narrative Review.
Journal of clinical medicineLong-Term Impact of Guselkumab on Systemic Inflammation Indices in Moderate-to-Severe Psoriasis.
Journal of clinical medicinePalmitoylethanolamide for Nickel Allergy: Plausible, Untested, and Worth Considering.
BiomedicinesEfficacy and Safety of HAIC Combined with PD-(L)1 Inhibitors and Bevacizumab Versus HAIC with PD-(L)1 Inhibitors and TKIs in Advanced Hepatocellular Carcinoma: A Retrospective Cohort Study.
CancersPathological diagnosis and therapeutic management of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma.
International cancer conference journalA Diagnostic Delay: Respiratory Muscle Weakness in Dermatomyositis Masquerading as Pneumonia.
CureusKlippel-trenaunay syndrome in a child with coexisting lymphangioma, vascular insufficiency, and multiple soft tissue swellings: a case report.
Oxford medical case reportsNecrotizing pneumonia due to blastomycosis: Diagnostic challenges and the emerging role of cell-free DNA testing.
IDCasesBilateral pheochromocytomas with locally advanced right adrenal tumor extending into the inferior vena cava in a suspected Von Hippel-Lindau syndrome: A case report.
Urology case reportsEpidemiological characteristics of severe skin adverse reactions caused by immune checkpoint inhibitors based on case reports.
International journal of clinical pharmacology and therapeuticsAllopurinol-induced drug reaction with eosinophilia and systemic symptoms syndrome in a patient with previous nephrectomy: a case report.
Journal of medical case reports[From a simple skin rash to kidney injury: A case of post-measles glomerulonephritis].
Nephrologie & therapeutiqueDiagnostic Implications of Dupilumab-Refractory Atopic Dermatitis: Risk of Underlying Cutaneous T-Cell Lymphoma and the Role of Skin Biopsy.
International journal of dermatologySevere cutaneous adverse drug reactions due to antituberculosis drugs and their management.
Northern clinics of IstanbulA novel effect of bevacizumab in reducing characteristic pigmentation in Peutz-Jeghers syndrome: a case report and literature review.
Frontiers in oncologyManaging Metastatic Cutaneous Squamous Cell Carcinoma in VEXAS Syndrome: A Therapeutic Challenge.
Clinical and experimental dermatologyComprehensive comparison of salivary gland and cutaneous adnexal tumors: analogous versus discrepant clinical, terminological, histological, and molecular features : Part II: Second series of related tumor entities and synoptic comparison of general aspects.
Virchows Archiv : an international journal of pathologyThe Birt-Hogg-Dubé syndrome gene folliculin (FLCN) operates as a negative regulator of human hair follicle growth ex vivo.
The Journal of investigative dermatologyCYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation.
International journal of dermatologyAssociações
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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.
- Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.
- Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.
- Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.
- RhoGEF Ect2 supports RhoA activity at cell-cell junctions through desmoplakin.
- Anterior cutaneous nerve entrapment syndrome (ACNES) disguised as recurrent abdominal pain: a diagnostic challenge with a simple solution.
- A practical clinical approach to the diagnosis and management of morphea (localized scleroderma).
- Body Under Attack: Disseminated Varicella-Zoster Virus Infection.
- Mogamulizumab-associated lymphadenopathy masquerading as lymphoma progression.
- Paraneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2135(Orphanet)
- OMIM OMIM:248910(OMIM)
- MONDO:0009569(MONDO)
- GARD:3409(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782070(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