Raras
Buscar doenças, sintomas, genes...
Síndrome Hennekam-Beemer
ORPHA:2135CID-10 · Q82.2OMIM 248910DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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

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
3
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q82.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

😀
Face
9 sintomas
🧬
Pele e cabelo
9 sintomas
🦴
Ossos e articulações
6 sintomas
🧠
Neurológico
5 sintomas
📏
Crescimento
2 sintomas
👁️
Olhos
2 sintomas

+ 18 sintomas em outras categorias

Características mais comuns

100%prev.
Mastocitose cutânea
Frequência: 3/3
100%prev.
Hipotonia
Muito frequente (99-80%)
100%prev.
Fissura palpebral ascendente
Muito frequente (99-80%)
100%prev.
Deficiência auditiva condutiva
Muito frequente (99-80%)
100%prev.
Micrognatia
Muito frequente (99-80%)
100%prev.
Microcefalia
Muito frequente (99-80%)
61sintomas
Muito frequente (29)
Frequente (11)
Ocasional (18)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 61 características clínicas mais associadas, ordenadas por frequência.

Mastocitose cutâneaCutaneous mastocytosis
Frequência: 3/3100%
HipotoniaHypotonia
Muito frequente (99-80%)100%
Fissura palpebral ascendenteUpslanted palpebral fissure
Muito frequente (99-80%)100%
Deficiência auditiva condutivaConductive hearing impairment
Muito frequente (99-80%)100%
MicrognatiaMicrognathia
Muito frequente (99-80%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026185 papers
Linha do tempo
2026Hoje · 2026
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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome Hennekam-Beemer

🗺️

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
0 papers (10 anos)
#1

Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.

European journal of gastroenterology &amp; hepatology2026 Mar 02

Este estudo retrospectivo indica que o uso de camrelizumab como terapia adjuvante pode melhorar o prognóstico de pacientes com câncer de fígado (HCC) de alto risco de recorrência após a cirurgia curativa, prolongando a sobrevida livre de recorrência e a sobrevida geral. Uma descoberta crucial é que a combinação com outros medicamentos (inibidores de tirosina quinase, TKIs) não oferece vantagens significativas sobre a monoterapia com camrelizumab, sugerindo que pode ser desnecessária para pacientes e médicos. Os eventos adversos foram gerenciáveis, sendo os mais comuns reações cutâneas específicas, síndrome mão-pé e hipertensão.

🇧🇷 traduzido
#2

Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

Clinical genetics2026 Mar 19

Este estudo sobre as RASopatias, um grupo de doenças genéticas com manifestações complexas como alterações craniofaciais, musculoesqueléticas e **cutâneas**, amplia o conhecimento sobre a diversidade de suas causas genéticas. A identificação de variantes genéticas novas, mesmo em genes raramente associados, sublinha a importância do diagnóstico preciso via sequenciamento genético de nova geração (NGS) e a necessidade de manejo clínico individualizado para cada paciente.

🇧🇷 traduzido
#3

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

BMJ case reports2026 Mar 13

O resumo fornecido refere-se à Síndrome de Sjögren-Larsson (SLS), não à síndrome de mastocitose cutânea-surdez-microtia. Com base no artigo sobre SLS: A Síndrome de Sjögren-Larsson (SLS) é uma doença genética rara caracterizada por ictiose congênita, problemas neurológicos progressivos (como atraso intelectual e espasticidade) e, como este artigo destaca, **graves complicações orais**. Para pacientes e médicos, é crucial reconhecer que a SLS pode causar cáries severas, desmineralização do esmalte e gengivite. O tratamento requer uma abordagem multidisciplinar, com **cuidados dentários especializados e integrados**, frequentemente realizados sob anestesia geral, para manejar eficazmente a doença.

🇧🇷 traduzido
#4

RhoGEF Ect2 supports RhoA activity at cell-cell junctions through desmoplakin.

Life science alliance2026 Jun

O artigo trata de dois tópicos distintos: **1. Sobre a função da Desmoplaquina (DP) e a síndrome de Carvajal:** Este estudo revela que a desmoplaquina (DP), essencial para a adesão celular, direciona a proteína Ect2 para as junções, onde ela ativa RhoA, crucial para a integridade dos tecidos. Em pacientes com síndrome de Carvajal, uma DP mutada não consegue ligar Ect2, levando a graves defeitos cardíacos e cutâneos. Essa descoberta oferece a médicos e pesquisadores uma nova compreensão molecular das doenças cardiocutâneas e potenciais alvos para futuras terapias. **2. Sobre a displasia hiperostótica de Lenz-Majewski (LMHD) relacionada ao PTDSS1:** A LMHD é uma condição genética rara, caracterizada por cutis laxa, anomalias craniofaciais e esqueléticas (osteosclerose), e atrasos no desenvolvimento. O diagnóstico é estabelecido por teste genético (variante PTDSS1) e o tratamento é sintomático e multidisciplinar, focando em ortopedia, neurologia, desenvolvimento e outras especialidades conforme necessário. Médicos e pacientes devem estar cientes dos múltiplos sintomas e da importância do acompanhamento regular e do aconselhamento genético, dado o risco de recorrência por mosaicismo gonadal, apesar de a maioria dos casos ser de novo.

🇧🇷 traduzido
#5

Anterior cutaneous nerve entrapment syndrome (ACNES) disguised as recurrent abdominal pain: a diagnostic challenge with a simple solution.

BMJ case reports2026 Mar 05

A Síndrome de Encarceramento do Nervo Cutâneo Anterior (ACNES) é uma causa subdiagnosticada de dor abdominal crônica que frequentemente passa despercebida devido à dependência excessiva de exames de imagem e laboratório. O artigo destaca que um exame físico cuidadoso, focando em sinais como o de Carnett, é crucial para o diagnóstico, levando a um alívio imediato dos sintomas com uma injeção simples. Médicos devem considerar ACNES em pacientes com dor abdominal persistente e exames normais, pois um diagnóstico precoce pode reduzir o sofrimento, evitar testes desnecessários e melhorar significativamente a qualidade de vida do paciente.

🇧🇷 traduzido

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Success rates of a surgical neurectomy for lateral cutaneous nerve entrapment syndrome (LACNES).

Scandinavian journal of pain
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Persistent facial flushing as a cutaneous manifestation of carcinoid syndrome.

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Stevens-Johnson syndrome as the presenting manifestation of human immunodeficiency virus and syphilis coinfection.

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Cross face nerve grafting for reinnervation of nasal and tongue mucosa following trigeminal nerve injury.

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Diffuse Dermal Angiomatosis of the Breast Presenting as Diffuse Erythema Mimicking Inflammatory Breast Carcinoma in a Healthy Pregnant Patient.

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Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant.

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Acquired immune deficiency syndrome-related intravascular large B-cell lymphoma primarily arising from lymph nodes: a case report.

Frontiers in oncology
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Twin Presentation of Cutaneous Neonatal Lupus Associated With Maternal Anti-U1RNP Antibodies: A Case Report.

Cureus
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Cureus
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Toxic Epidermal Necrolysis in Pregnancy: A Case Report.

Cureus
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Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

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Melanoma: a genetics guide for surgeons.

Melanoma research
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Frey's syndrome in an infant misdiagnosed as food allergy.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
2026

Pyogenic flexor tenosynovitis complicated by necrotizing soft tissue infection in postpartum: A case report.

Annales de chirurgie plastique et esthetique
2026

A case of toxic epidermal necrolysis associated with vonoprazan, a potassium-competitive acid blocker.

JAAD case reports
2026

Postpartum-Onset Dermatomyositis Presenting With Malignant Pleural Effusion: A Case Report.

Cureus
2026

Inducible Costimulator and Its Ligand Promote Proliferation and Migration of Tumor Cells in Cutaneous T-Cell Lymphoma.

International journal of molecular sciences
2026

Brimonidine Beyond a Single Specialty: Pharmacological Profile, Dermatologic Applications, and Advances in Drug Delivery Systems.

International journal of molecular sciences
2026

Pathogenic and Clinical Relevance of Serum IL-17A and TNF-α in Systemic Lupus Erythematosus.

International journal of molecular sciences
2026

Cutaneous Clues in Kawasaki Disease: Clinical Implications and Differential Diagnosis with Multisystem Inflammatory Syndrome in Children.

Journal of clinical medicine
2026

Laboratory Evaluation of Peripheral Blood Involvement in Mycosis Fungoides and Sézary Syndrome: Evolution of Flow Cytometry and Morphology Quantification and Interpretation.

Cancers
2026

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

Complete bilateral second branchial cleft fistula in an adolescent: a rare case report with literature review.

Annals of medicine and surgery (2012)
2026

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Molecular syndromology
2026

Erythema multiforme-like lesions triggered by sun exposure: A case of Rowell syndrome as the initial presentation of systemic lupus erythematosus.

JAAD case reports
2026

Phase 1 open-label study of ASP9801, an oncolytic virus, in patients with advanced or metastatic solid tumors.

Journal for immunotherapy of cancer
2026

High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome.

Journal of neuro-oncology
2026

Hives in autonomic disorders: a cutaneous marker of a distinct symptom phenotype.

Annals of medicine
2026

STAT3-Mutated Hyper-IgE Syndrome With Retroperitoneal Abscess in Adolescence.

Clinical case reports
2026

Double Jeopardy: Lamotrigine-Induced Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Complicated by Valproate Hepatotoxicity.

Cureus
2026

Racial Disparities in Severe Cutaneous Adverse Reactions: A Report of Two Cases on Preventable Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Prescription Errors Through Medication Stewardship.

Cureus
2025

Efficacy and tolerability of mogamulizumab in mycosis fungoides and Sézary Syndrome: a monocentric retrospective study.

Frontiers in oncology
2026

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

OTO open
2026

From Aortitis to Sweet's: The Immune Spectrum of G-CSF Adverse Events.

Seminars in arthritis and rheumatism
2026

Unilateral accessory tragi in a cat.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2025

Occurrence of eruptive cutaneous capillary haemangiomas in a teenager with hyper IgM syndrome.

Indian journal of dermatology, venereology and leprology
2026

Resminostat for maintenance treatment in patients with advanced-stage mycosis fungoides or Sézary syndrome: a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.

The Lancet. Haematology
2026

Beyond Sweet Syndrome: Untangling the Threads of Histiocytoid Sweet Syndrome and Cutaneous Myeloid Neoplasia.

Surgical pathology clinics
2026

Protocol for a mixed-methods modified Delphi study for the development of a core domain set to assess the health-related quality of life of patients with mycosis fungoides and Sézary syndrome in clinical trials.

BMJ open
2026

Clinical and Molecular Perspectives on Epidermodysplasia Verruciformis.

International journal of dermatology
2026

A historical review of mycosis fungoides: from Alibert to mogamulizumab.

Skin health and disease
2026

Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in SUFU.

Dermatology reports
2026

Children with suspected anterior cutaneous nerve entrapment syndrome (ACNES), it's not all the abdominal wall.

BMJ paediatrics open
2026

Development of a non-genetic risk prediction model for allopurinol-induced severe cutaneous adverse drug reactions: a multicenter retrospective observational study.

Clinical rheumatology
2026

Relapse of minimal change nephrotic syndrome after initiation of sulfamethoxazole-trimethoprim combination therapy: a case report.

CEN case reports
2026

Racial Disparities in United States Clinical Trial Enrollment for Mycosis Fungoides and Sézary Syndrome.

Journal of drugs in dermatology : JDD
2025

Surgical management strategies and clinical outcomes of cutaneous skeletal hypophosphatemia syndrome: a case series.

Frontiers in pediatrics
2026

Sweet's Syndrome: A Case of Fever and Painful Erythematous Nodules Following a Viral-Like Illness.

Cureus
2026

Atypical Presentation of Morphoea in an Elderly Male: Diagnostic Challenges in the Absence of Autoantibodies and Malignancy.

Cureus
2026

Juvenile systemic sclerosis.

Best practice &amp; research. Clinical rheumatology
2026

From Needle to Necrosis: A Case Report on Nicolau Syndrome.

Cureus
2026

Single cell analysis of developing Merkel cells reveals the emergence of non-coding RNA biotypes as a hallmark of terminal differentiation.

Cell death and differentiation
2025

Oligometastatic Breast Cancer With Cutaneous Involvement and Paraneoplastic Hypercalcemia in a Young Woman.

Cureus
2026

Persistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.

Cureus
2026

Multicentric Castleman disease (MCD) presenting with retiform purpura: A rare dermatologic manifestation of a systemic disease.

JAAD case reports
2025

Case Report: Murine typhus complicated by symmetrical peripheral gangrene: first report and diagnostic insights from metagenomic next-generation sequencing.

Frontiers in immunology
2025

Case Report: A multidisciplinary, protocol-driven pathway from recurrent pregnancy loss to live birth in an anti-Ro/SSA-positive primary Sjögren's syndrome pregnancy with literature review.

Frontiers in immunology
2026

Human keratinocytes exhibit limited potential for SARS-CoV-2 infection despite ACE2 and mature cathepsin L expression.

JID innovations : skin science from molecules to population health
2026

Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part I - Mechanisms of Toxicity.

Journal of the American Academy of Dermatology
2026

Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part II - Approach to Management and Treatment.

Journal of the American Academy of Dermatology
2026

Facial tumor mapping distinguishes Birt-Hogg-Dubé syndrome from CYLD cutaneous syndrome.

Journal of the American Academy of Dermatology
2026

Paraneoplastic dermatomyositis with atypical features associated with a solid pseudopapillary pancreatic neoplasm.

Clinical rheumatology
2026

Navigating clinical overlap: A case of polyarteritis nodosa in the setting of antiphospholipid syndrome.

Modern rheumatology case reports
2026

Sézary syndrome arising from cutaneous epitheliotropic T-cell lymphoma, resembling human folliculotropic mycosis fungoides, in a dog.

Journal of comparative pathology
2026

[A Case Report of Cutaneous Scedosporium apiospermum Presenting with Cellulitis-like Cutaneous Findings and A Review of the Literature].

Mikrobiyoloji bulteni
2026

Kounis syndrome type III triggered by stents in patients with coronary artery disease: A review of clinical cases.

World journal of cardiology
2026

Cutaneous paraneoplastic syndromes in cats: a comparative clinical review.

Journal of feline medicine and surgery
2026

The evolving role of TRPS1 in dermatopathology: insights from the past 4 years.

Journal of pathology and translational medicine
2026

Diagnosis 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 &amp; translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2025

Clinical and laboratory markers to distinguish VEXAS from Schnitzler's syndrome: data from the AIDA network registries.

Frontiers in medicine
2025

Immune checkpoint inhibitor-related Stevens-Johnson syndrome and toxic epidermal necrolysis: a retrospective analysis of 21 cases.

Frontiers in immunology
2026

The Relationship Between Emotion Processing and Flexor Afferent Responses in Upper Limbs.

Sensors (Basel, Switzerland)
2025

Real-World Data on Severe Cutaneous Adverse Reactions to Drugs.

Pharmaceuticals (Basel, Switzerland)
2026

Insulin Resistance in Systemic Sclerosis: Decoding Its Association with Severe Clinical Phenotype.

Journal of clinical medicine
2026

Hyperglycemia-A Driver of Cutaneous Severity in Dermatomyositis: A Narrative Review.

Journal of clinical medicine
2026

Long-Term Impact of Guselkumab on Systemic Inflammation Indices in Moderate-to-Severe Psoriasis.

Journal of clinical medicine
2026

Palmitoylethanolamide for Nickel Allergy: Plausible, Untested, and Worth Considering.

Biomedicines
2026

Efficacy 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.

Cancers
2026

Pathological diagnosis and therapeutic management of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma.

International cancer conference journal
2025

A Diagnostic Delay: Respiratory Muscle Weakness in Dermatomyositis Masquerading as Pneumonia.

Cureus
2026

Klippel-trenaunay syndrome in a child with coexisting lymphangioma, vascular insufficiency, and multiple soft tissue swellings: a case report.

Oxford medical case reports
2026

Necrotizing pneumonia due to blastomycosis: Diagnostic challenges and the emerging role of cell-free DNA testing.

IDCases
2026

Bilateral 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 reports
2026

Epidemiological characteristics of severe skin adverse reactions caused by immune checkpoint inhibitors based on case reports.

International journal of clinical pharmacology and therapeutics
2026

Allopurinol-induced drug reaction with eosinophilia and systemic symptoms syndrome in a patient with previous nephrectomy: a case report.

Journal of medical case reports
2026

[From a simple skin rash to kidney injury: A case of post-measles glomerulonephritis].

Nephrologie &amp; therapeutique
2026

Diagnostic Implications of Dupilumab-Refractory Atopic Dermatitis: Risk of Underlying Cutaneous T-Cell Lymphoma and the Role of Skin Biopsy.

International journal of dermatology
2025

Severe cutaneous adverse drug reactions due to antituberculosis drugs and their management.

Northern clinics of Istanbul
2025

A novel effect of bevacizumab in reducing characteristic pigmentation in Peutz-Jeghers syndrome: a case report and literature review.

Frontiers in oncology
2026

Managing Metastatic Cutaneous Squamous Cell Carcinoma in VEXAS Syndrome: A Therapeutic Challenge.

Clinical and experimental dermatology
2026

Comprehensive 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 pathology
2026

The Birt-Hogg-Dubé syndrome gene folliculin (FLCN) operates as a negative regulator of human hair follicle growth ex vivo.

The Journal of investigative dermatology
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

Associações

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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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.
    European journal of gastroenterology &amp; hepatology· 2026· PMID 41870909mais citado
  2. Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.
    Clinical genetics· 2026· PMID 41854160mais citado
  3. Multisystem manifestations of Sj&#xf6;gren-Larsson syndrome in early childhood and its dental implications.
    BMJ case reports· 2026· PMID 41825905mais citado
  4. RhoGEF Ect2 supports RhoA activity at cell-cell junctions through desmoplakin.
    Life science alliance· 2026· PMID 41819613mais citado
  5. Anterior cutaneous nerve entrapment syndrome (ACNES) disguised as recurrent abdominal pain: a diagnostic challenge with a simple solution.
    BMJ case reports· 2026· PMID 41786443mais citado
  6. A practical clinical approach to the diagnosis and management of morphea (localized scleroderma).
    Best Pract Res Clin Rheumatol· 2026· PMID 41864763recente
  7. Body Under Attack: Disseminated Varicella-Zoster Virus Infection.
    Cureus· 2026· PMID 41859600recente
  8. Mogamulizumab-associated lymphadenopathy masquerading as lymphoma progression.
    JAAD Case Rep· 2026· PMID 41859422recente
  9. Paraneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.
    Am J Ophthalmol Case Rep· 2026· PMID 41852360recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2135(Orphanet)
  2. OMIM OMIM:248910(OMIM)
  3. MONDO:0009569(MONDO)
  4. GARD:3409(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Compêndio · Raras BR

Síndrome Hennekam-Beemer

ORPHA:2135 · MONDO:0009569
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal recessive
CID-10
Q82.2 · Mastocitose
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1855345
Wikidata
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