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1.
Dermatol Online J ; 26(1)2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-32155030

RESUMO

Symmetric lipomatosis of the tongue (SLT) is rare and characterized by diffuse growth and unencapsulated lipomas. An 87-year-old man was referred for evaluation of tongue lesions. Intraoral findings showed soft yellowish nodules with a smooth shiny surface diffusely on the lateral border of the tongue, bilaterally. Our clinical diagnosis was multiple tongue lipomas and an incisional biopsy was done. Histopathological examination revealed unencapsulated lobules of mature adipocytes with slight variation in the size and shape, confirming the diagnosis of lipoma. The final diagnosis was SLT. On follow-up at 6 months, the tongue findings were unchanged and no new lesions were observed.


Assuntos
Lipomatose/patologia , Neoplasias da Língua/patologia , Idoso de 80 Anos ou mais , Biópsia , Diagnóstico Diferencial , Humanos , Lipomatose/diagnóstico , Lipomatose Simétrica Múltipla/diagnóstico , Masculino , Língua/patologia
4.
World Neurosurg ; 129: 341-344, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31228704

RESUMO

BACKGROUND: We review 2 previously published cases of epidural lipomatosis associated with syringomyelia. We also present the case of a 42-year-old woman with a medullary syrinx from C1 to T3, initially only with upper limb paresthesias that presented after 10 years of follow-up for left hemiparesis and paresthesias in the tongue. Chiari malformation and cerebral or spinal space-occupying lesions were ruled out, as were other causes of syrinx except the presence of epidural lipomatosis extending from T1 to T12. CASE DESCRIPTION: Right laminotomies were performed from T1 to T12, removing excessive epidural fat tissue. After surgery the symptoms remained stable. At discharge the patient progressively recovered from the hemiparesis, and in follow-up magnetic resonance imaging the resolution of the syrinx was confirmed. CONCLUSIONS: This is the third case of a patient with a spinal syrinx and no other related causes except from spinal lipomatosis, although with only 3 cases it is not possible to completely state that lipomatosis caused the syrinx. Our case supports the trend established by the 2 previous cases. For treatment, initially patients should be managed conservatively, trying to correct the underlying etiologies of spinal lipomatosis. In case of failed conservative treatment, removal of adipose epidural excess in the most appropriate way is preferred.


Assuntos
Espaço Epidural/patologia , Lipomatose/complicações , Siringomielia/etiologia , Adulto , Feminino , Humanos , Lipomatose/patologia , Siringomielia/patologia
5.
World Neurosurg ; 129: e555-e560, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31154102

RESUMO

BACKGROUND: Diverse adipose lesions can affect peripheral nerves, including an intrinsic disorder known as lipomatosis of nerve (LN). This condition leads to massive nerve enlargement and has often been associated with nerve territory overgrowth. Although LN has been well documented as a peripheral lesion, it is uncertain whether LN can occur or extend intradurally. METHODS: In the present 2-part study, we searched our institutional database and the world literature to identify any case of LN occurring or extending intradurally. Strict pathognomonic imaging and histopathologic features of LN were required to be present. RESULTS: We did not identify any case of LN that had occurred or extended intradurally in our institution. Specifically, in our database, we found no case of intradural LN, and an evaluation of the imaging studies of proximal examples of LN did not show any extension proximal to the spinal foramen. Our literature search identified 208 reports of potential interest, of which only 3 had reported on spinal LN. Although 2 of the 3 cases showed some similarities to LN, none had demonstrated features diagnostic for LN and none had demonstrated nerve territory overgrowth. A review of 16 cases of LN in proximal locations summarized in a recently reported systematic review did not reveal any cases with LN proximal to the foramen or in an intradural location. CONCLUSION: A review of our institutional cases and reported cases did not show any example of LN extending or occurring intradurally. It appears that LN is a benign tumor-like nerve lesion that is without a central location, unlike more well-known tumors such as schwannomas.


Assuntos
Lipomatose/patologia , Nervos Periféricos/patologia , Adulto , Idoso , Feminino , Humanos , Lipomatose/diagnóstico por imagem , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Nervos Periféricos/diagnóstico por imagem , Estudos Retrospectivos , Adulto Jovem
6.
J Int Med Res ; 47(6): 2674-2678, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30971132

RESUMO

Pelvic lipomatosis is an uncommon disease with no clear etiology and it occurs secondary to deposition of a large amount of fatty tissue in the pelvis. This deposition causes compression to the rectum, bladder, and venous structures. Because of this compression, various symptoms, such as recurrent urinary infections, dysuria, tenesmus, and constipation, have mostly been reported. However, iliac or superior vena cava thrombosis secondary to vascular compression of pelvic lipomatosis is rare. This report describes a case of pelvic lipomatosis, which was associated with right-sided mild hydronephrosis and portal vein thrombosis.


Assuntos
Hidronefrose/patologia , Lipomatose/patologia , Veia Porta/patologia , Doenças da Bexiga Urinária/patologia , Trombose Venosa/patologia , Idoso , Feminino , Humanos , Hidronefrose/complicações , Hidronefrose/cirurgia , Lipomatose/complicações , Lipomatose/cirurgia , Veia Porta/cirurgia , Prognóstico , Doenças da Bexiga Urinária/complicações , Doenças da Bexiga Urinária/cirurgia , Trombose Venosa/complicações , Trombose Venosa/cirurgia
7.
Mol Genet Genomic Med ; 7(5): e625, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30891959

RESUMO

BACKGROUND: Postzygotic KRAS, HRAS, NRAS, and FGFR1 mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo-cranio-cutaneous lipomatosis (ECCL), and Schimmelpenning-Feuerstein-Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies. METHODS: Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of KRAS, HRAS, NRAS, and FGFR1 genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low-level mosaicism. RESULTS: In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids. CONCLUSION: Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in KRAS and FGFR1 is a commonly involved mechanism in these rare oculocutaneous anomalies.


Assuntos
Cisto Dermoide/genética , Displasia Ectodérmica/genética , Oftalmopatias/genética , Lipomatose/genética , Síndromes Neurocutâneas/genética , Nevo Sebáceo de Jadassohn/genética , Fenótipo , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Cisto Dermoide/patologia , Displasia Ectodérmica/patologia , Oftalmopatias/patologia , GTP Fosfo-Hidrolases/genética , Humanos , Lipomatose/patologia , Proteínas de Membrana/genética , Mosaicismo , Síndromes Neurocutâneas/patologia , Nevo Sebáceo de Jadassohn/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética
8.
BMJ Case Rep ; 12(2)2019 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-30772832

RESUMO

A 73-year-old man underwent bilateral spinal decompression of L4/5 for severe spinal canal stenosis, requiring minimal analgesia and providing immediate relief. Two days post-operatively, he presented with new onset bilateral leg pain and difficulty mobilising. MRI demonstrated spinal epidural lipomatosis (SEL), which was not present pre-operatively, at L5/S1. Further surgery was performed with decompression of L5/S1 through removal of epidural fat. At both 3 weeks and 5 months follow-up clinics, the patient was asymptomatic. To our knowledge, this is the first case of acute spinal epidural lipomatosis directly following spinal surgery. It is important to recognise SEL as a complication following spinal surgical intervention, due to the potential development of significant neurological consequences.


Assuntos
Descompressão Cirúrgica , Espaço Epidural/patologia , Lipomatose/patologia , Doenças da Medula Espinal/patologia , Estenose Espinal/cirurgia , Idoso , Descompressão Cirúrgica/efeitos adversos , Espaço Epidural/diagnóstico por imagem , Espaço Epidural/cirurgia , Humanos , Lipomatose/diagnóstico por imagem , Lipomatose/cirurgia , Imagem por Ressonância Magnética , Masculino , Complicações Pós-Operatórias , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/cirurgia , Estenose Espinal/fisiopatologia , Resultado do Tratamento
9.
World Neurosurg ; 126: e33-e40, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30708081

RESUMO

BACKGROUND: Symptomatic spinal epidural lipomatosis (SSEL) is characterized by hypertrophy of adipose tissue within the spinal canal and consequent neural compromise. The exact pathogenesis remains enigmatic. The authors describe a retrospective case series, define the full clinical spectrum, and discuss possible pathogenetic mechanisms. METHODS: The medical notes and imaging of 9 patients with SSEL undergoing surgery from 2008-2018 were analyzed. Seven patients presented secondary to lumbosacral spinal epidural lipomatosis (SEL); 3 patients with chronic incomplete cauda equina syndrome (CES), 3 patients with acute CES (including a 25-week gravid patient and a 40-year-old patient with intravenous leiomyomatosis, both of whom had mild SEL) and 1 patient with chronic lumbar radiculopathy. In addition, 2 patients presented with progressive myelopathy secondary to thoracic SEL. RESULTS: Patients presenting with acute CES had a mean age of 37 years (range 23-49 years) and mean extradural fat (EF)-to-spinal canal (SC) ratio of 47% (range 41%-58%), in comparison with patients with chronic CES; mean age 61 years (range 58-65 years) and EF:SC ratio 72% (range 65%-80%). Patients underwent laminectomy and resection of EF at compressive levels. All patients with CES experienced complete resolution of symptoms at follow-up (range 1-48 months). CONCLUSIONS: The clinician should be astute to the radiologic features of SEL, particularly in patients presenting with CES in the absence of acute disk herniation. The outcome of patients with CES and SEL after surgery is excellent regardless of symptom duration. Venous impedance related to increased body mass index and EF deposition may play the predominant role in addition to mechanical compression in the pathogenesis of SSEL.


Assuntos
Espaço Epidural/diagnóstico por imagem , Espaço Epidural/patologia , Lipomatose/diagnóstico por imagem , Lipomatose/patologia , Procedimentos Neurocirúrgicos/métodos , Doenças da Coluna Vertebral/diagnóstico por imagem , Doenças da Coluna Vertebral/patologia , Adulto , Idoso , Síndrome da Cauda Equina/complicações , Descompressão Cirúrgica/métodos , Espaço Epidural/cirurgia , Feminino , Seguimentos , Humanos , Laminectomia , Lipomatose/cirurgia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Gravidez , Radiculopatia/complicações , Estudos Retrospectivos , Doenças da Medula Espinal/complicações , Doenças da Coluna Vertebral/cirurgia , Resultado do Tratamento , Adulto Jovem
10.
Acta Neurochir (Wien) ; 161(4): 679-684, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30798481

RESUMO

BACKGROUND: Lipomatosis of nerve (LN) is a peripheral nerve disorder characterized by fibroadipose proliferation within the epineurium. It has been associated with nerve-territory overgrowth affecting soft tissue and/or bony structures. We sought to understand if there is an anatomical relationship associated with nerve-territory overgrowth. METHODS: A review of the literature and our institutional LN cases was performed to determine the prevalence of nerve-territory overgrowth. Only cases with sufficient clinical and/or imaging data were selected. The cases were then subdivided into two groups and analyzed: (1) motor (mixed) nerve and (2) predominant sensory nerve, based on the anatomical location of the LN lesion. Subgroup analysis was performed on median nerves affected by LN, for a more homogenous population. RESULTS: We identified 329 LN cases with sufficient information for analysis. Motor (mixed) nerve group (M) consisted of 287 cases (155 with overgrowth and 132 without overgrowth). Sensory nerve group (S) revealed group of 42 cases (4 cases with overgrowth and 38 without overgrowth). Statistical analysis comparing overgrowth status in the M and S nerve groups showed a statistically significant difference in overgrowth, favoring the M group for overgrowth (p < 0.0001). The analysis of median nerve group consisted of 225 cases in the M group (106 with overgrowth and 119 without overgrowth) and 20 cases in the S group (3 with overgrowth and 17 cases without overgrowth). A statistically significant difference in nerve-territory overgrowth status was present in the M vs. the S group, again favoring the M group for overgrowth. (p = 0.0083). Cases from our institution included 44 cases for this analysis. Forty-two cases in the M group (28 with overgrowth and 14 without overgrowth) and 2 cases in the S group (all 2 without overgrowth). CONCLUSION: We believe the association of LN and nerve-territory overgrowth might be explained by involvement of mixed motor nerves; however, the exact underlying mechanism is not known.


Assuntos
Lipomatose/patologia , Nervo Mediano/patologia , Doenças do Sistema Nervoso Periférico/patologia , Feminino , Humanos , Lipomatose/epidemiologia , Masculino , Neurônios Motores/patologia , Doenças do Sistema Nervoso Periférico/epidemiologia , Prevalência , Células Receptoras Sensoriais/patologia
12.
Pediatr Blood Cancer ; 66(5): e27597, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30604473

RESUMO

Shwachman-Diamond syndrome (SDS) is one of the more common inherited bone marrow failure syndromes, characterized by neutropenia, occasional thrombocytopenia, and anemia. Bone marrow evaluation reveals an increased number of monocytes and mature B cells along with decreased granulocytes. However, little is known about the subpopulations of peripheral blood cells, and few previous publications have been based on a small number of patients. Here, we report a comprehensive immunophenotypic analysis from a cohort of 37 SDS patients who display impairment mostly in the myeloid compartment with a deficiency also in the number of B cells and CD4/CD8 double-negative T cells.


Assuntos
Linfócitos B/imunologia , Doenças da Medula Óssea/sangue , Doenças da Medula Óssea/imunologia , Insuficiência Pancreática Exócrina/sangue , Insuficiência Pancreática Exócrina/imunologia , Imunofenotipagem/métodos , Leucócitos Mononucleares/imunologia , Lipomatose/sangue , Lipomatose/imunologia , Adolescente , Adulto , Doenças da Medula Óssea/patologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Insuficiência Pancreática Exócrina/patologia , Feminino , Seguimentos , Humanos , Lactente , Lipomatose/patologia , Masculino , Prognóstico , Síndrome de Shwachman-Diamond , Adulto Jovem
13.
J Hum Genet ; 64(2): 177-181, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30443000

RESUMO

Schimmelpenning syndrome is a rare neurocutaneous disorder categorized as a mosaic RASopathy due to postzygotic HRAS or KRAS mutations. We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. The patient had three atypical symptoms of Schimmelpenning syndrome: renovascular hypertension, congenital lipomatosis, and diabetes mellitus. The first two symptoms may overlap with phenotypes of other neurocutaneous syndromes or congenital lipomatous overgrowth syndrome due to mosaic RASopathies or other somatic mosaic mutations. We propose that impaired glucose tolerance was caused by KRAS mutation and a novel clinical phenotype of Schimmelpenning syndrome. Our study indicated that clinical diagnosis of Schimmelpenning syndrome or related conditions should be reorganized with genetic diagnosis of postzygotic mutation. Moreover, further accumulation of genetically proven cases with mosaic RASopathies should be used to more accurately characterize phenotypic presentations of this syndrome and develop a future therapeutic strategy, such as molecular-targeted therapy.


Assuntos
Diabetes Mellitus/genética , Hipertensão Renovascular/genética , Lipomatose/genética , Mutação , Nevo Sebáceo de Jadassohn/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Zigoto , Criança , Diabetes Mellitus/patologia , Feminino , Humanos , Hipertensão Renovascular/patologia , Lipomatose/patologia , Mosaicismo , Nevo Sebáceo de Jadassohn/patologia , Fenótipo , Prognóstico
17.
J Pediatr Hematol Oncol ; 41(2): 137, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30475299
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