Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 61
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
País de afiliação
Intervalo de ano de publicação
2.
Nature ; 558(7711): 540-546, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29899452

RESUMO

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. On the basis of these results, we used BYL719 to treat nineteen patients with PROS. The drug improved the disease symptoms in all patients. Previously intractable vascular tumours became smaller, congestive heart failure was improved, hemihypertrophy was reduced, and scoliosis was attenuated. The treatment was not associated with any substantial side effects. In conclusion, this study provides the first direct evidence supporting PIK3CA inhibition as a promising therapeutic strategy in patients with PROS.


Assuntos
Classe I de Fosfatidilinositol 3-Quinases/antagonistas & inibidores , Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Lipoma/tratamento farmacológico , Lipoma/enzimologia , Terapia de Alvo Molecular , Anormalidades Musculoesqueléticas/tratamento farmacológico , Anormalidades Musculoesqueléticas/enzimologia , Nevo/tratamento farmacológico , Nevo/enzimologia , Tiazóis/uso terapêutico , Malformações Vasculares/tratamento farmacológico , Malformações Vasculares/enzimologia , Adulto , Animais , Criança , Modelos Animais de Doenças , Feminino , Células HeLa , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/tratamento farmacológico , Humanos , Masculino , Camundongos , Fenótipo , Escoliose/complicações , Escoliose/tratamento farmacológico , Sirolimo/uso terapêutico , Síndrome , Neoplasias Vasculares/complicações , Neoplasias Vasculares/tratamento farmacológico
3.
Emerg Infect Dis ; 29(3): 640-641, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36823687

RESUMO

Helicobacter cinaedi bacteremia caused recurring multifocal cellulitis in a patient in France who had chronic lymphocytic leukemia treated with ibrutinib. Diagnosis required extended blood culture incubation and sequencing of the entire 16S ribosomal RNA gene from single bacterial colonies. Clinicians should consider H. cinaedi infection in cases of recurrent cellulitis.


Assuntos
Bacteriemia , Infecções por Helicobacter , Helicobacter , Humanos , Celulite (Flegmão)/diagnóstico , Celulite (Flegmão)/microbiologia , Helicobacter/genética , Bacteriemia/microbiologia , Infecções por Helicobacter/diagnóstico
4.
Dermatology ; 239(1): 132-139, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36349768

RESUMO

BACKGROUND: Our objective was to describe the clinical, histological characteristics, and disease outcome of a cohort of mycosis fungoides (MF) diagnosed during childhood including disease status at adulthood. METHODS: This is a retrospective multicentre survey of patients aged under 18 years at diagnosis with histologically confirmed MF. Patients' clinical and histological characteristics, treatments, and disease outcome (for patients followed for more than 12 months) were analysed. RESULTS: Forty-six patients were included (median age at diagnosis: 11 years; M:F sex ratio: 3:1) with 39 (85%) followed for at least 12 months. Thirty-nine patients (85%) had stage I MF. Hypopigmented patches were observed in 48% and folliculotropism in 43% patients. Immunophenotype of the skin infiltrate was predominantly CD8+ in 17% of patients. Initial management included a wait-and-see strategy in 6/39 (15%), skin-directed treatment in 27 (69%), and systemic treatment in 6 (15%) patients, respectively, with partial or complete clinical response (PR or CR) observed in 28 patients (72%). 14/39 patients (36%) relapsed after initial response. After a median follow-up period of 54 months, disease status at last news was PR or CR in 31/39 (79%), stable disease in 6 (15%), and progression in 2 (5%) patients. Histological transformation was observed in 3/39 (8%). Of the 15 patients followed until adulthood, 13 (87%) had persistent MF. DISCUSSION: This survey confirms the high frequency of hypopigmented and folliculotropic lesions and of CD8+ immunophenotype compared to adult MF patients. The long-term course is usually indolent but transformation may occur sometimes long after disease onset and the disease may persist during adulthood.


Assuntos
Hipopigmentação , Micose Fungoide , Neoplasias Cutâneas , Adulto , Humanos , Criança , Adolescente , Idoso , Neoplasias Cutâneas/diagnóstico , Micose Fungoide/diagnóstico , Estudos Retrospectivos , Hipopigmentação/tratamento farmacológico , Hipopigmentação/patologia , Administração Cutânea
5.
Acta Derm Venereol ; 103: adv00893, 2023 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-36939537

RESUMO

Intramuscular capillary-type haemangiomas (ICTH) are rare vascular anomalies that can easily be misdiagnosed as other entities. A systematic review was performed of all cases of ICTH in the literature since its first description in 1972. An adjudication committee reviewed cases to include only ICTHs. Among 1,143 reports screened, 43 were included, involving 75 patients. The most frequent differential diagnosis was intramuscular venous malformations. The mean age of patients at diagnosis was 21.2 years. ICTH was mainly described as a gradually increasing mass (81.8%), painless (73.9%), that could occur anywhere in the body but most frequently on the head and neck (44.0%). Magnetic resonance imaging (MRI) was mainly used for diagnosis (69.1%) and displayed specific features. The most frequent treatment was complete surgical removal (73.9%), which could be preceded by embolization, and led to complete remission without recurrence in all but 1 case.


Assuntos
Hemangioma Capilar , Hemangioma , Malformações Vasculares , Humanos , Adulto Jovem , Adulto , Hemangioma/diagnóstico por imagem , Hemangioma/cirurgia , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/terapia , Pescoço/irrigação sanguínea , Pescoço/patologia , Hemangioma Capilar/diagnóstico por imagem , Hemangioma Capilar/cirurgia , Cabeça/patologia
6.
Eur J Pediatr ; 182(9): 4133-4141, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37432503

RESUMO

The purpose of the study is to highlight clinical signs that are either suggestive of or against the diagnosis of AHEI to improve diagnosis and management. The medical records of children under 3 years old diagnosed with AHEI were retrospectively reviewed. Clinical data and photographs were reviewed by three independent experts, and the cases were classified as probable, doubtful, or unclear AHEI. Of the 69 cases of children diagnosed with AHEI included in 22 centers, 40 were classified as probable, 22 as doubtful, and 7 as unclear. The median age of patients with probable AHEI was 11 months [IQR 9-15], and they were in overall good condition (n = 33/40, 82.5%). The morphology of the purpura was targetoid in 75% of cases (n = 30/40) and ecchymotic in 70% of cases (n = 28/40) and affected mostly the legs (n = 39/40, 97%), the arms (n = 34/40, 85%), and the face (n = 33/40, 82.5%). Edema was observed in 95% of cases and affected mostly the hands (n = 36/38, 95%) and feet (n = 28/38, 74%). Pruritus was absent in all patients with probable AHEI and described for 6/21 with doubtful AHEI (29%). AHEI was the original diagnosis in only 24 patients (n = 24/40, 60%). The major differential diagnoses were purpura fulminans and urticaria multiforme.  Conclusion: AHEI, which the diagnosis is made on clinical findings, is often misdiagnosed. Purpuric lesions localized on the face/ears, arms/forearms, and thighs/legs with edema of the hands without pruritus in a young child with a good overall condition are highly suggestive of AHEI. What is Known: •Acute hemorrhagic edema of infancy (AHEI) is a cutaneous leukocytoclastic vasculitis affecting children under 3 years old. •Appropriate diagnosis is important to distinguish this benign disease from more serious diseases to avoid investigations and treatments, iatrogenic harm and unnecessary follow-up. What is New: •AHEI is an uncommon disorder often misdiagnosed by pediatricians and dermatologists. •Purpuric lesions localized on the face/ears, arms/forearms, and thighs/legs with edema of the hands without pruritus in an infant with a good overall condition are highly suggestive of AHEI.

7.
J Eur Acad Dermatol Venereol ; 37(7): 1435-1442, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36972023

RESUMO

BACKGROUND: Low-flow malformations (LFMs) are rare diseases with a significant impact on health-related quality of life (HRQoL), especially in children. No disease-specific questionnaire is available for children with LFMs. OBJECTIVE: To develop and validate a specific HRQoL questionnaire for children from 11 to 15 years old suffering from LFMs. METHODS: A preliminary questionnaire based on a verbatim from focus groups was created and sent to children from 11 to 15 years old suffering from LFMs, together with a dermatology-specific and a generic HRQoL questionnaire (cDLQI and EQ-5D-Y). RESULTS: A total of 75 from 201 included children responded to the questionnaires. The final version of the questionnaire (cLFM-QoL) included 15 questions and was not divisible into subscales. It demonstrated excellent internal consistency (cronbach 0.89), convergent validity and readability (SMOG 6.04). cLFM-QoL mean score (± SD) was 12.9/45 (8.03) for all grades of severity, for mild 8.22/45 (7.5), moderate 14.03/45 (8.35), severe 12.35/45 (6.59) or very severe patients 20.7/45 (3.39) (p 0.006). CONCLUSION: cLFM-QoL is a validated short and easy to use specific questionnaire with excellent psychometric capacities. It will be suitable for any children aged 11-15 with LFMs, in daily practice or clinical trials.


Assuntos
Qualidade de Vida , Humanos , Criança , Adolescente , Inquéritos e Questionários , Psicometria , Grupos Focais , Reprodutibilidade dos Testes
8.
Curr Opin Oncol ; 33(2): 95-100, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33481427

RESUMO

PURPOSE OF REVIEW: Superficial vascular anomalies are a heterogeneous group of malformative and tumoral lesions, developed from various types of abnormal lymphatic and/or blood vessels. They are mostly benign but their clinical evolution can lead to dramatic cosmetic concern, functional impairment and even life-threatening conditions. Until recently, treatments relied on invasive procedures such as embotherapy/sclerotherapy and/or surgery. Recent molecular findings pave the way of new medical therapies. RECENT FINDINGS: Two main signaling pathways PI3K-AKT-mTOR and RAS-MAPK-ERK are now identified to encounter for the causative pathogenic genetic variants of most vascular anomalies. Involved genes are also responsible for several common neoplasms for which targeted therapies are already available or under development. Repurposing treatment strategy is considered for vascular anomalies treatment with promising results. SUMMARY: The mTOR inhibitor sirolimus is the most used targeted therapy so far but new molecules are tested currently.


Assuntos
Proteínas Quinases Ativadas por Mitógeno/antagonistas & inibidores , Fosfatidilinositol 3-Quinases/metabolismo , Inibidores de Proteínas Quinases/uso terapêutico , Animais , Humanos , Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Proteínas Quinases Ativadas por Mitógeno/metabolismo , Terapia de Alvo Molecular , Proteínas Proto-Oncogênicas c-akt/metabolismo , Sirolimo/uso terapêutico , Serina-Treonina Quinases TOR/antagonistas & inibidores , Serina-Treonina Quinases TOR/metabolismo , Neoplasias Vasculares/congênito , Neoplasias Vasculares/tratamento farmacológico , Neoplasias Vasculares/metabolismo , Proteínas ras/metabolismo
9.
Clin Genet ; 99(5): 650-661, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33415748

RESUMO

Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Based on a French collaboration, we collected clinical features of 33 patients (21 females, 12 males, median age of 9.9 years) with MCAP carrying mosaic PIK3CA pathogenic variants. MRI images were reviewed for 21 patients. The main clinical features reported were macrocephaly at birth (20/31), postnatal macrocephaly (31/32), body/facial asymmetry (21/33), cutaneous capillary malformations (naevus flammeus 28/33, cutis marmorata 17/33). Intellectual disability was present in 15 patients. Among the MRI images reviewed, the neuroimaging findings were megalencephaly (20/21), thickening of corpus callosum (16/21), Chiari malformation (12/21), ventriculomegaly/hydrocephaly (10/21), cerebral asymmetry (6/21) and polymicrogyria (2/21). This study confirms the main known clinical features that defines MCAP syndrome. Taking into account the phenotypic heterogeneity in MCAP patients, in the context of emerging clinical trials, we suggest that patients should be evaluated based on the main neurocognitive expression on each patient.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/fisiopatologia , Ensaios Clínicos como Assunto , Megalencefalia/diagnóstico por imagem , Megalencefalia/fisiopatologia , Neuroimagem , Dermatopatias Vasculares/diagnóstico por imagem , Dermatopatias Vasculares/fisiopatologia , Telangiectasia/congênito , Anormalidades Múltiplas/tratamento farmacológico , Adolescente , Adulto , Criança , Pré-Escolar , Classe I de Fosfatidilinositol 3-Quinases/genética , Estudos de Coortes , Feminino , Previsões , Humanos , Imageamento por Ressonância Magnética , Masculino , Megalencefalia/tratamento farmacológico , Dermatopatias Vasculares/tratamento farmacológico , Telangiectasia/diagnóstico por imagem , Telangiectasia/tratamento farmacológico , Telangiectasia/fisiopatologia , Adulto Jovem
10.
Pediatr Dermatol ; 38(4): 864-867, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34152036

RESUMO

We report 20 newborns who developed, at a median age of 7 days, large abdominal patches of radially arranged purplish telangiectasia in a bilateral and symmetrical pattern in relation to the midline, creating a "butterfly wing" pattern. Clinical examination was normal in 13 newborns, six newborns had abdominal distention, and one newborn had poor weight gain due to inadequate breastfeeding. Most lesions spontaneously resolved within 3 months and did not reoccur for 19 newborns. Transient abdominal telangiectasia of the newborn (TATN) appears to be a distinctive entity that has not been previously described.


Assuntos
Abdome , Telangiectasia , Humanos , Recém-Nascido , Telangiectasia/diagnóstico
11.
Histopathology ; 77(2): 275-283, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32281140

RESUMO

AIMS: Congenital haemangiomas (CHs) can be subdivided into different subtypes [rapidly involuting CHs (RICHs), non-involuting CHs (NICHs), and partially involuting CHs (PICHs)]. During the first few days of life, RICHs may be associated with transient but sometimes marked thrombocytopenia. We sought to assess the histological aspects and clinicopathological correlations of the three subtypes. METHODS AND RESULTS: We assessed the histopathological features of 10 RICHs, 25 NICHs, and 20 PICHs, described the patients' long-term clinical outcomes, and assessed clinicopathological correlations. All CHs were located in the dermis and hypodermis, and comprised both capillary lobules (with three distinct histopathological patterns) and extralobular large vessels. Most of the extralobular vessels were abnormal veins and abnormal lymphatic vessels. We did not observe significant correlations between the CH subtype, the histopathological pattern, and the time of the histopathological assessment. Interestingly, unexpected intralobular expression of podoplanin was found in neonatal biopsies of five RICHs and PICHs. Four of these five patients had concomitant thrombocytopenia. The podoplanin staining intensity decreased over time as the thrombocytopenia resolved and the tumour shrank. CONCLUSION: The histopathological features were similar in all three subtypes of CH, and were related to the time since disease onset; we consider that RICH, PICH and NICH form a single entity and differ only in their involuting potential. Along with the transient expression of intralobular podoplanin observed in some specimens from the newborn, the lobular architecture might lead to misdiagnosis of tufted haemangioma or kaposiform haemangioendothelioma.


Assuntos
Hemangioma/patologia , Glicoproteínas de Membrana/metabolismo , Trombocitopenia/patologia , Adolescente , Biópsia , Criança , Pré-Escolar , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/patologia , Diagnóstico Diferencial , Feminino , Seguimentos , Hemangioendotelioma/diagnóstico , Hemangioendotelioma/patologia , Hemangioma/diagnóstico , Histocitoquímica , Humanos , Imuno-Histoquímica , Lactente , Recém-Nascido , Síndrome de Kasabach-Merritt/diagnóstico , Síndrome de Kasabach-Merritt/patologia , Vasos Linfáticos/patologia , Masculino , Neoplasias de Tecido Vascular/diagnóstico , Neoplasias de Tecido Vascular/patologia , Sarcoma de Kaposi/diagnóstico , Sarcoma de Kaposi/patologia
12.
Histopathology ; 76(4): 540-549, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31630434

RESUMO

AIM: Angiomatosis of soft tissue (AST) is a rare, high-flow, intramuscular vascular anomaly. In the context of PTEN hamartoma tumour syndrome (PHTS), this AST is referred to as PTEN hamartoma of soft tissue. Given that AST is observed in patients with no history of PHTS, we hypothesised that non-syndromic AST arises as a consequence of a somatic mutation. METHODS AND RESULTS: Thirteen patients with histologically confirmed AST were retrospectively studied. Details of the patients' personal and family medical histories and symptoms were retrieved from their medical records. The histological analyses were reviewed and a tissue sample was used for genetic testing. Somatic mutations in the PIK3CA gene (p.Glu542Lys; p.Glu545Lys; p.His1047Arg) were identified in the tissue samples from seven patients, all of whom had unremarkable medical histories and had presented with a single lesion located in the lower limb. Five pathogenic variations in the PTEN gene (mutations: p.Lys263Arg; c.1026+2T>A; p.Ala126Thr; p.Leu108Arg; deletion, log ratio -0.55) were identified in the lesions of four patients; two of the latter had multifocal lesions. All four patients displayed macrocephaly, three boys presented with penile freckles, but none had a family history of PHTS. There were no histological differences between the PIK3CA and PTEN groups. CONCLUSIONS: AST can be related to either PTEN or PIK3CA mutations and may be multifocal in PHTS. AST appears to be a manifestation of PHTS that occurs in early childhood. The patient's medical history and clinical presentation should prompt the physician to perform specific genetic testing.


Assuntos
Angiomatose/genética , Angiomatose/patologia , Classe I de Fosfatidilinositol 3-Quinases/genética , Adolescente , Braço , Criança , Pré-Escolar , Feminino , Síndrome do Hamartoma Múltiplo/genética , Humanos , Lactente , Perna (Membro) , Masculino , Mutação , PTEN Fosfo-Hidrolase/genética , Estudos Retrospectivos
13.
Pediatr Allergy Immunol ; 31(3): 297-302, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31725177

RESUMO

BACKGROUND: Episodic angioedema with eosinophilia (EAE, Gleich syndrome) is a rare disease, consisting of recurrent angioedema with hypereosinophilia and frequent increased serum immunoglobulin M levels. Less than 100 patients have been reported, mainly adults, sometimes with underlying lymphocytic variant of hypereosinophilic syndrome (HESL ). The aim of this study was to identify and describe pediatric cases. METHODS: We performed a retrospective study of all pediatric cases of EAE referred within the French National Referral Center for Hypereosinophilic Syndrome (CEREO). Next, the PRISMA guidelines were applied in order to perform a systematic review (data sources: PubMed, Web of Science). RESULTS: Among the two reported and 15 previously published cases of EAE occurring in children, the main clinical findings mimicked those of adults, including recurrent angioedema, hives, and weight gain. The median time between the first angioedema flare and the diagnosis of EAE was 5 years in published cases. Hypereosinophilia was constant, usually worsening with each attack, but seldom disappeared between flares. Total IgM serum levels were elevated in 16 patients. Four children had evidence of abnormal CD3- CD4+ T cells. First-line therapy relied on oral corticosteroids in all patients, and further lines (used in five patients) included interferon-α, methotrexate, and cyclosporin. Two children developed eosinophilic myocarditis during follow-up. CONCLUSION: Pediatricians should be aware that EAE is a diagnosis to consider in children. T-cell immunophenotyping is warranted in this setting. Prognosis seems fair, yet eosinophil-related organ damage may occur in patients with persistent eosinophilia.


Assuntos
Angioedema/complicações , Eosinofilia/complicações , Adolescente , Corticosteroides/uso terapêutico , Angioedema/diagnóstico , Angioedema/tratamento farmacológico , Criança , Pré-Escolar , Eosinofilia/diagnóstico , Eosinofilia/tratamento farmacológico , Eosinófilos/imunologia , Feminino , Humanos , Síndrome Hipereosinofílica/complicações , Imunoglobulina M/sangue , Imunofenotipagem , Masculino , Miocardite/complicações , Recidiva , Estudos Retrospectivos , Linfócitos T/imunologia , Resultado do Tratamento , Urticária/complicações
14.
Dev Med Child Neurol ; 62(2): 227-233, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31050360

RESUMO

AIM: We aimed to evaluate the contribution of early magnetic resonance imaging (MRI) for the presymptomatic diagnosis of Sturge-Weber syndrome (SWS) in infants with a facial port-wine birthmark (PWB). METHOD: Asymptomatic infants with a facial PWB who performed a first MRI scan before 3 months and a second MRI scan after 9 months were included in this study. Leptomeningeal enhancement on T1-weighted imaging and four indirect signs of leptomeningeal angioma (choroid plexus enlargement, cerebral atrophy, signal inversion of the white matter with T2 hyposignal, and T1 hypersignal) were screened on the first MRI scan and correlated with clinical and/or radiological diagnosis of SWS. RESULTS: Thirteen of 30 included patients had SWS with leptomeningeal angioma. Eleven had a leptomeningeal enhancement on the first MRI scan and 10 had associated indirect signs. The presence of a direct or at least one indirect sign of leptomeningeal angioma on the first MRI scan confirmed the diagnosis of SWS with a sensitivity of 100 per cent (95% confidence interval 75-100%) and a specificity of 94 per cent (71-100%). INTERPRETATION: Early diagnosis of SWS is possible on contrast-enhanced MRI performed in asymptomatic infants with a facial PWB before the age of 3 months. This early detection would help to select patients who may benefit from early neuroprotective intervention. WHAT THIS PAPER ADDS: Specific magnetic resonance imaging markers provide early diagnosis of leptomeningeal angioma in Sturge-Weber syndrome (SWS). Presymptomatic diagnosis of SWS should help to select patients for early therapy intervention.


Assuntos
Hemangioma/diagnóstico por imagem , Imageamento por Ressonância Magnética , Neoplasias Meníngeas/diagnóstico por imagem , Mancha Vinho do Porto/diagnóstico por imagem , Síndrome de Sturge-Weber/diagnóstico por imagem , Criança , Pré-Escolar , Diagnóstico Precoce , Feminino , Humanos , Lactente , Masculino , Mancha Vinho do Porto/etiologia , Sensibilidade e Especificidade
15.
Pediatr Dermatol ; 37(3): 541-544, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32157705

RESUMO

We report the case of a child who presented with a giant melanocytic nevus with numerous satellite nevi at birth and developed hypophosphatemic rickets due to excessive secretion of the FGF23 hormone. A NRAS c.182A>G (Q61R) mutation was identified in the lesional skin. The functional outcome was favorable with medical treatment.


Assuntos
Nevo Pigmentado , Nevo , Raquitismo Hipofosfatêmico , Neoplasias Cutâneas , Criança , Fator de Crescimento de Fibroblastos 23 , Humanos , Recém-Nascido , Mutação , Nevo Pigmentado/complicações , Nevo Pigmentado/genética , Raquitismo Hipofosfatêmico/complicações , Raquitismo Hipofosfatêmico/diagnóstico , Raquitismo Hipofosfatêmico/genética
17.
Acta Derm Venereol ; 99(12): 1105-1109, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31386166

RESUMO

Managing extracranial arteriovenous malformations is challenging. Sirolimus (rapamycin) is increasingly being used when surgery and embolization are not advised. Because of its anti-angiogenic properties here we report all extracranial arteriovenous malformation cases treated with sirolimus in 2 French tertiary centers for vascular anomalies. The outcomes were efficacy (complete, partial, no response) based on arteriovenous malformation volume and necrosis/hemorrhage and side effects. We retrospectively included 10 patients (7 children). The sirolimus dose ranged from 0.6 to 3.5 mg/m2. Median (interquartile range [IQR]) treatment time was 24.5 (4.5; 35) months. Five patients showed no response and 5 showed partial response at a median (IQR) of 3 (1; 5) months followed in 2 cases by therapeutic resistance (i.e., progressive disease after 9 and 24 months of treatment). The most frequent side effect was mouth ulcers. This study shows poor efficacy of sirolimus for treating extracranial arteriovenous malformations.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Malformações Arteriovenosas/tratamento farmacológico , Inibidores de Proteínas Quinases/uso terapêutico , Tacrolimo/uso terapêutico , Adolescente , Adulto , Inibidores da Angiogênese/efeitos adversos , Malformações Arteriovenosas/diagnóstico por imagem , Criança , Pré-Escolar , Progressão da Doença , Resistência a Medicamentos , França , Humanos , Pessoa de Meia-Idade , Inibidores de Proteínas Quinases/efeitos adversos , Indução de Remissão , Estudos Retrospectivos , Tacrolimo/efeitos adversos , Fatores de Tempo , Falha de Tratamento
18.
Acta Derm Venereol ; 99(6): 539-543, 2019 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-30810215

RESUMO

Methotrexate has demonstrated its efficiency for the treatment of juvenile localized scleroderma but some patients may be resistant. The aim of our study was to define the profile of such patients. We performed an observational retrospective multicenter study between 2007 and 2016 and included all children seen in the French Paediatric Dermatology and Rheumatology departments with active localized scleroderma treated by methotrexate for a minimum of 4 months. Metho-trexate efficacy was assessed clinically and/or by imaging between the fourth to twelfth months of treatment. A total of 57 patients were included. Metho-trexate dosage ranged from 7 to 15 mg/m2/week. Only 4 patients were resistant. No common features could be identified between these 4 patients. Children with localized scleroderma are rarely resistant to metho-trexate and we did not identify a clinical profile for those resistant patients.


Assuntos
Fármacos Dermatológicos/uso terapêutico , Resistência a Medicamentos , Metotrexato/uso terapêutico , Esclerodermia Localizada/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
19.
Am J Dermatopathol ; 41(1): 29-36, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30252693

RESUMO

Langerhans cell (LC) histiocytoma is a neonatal tumor that often consists of a single, ulcerated nodule. Systemic involvement is rare, and LC histiocytoma is considered to be a variant of congenital, self-healing LC histiocytosis (also referred to as Hashimoto-Pritzker disease). In view of its low prevalence, LC histiocytoma is not always diagnosed in a clinical examination and requires histological confirmation. Furthermore, the histological and molecular features of LC histiocytoma have not been well characterized. Here, we report on 6 cases of this rare disease and review the corresponding literature. LC histiocytoma differs from classical self-healing LC histiocytosis with regard to the pathological features; we found that LC histiocytoma was associated with massive infiltration by histiocytes of various sizes and shapes (although often large) throughout the dermis and the superficial subcutis. Epidermotropism was rare, mitotic figures were not inconspicuous, and necrotic or calcified areas were often present. Immunohistochemical assessment revealed a mixture of different types of histiocytes (with CD1a CD207, CD1a CD207, and CD1a CD207 CD163 cells). Genetic testing was performed in 5 cases; it revealed a BRAF mutation (p.V600E and p.485_490delinsF) in 2 cases, a HRAS mutation (p.T58I) in 1 case, a combination of 2 PTEN mutations in another case (p.I224M and p. R234W), and no mutations in the fifth case. All the lesions regressed spontaneously, and none recurred during follow-up.


Assuntos
Histiócitos/patologia , Histiocitoma Fibroso Benigno/patologia , Histiocitose de Células de Langerhans/patologia , Células de Langerhans/patologia , Neoplasias Cutâneas/patologia , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Feminino , Predisposição Genética para Doença , Histiócitos/química , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/genética , Histiocitose de Células de Langerhans/genética , Histiocitose de Células de Langerhans/metabolismo , Humanos , Lactente , Recém-Nascido , Células de Langerhans/química , Masculino , Mutação , Regressão Neoplásica Espontânea , Fenótipo , Neoplasias Cutâneas/química , Neoplasias Cutâneas/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA