RESUMEN
Agents of platinum-based chemotherapy, such as cisplatin or carboplatin, are used in the treatment of a wide range of malignancies that affect children, such as brain tumors, osteosarcoma, neuroblastoma, hepatoblastoma, and germ cell tumors (GCTs). The Cyclophosphamide Equivalent Dose (CED) calculator for reproductive risk does not take platinum-based chemotherapy into account, despite the fact that it accounts for the majority of chemotherapy medications that are typically administered for pediatric GCTs. As a result, exposure to platinum-based drugs throughout infancy can have predictable long-term effects such as infertility, as well as other rare encounters such as lipoma formation and lipomatosis. Lipomas are the most prevalent benign soft tissue tumor subtype. They may be either solitary entities or engaged in multiple lipomatosis, which may have a familial origin or be an acquired disorder. Chemotherapy is a possible cause of lipomatosis. Chemotherapy based on cisplatin has been linked to a variety of long-term consequences, including kidney damage, neurotoxicity, and pulmonary toxicity, and may even create secondary cancers. However, lipoma development is known to occur in fewer than 1 in 100 individuals, and only a few examples of multiple cutaneous lipomatosis triggered by this therapy have been documented. Here we present a very rare case of lipomatosis in a pediatric patient with GCT under cisplatin therapy, which might be the third report of this kind affecting children.
Asunto(s)
Lipoma , Lipomatosis , Neoplasias Hepáticas , Neoplasias de Células Germinales y Embrionarias , Niño , Humanos , Cisplatino/efectos adversos , Platino (Metal)/uso terapéutico , Lipomatosis/tratamiento farmacológico , Lipoma/tratamiento farmacológico , Neoplasias Hepáticas/tratamiento farmacológicoAsunto(s)
Fosfatidilinositol 3-Quinasa Clase I/genética , Mutación con Ganancia de Función , Lipomatosis/tratamiento farmacológico , Mutación Missense , Mutación Puntual , Inhibidores de Proteínas Quinasas/uso terapéutico , Tiazoles/uso terapéutico , Dolor Abdominal/etiología , Adulto , Canadá , Fosfatidilinositol 3-Quinasa Clase I/antagonistas & inhibidores , Femenino , Humanos , Hipertrofia , Pierna/patología , Lipomatosis/enzimología , Lipomatosis/genética , Lipomatosis/patología , Mesenterio/patología , Mancha Vino de Oporto/genética , Inhibidores de Proteínas Quinasas/farmacología , Tiazoles/farmacología , Venas/anomalíasRESUMEN
Macropolycytes are tetraploid neutrophils produced during accelerated myelopoiesis. They have been reported in adults with pernicious anemia, sepsis, and after cytotoxic chemotherapy. Two pediatric cases are reported, one after granulocyte colony-stimulating factor treatment and the other following Kawasaki disease, respectively.
Asunto(s)
Enfermedades de la Médula Ósea/patología , Insuficiencia Pancreática Exocrina/patología , Lipomatosis/patología , Síndrome Mucocutáneo Linfonodular/patología , Neutrófilos/patología , Adolescente , Enfermedades de la Médula Ósea/sangre , Enfermedades de la Médula Ósea/tratamiento farmacológico , Niño , Insuficiencia Pancreática Exocrina/sangre , Insuficiencia Pancreática Exocrina/tratamiento farmacológico , Humanos , Lipomatosis/sangre , Lipomatosis/tratamiento farmacológico , Masculino , Síndrome Mucocutáneo Linfonodular/sangre , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Neutrófilos/metabolismo , Síndrome de Shwachman-DiamondAsunto(s)
Corticoesteroides/uso terapéutico , Lipomatosis/tratamiento farmacológico , Nevo/tratamiento farmacológico , Neoplasias Cutáneas/tratamiento farmacológico , Administración Cutánea , Biopsia , Dermis/patología , Femenino , Humanos , Lipomatosis/patología , Persona de Mediana Edad , Nevo/patología , Neoplasias Cutáneas/patología , Resultado del TratamientoAsunto(s)
Humanos , Femenino , Persona de Mediana Edad , Neoplasias Cutáneas/tratamiento farmacológico , Corticoesteroides/uso terapéutico , Lipomatosis/tratamiento farmacológico , Nevo/tratamiento farmacológico , Neoplasias Cutáneas/patología , Biopsia , Administración Cutánea , Resultado del Tratamiento , Dermis/patología , Lipomatosis/patología , Nevo/patologíaAsunto(s)
Alopecia Areata/patología , Lipomatosis/patología , Dermatosis del Cuero Cabelludo/patología , Ultrasonografía Doppler/métodos , Administración Tópica , Adulto , Alopecia Areata/diagnóstico por imagen , Alopecia Areata/tratamiento farmacológico , Biopsia con Aguja , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Lipomatosis/diagnóstico por imagen , Lipomatosis/tratamiento farmacológico , Enfermedades Raras , Dermatosis del Cuero Cabelludo/diagnóstico por imagen , Dermatosis del Cuero Cabelludo/tratamiento farmacológico , Índice de Severidad de la Enfermedad , Insuficiencia del Tratamiento , Triamcinolona/uso terapéuticoRESUMEN
Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is an uncommon sporadic neurocutaneous syndrome of unknown origin. The rarity and common ignorance of the condition often makes diagnosis difficult. The hallmark of this syndrome is the triad of skin, ocular and central nervous system (CNS) involvement and includes a long list of combination of conditions. Herein we report a case of a 5-month-old male child who presented to our centre with complaint of seizure. The patient had various cutaneous and ocular stigmatas of the disease in the form of patchy alopecia of the scalp, right-sided limbal dermoid and a nodular skin tag near the lateral canthus of the right eye. MRI of the brain was conducted which revealed intracranial lipoma and arachnoid cyst. The constellation of signs and symptoms along with the skin, ocular and CNS findings led to the diagnosis of ECCL.
Asunto(s)
Oftalmopatías/diagnóstico por imagen , Lipomatosis/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Síndromes Neurocutáneos/diagnóstico por imagen , Anticonvulsivantes/uso terapéutico , Diagnóstico Diferencial , Oftalmopatías/tratamiento farmacológico , Humanos , Lactante , Lipomatosis/tratamiento farmacológico , Masculino , Síndromes Neurocutáneos/tratamiento farmacológicoRESUMEN
We present a patient with prednisone-induced spinal epidural lipomatosis (SEL) and relatively acute neurologic deterioration followed by rapid recovery after surgical decompression. SEL is a rare disease characterized by hypertrophy of epidural fat, most commonly associated with exogenous steroid use. To our knowledge, an analysis of the dynamics of steroid dose related to time to onset has never been performed, or of patient presentation features with respect to patient outcome. We retrospectively reviewed the literature for English language series and case reports of SEL associated with prednisone use from 1975-2013. Data were compiled for 41 patients regarding the prescribed dose of prednisone and length of treatment, as well as the severity of symptoms on the Ranawat scale, time to onset, time to recovery, and degree of recovery of neurological symptoms. Fisher's exact test and analysis of variance were used for comparing proportions, and p values <0.05 were considered statistically significant. We found that the mean cumulative dose of prednisone trended towards an association with a lack of recovery (p=0.06) and may be related to rate of recovery. Prescribed prednisone dose varied inversely with the time before onset of neurological symptoms, but failed to reach statistical significance. Higher severity of presenting symptoms on the Ranawat scale were found to be associated with a higher likelihood of delayed recovery (p=0.035). Patients with symptoms lower on the Ranawat scale more frequently experienced complete neurologic recovery, though this did not reach significance. The acuity of neurological deterioration was not related to the time to recovery or ultimate degree of recovery. Severity of presentation on the Ranawat scale is associated with rate of recovery and may be related to degree of recovery in SEL patients. Cumulative dose of prednisone may be related to degree and rate of recovery. Prescribed dose of prednisone may be related to time to onset of neurological symptoms. Acuity of neurological deterioration is not related to rate or degree of recovery.
Asunto(s)
Espacio Epidural/patología , Lipomatosis/tratamiento farmacológico , Lipomatosis/patología , Enfermedades de la Columna Vertebral/tratamiento farmacológico , Enfermedades de la Columna Vertebral/patología , Antiinflamatorios/administración & dosificación , Antiinflamatorios/uso terapéutico , Diabetes Mellitus Tipo 2/complicaciones , Femenino , Humanos , Persona de Mediana Edad , Enfermedades Orbitales/complicaciones , Prednisona/administración & dosificación , Prednisona/uso terapéutico , Enfermedad Pulmonar Obstructiva Crónica/complicaciones , Trastornos de la Visión/complicacionesRESUMEN
Immune function abnormalities have been reported in patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and, rarely, in Shwachman-Diamond syndrome (SDS), and Diamond-Blackfan anemia (DBA), but large systematic studies are lacking. We assessed immunological parameters in 118 patients with these syndromes and 202 unaffected relatives. We compared the results in patients with reference values, and with values in relatives after adjusting for age, sex, corticosteroid treatment, and severe bone marrow failure (BMF). Adult patients (≥18 years) with FA had significantly lower immunoglobulins (IgG, IgA and IgM), total lymphocytes, and CD4 T cells than reference values or adult relatives (P < 0.001); children with FA had normal values. Both children and adults with FA had lower B- and NK cells (P < 0.01) than relatives or reference values. Patients with DC had essentially normal immunoglobulins but lower total lymphocytes than reference values or relatives, and lower T-, B-, and NK-cells; these changes were more marked in children than adults (P < 0.01). Most patients with DBA and SDS had normal immunoglobulins and lymphocytes. Lymphoproliferative responses, serum cytokine levels, including tumor necrosis factor-α and interferon-γ, and cytokine levels in supernatants from phytohemagglutinin-stimulated cultures were similar across patient groups and relatives. Only patients with severe BMF, particularly those with FA and DC, had higher serum G-CSF and Flt3-ligand and lower RANTES levels compared with all other groups or relatives (P < 0.05). Overall, immune function abnormalities were seen mainly in adult patients with FA, which likely reflects their disease-related progression, and in children with DC, which may be a feature of early-onset severe disease phenotype.
Asunto(s)
Anemia de Diamond-Blackfan/diagnóstico , Enfermedades de la Médula Ósea/diagnóstico , Disqueratosis Congénita/diagnóstico , Insuficiencia Pancreática Exocrina/diagnóstico , Anemia de Fanconi/diagnóstico , Hemoglobinuria Paroxística/diagnóstico , Lipomatosis/diagnóstico , Adolescente , Corticoesteroides/uso terapéutico , Adulto , Anciano , Anemia Aplásica , Anemia de Diamond-Blackfan/tratamiento farmacológico , Anemia de Diamond-Blackfan/inmunología , Anemia de Diamond-Blackfan/patología , Linfocitos B/efectos de los fármacos , Linfocitos B/inmunología , Linfocitos B/patología , Enfermedades de la Médula Ósea/congénito , Enfermedades de la Médula Ósea/tratamiento farmacológico , Enfermedades de la Médula Ósea/inmunología , Trastornos de Fallo de la Médula Ósea , Estudios de Casos y Controles , Niño , Preescolar , Citocinas/biosíntesis , Citocinas/inmunología , Disqueratosis Congénita/tratamiento farmacológico , Disqueratosis Congénita/inmunología , Disqueratosis Congénita/patología , Insuficiencia Pancreática Exocrina/congénito , Insuficiencia Pancreática Exocrina/tratamiento farmacológico , Insuficiencia Pancreática Exocrina/inmunología , Familia , Anemia de Fanconi/tratamiento farmacológico , Anemia de Fanconi/inmunología , Anemia de Fanconi/patología , Femenino , Factor Estimulante de Colonias de Granulocitos/biosíntesis , Factor Estimulante de Colonias de Granulocitos/inmunología , Hemoglobinuria Paroxística/congénito , Hemoglobinuria Paroxística/tratamiento farmacológico , Hemoglobinuria Paroxística/inmunología , Humanos , Inmunoglobulinas/biosíntesis , Lactante , Interferón gamma/biosíntesis , Interferón gamma/inmunología , Células Asesinas Naturales/efectos de los fármacos , Células Asesinas Naturales/inmunología , Células Asesinas Naturales/patología , Lipomatosis/congénito , Lipomatosis/tratamiento farmacológico , Lipomatosis/inmunología , Masculino , Proteínas de la Membrana/biosíntesis , Proteínas de la Membrana/inmunologíaRESUMEN
Congenital infiltrating lipomatosis is a benign yet locally invasive lipomatous tumor. Current treatment involves surgical excision and reconstruction of craniofacial deformity. Invasion of vital structures often makes complete resection problematic and recurrence is common. We present the case of a 15-year-old female patient with extensive congenital infiltrating lipomatosis involving the left face. A broad treatment algorithm was devised involving surgical resection as well as targeted chemotherapy. At 18 month follow-up the patient demonstrated improved facial symmetry without evidence of disease progression. Combining surgical and medical intervention may allow for a synergistic approach to controlling this rare disease.
Asunto(s)
Neoplasias Faciales/congénito , Neoplasias Faciales/patología , Lipomatosis/congénito , Lipomatosis/patología , Receptores del Factor de Crecimiento Derivado de Plaquetas/administración & dosificación , Adolescente , Biopsia con Aguja , Quimioterapia Adyuvante , Neoplasias Faciales/tratamiento farmacológico , Neoplasias Faciales/cirugía , Femenino , Estudios de Seguimiento , Humanos , Inmunohistoquímica , Lipomatosis/tratamiento farmacológico , Lipomatosis/cirugía , Imagen por Resonancia Magnética/métodos , Enfermedades Raras , Medición de Riesgo , Tomografía Computarizada por Rayos X/métodos , Resultado del TratamientoRESUMEN
Lipomatosis of nerve is a rare benign tumor-like process characterized by infiltration of the epineurium by adipose and fibrous tissue leading to nerve enlargement. We describe a case of lipomatosis of the sciatic nerve compressed by an adjacent desmoid tumor. This case supports the hypothesis that lipomatosis of nerve may form as a result of irritation or compression by adjacent structures.
Asunto(s)
Fibromatosis Agresiva/complicaciones , Fibromatosis Agresiva/diagnóstico , Lipomatosis/diagnóstico , Lipomatosis/etiología , Neoplasias del Sistema Nervioso Periférico/complicaciones , Neoplasias del Sistema Nervioso Periférico/diagnóstico , Neuropatía Ciática/etiología , Adulto , Antineoplásicos/uso terapéutico , Femenino , Fibromatosis Agresiva/tratamiento farmacológico , Humanos , Lipomatosis/tratamiento farmacológico , Neoplasias del Sistema Nervioso Periférico/tratamiento farmacológico , Neuropatía Ciática/diagnóstico , Neuropatía Ciática/prevención & control , Resultado del TratamientoRESUMEN
Lipomatous hypertrophy of the interatrial septum is a pathological thickening of the interatrial septum characterized by a benign infiltration of fat. It usually occurs in older, obese persons and in most cases the diagnosis is made incidentally. Atrial arrhythmias may occur and in rare cases also superior vena cava syndrome caused by obstruction of venous inflow to the right atrium. We present a case of lipomatous hypertrophy of the interatrial septum in an 81-year-old woman with atrial arrhythmia.
Asunto(s)
Arritmias Cardíacas/etiología , Hipertrofia/complicaciones , Lipomatosis/complicaciones , Anciano de 80 o más Años , Tabique Interatrial/diagnóstico por imagen , Tabique Interatrial/patología , Femenino , Humanos , Hipertrofia/diagnóstico por imagen , Hipertrofia/tratamiento farmacológico , Lipomatosis/diagnóstico por imagen , Lipomatosis/tratamiento farmacológico , Tomografía Computarizada Multidetector , UltrasonografíaRESUMEN
Although anemia is common in Shwachman- Diamond syndrome (SDS), the underlying mechanism remains unclear. We asked whether SBDS, which is mutated in most SDS patients, is critical for erythroid development. We found that SBDS expression is high early during erythroid differentiation. Inhibition of SBDS in CD34(+) hematopoietic stem cells and early progenitors (HSC/Ps) and K562 cells led to slow cell expansion during erythroid differentiation. Induction of erythroid differentiation resulted in markedly accelerated apoptosis in the knockdown cells; however, proliferation was only mildly reduced. The percentage of cells entering differentiation was not reduced. Differentiation also increased the oxidative stress in SBDS-knockdown K562 cells, and antioxidants enhanced the expansion capability of differentiating SBDS-knockdown K562 cells and colony production of SDS patient HSC/Ps. Erythroid differentiation also resulted in reduction of all ribosomal subunits and global translation. Furthermore, stimulation of global translation with leucine improved the erythroid cell expansion of SBDS-knockdown cells and colony production of SDS patient HSC/Ps. Leucine did not reduce the oxidative stress in SBDS-deficient K562 cells. These results demonstrate that SBDS is critical for normal erythropoiesis. Erythropoietic failure caused by SBDS deficiency is at least in part related to elevated ROS levels and translation insufficiency because antioxidants and leucine improved cell expansion.
Asunto(s)
Eritropoyesis , Proteínas/metabolismo , Antioxidantes/farmacología , Apoptosis , Enfermedades de la Médula Ósea/tratamiento farmacológico , Enfermedades de la Médula Ósea/metabolismo , Proliferación Celular , Células Cultivadas , Ensayo de Unidades Formadoras de Colonias , Células Precursoras Eritroides/citología , Células Precursoras Eritroides/efectos de los fármacos , Células Precursoras Eritroides/metabolismo , Insuficiencia Pancreática Exocrina/tratamiento farmacológico , Insuficiencia Pancreática Exocrina/metabolismo , Regulación de la Expresión Génica , Técnicas de Silenciamiento del Gen , Células Madre Hematopoyéticas/citología , Células Madre Hematopoyéticas/efectos de los fármacos , Células Madre Hematopoyéticas/metabolismo , Humanos , Células K562 , Leucina/metabolismo , Lipomatosis/tratamiento farmacológico , Lipomatosis/metabolismo , Estrés Oxidativo , Biosíntesis de Proteínas , Proteínas/antagonistas & inhibidores , Proteínas/genética , ARN Mensajero/metabolismo , ARN Interferente Pequeño , Especies Reactivas de Oxígeno/metabolismo , Proteínas Recombinantes/antagonistas & inhibidores , Proteínas Recombinantes/metabolismo , Ribosomas/metabolismo , Síndrome de Shwachman-DiamondRESUMEN
Presentamos a una mujer de 75 años, con antecedente de psoriasis a grandes placas, de 40 años de evolución. Luego de múltiples tratamientos tópicos y sistémicos que mejoraron su dermatosis, se observaron placas amarillo-anaranjadas infiltradas, de localización paravertebral. El estudio histopatológico informó la presencia de adipocitos maduros en banda en dermis reticular. Se realizó el diagnóstico de metaplasia lipomatosa. En la piel, la metaplasia lipomatosa es sumamente infrecuente. Se postula que la metaplasia puede ocurrir como consecuencia de la inflamación crónica y severa de la piel.
We report the case of a 75 year-old woman who had been suffering from severe large-plaquepsoriasis during forty years. After multiple topical and systemic treatments her psoriasisimproved and yellowish-orange, dorsal, infiltrated plaques were observed.Histology of skin biopsies showed a band of mature adipocytes in the reticular dermis. Thediagnosis of lipomatous metaplasia was considered.Lipomatous metaplasia of the skin is very infrequent. Up to date, we have found only onereport, in which the authors hypothesize that it can occur as a consequence of severe chronic inflammation of the skin.
Asunto(s)
Humanos , Anciano , Femenino , Metaplasia/etiología , Tejido Adiposo/patología , Inflamación/complicaciones , Lipomatosis/etiología , Lipomatosis/tratamiento farmacológico , Piel/patología , Psoriasis/complicacionesAsunto(s)
Enfermedades de la Médula Ósea/epidemiología , Diabetes Mellitus/epidemiología , Cetoacidosis Diabética/epidemiología , Insuficiencia Pancreática Exocrina/epidemiología , Lipomatosis/epidemiología , Adulto , Enfermedades Óseas Metabólicas/epidemiología , Enfermedades de la Médula Ósea/tratamiento farmacológico , Enfermedades de la Médula Ósea/genética , Deleción Cromosómica , Cromosomas Humanos Par 7/genética , Comorbilidad , Diabetes Mellitus/tratamiento farmacológico , Cetoacidosis Diabética/tratamiento farmacológico , Terapia Enzimática , Insuficiencia Pancreática Exocrina/tratamiento farmacológico , Insuficiencia Pancreática Exocrina/genética , Femenino , Humanos , Insulina/uso terapéutico , Lipomatosis/tratamiento farmacológico , Lipomatosis/genética , Páncreas/enzimología , Síndrome de Shwachman-Diamond , Resultado del TratamientoRESUMEN
Injections with phosphatidylcholine- and deoxycholate-containing substances are used to reduce localized fat accumulations. Recent studies have suggested that this procedure may be a non-surgical alternative for reducing the size of lipomas. However, only short-term data about efficacy are available, and it is unclear whether a permanent reduction in lipoma size is possible. In the present case we report a patient who presented with recurrent growth lipomas that were previously successfully treated using phosphatidylcholine and deoxycholate.
Asunto(s)
Ácido Desoxicólico/uso terapéutico , Lipomatosis/tratamiento farmacológico , Fosfatidilcolinas/uso terapéutico , Adulto , Ácido Desoxicólico/administración & dosificación , Humanos , Inyecciones Intralesiones , Masculino , Fosfatidilcolinas/administración & dosificación , RecurrenciaRESUMEN
Because thyrolipoma (adenolipoma of thyroid) and thyrolipomatosis (diffuse lipomatosis of thyroid) are distinctively rare conditions with only few cases reported in the literature, we are reporting 5 additional cases. All the 5 patients were adult females, with ages from 38 to 79 years, who presented with thyroid masses. Four of the patients had normal thyroid function tests and one had mild hypothyroidism. All patients received partial or total thyroidectomy. The thyroid specimens showed either circumscribed yellow-tan masses (cases 1, 2, and 3) or diffuse yellow-brown discoloration (cases 4 and 5). Histologic examination revealed abundant mature fat infiltrating the affected thyroid tissue in 3 distinct patterns: (1) fat infiltration limited to follicular adenomas (thyrolipoma); (2) fat diffusely infiltrating throughout the thyroid gland (thyrolipomatosis); or (3) fat infiltration involving both follicular adenoma and their surrounding thyroid tissue. Because of the rarity of thyroid fat-containing lesions, confusion in differential diagnosis may occasionally occur. It is important to be aware during frozen section that these lesions may present as extrathyroidal nodules, which can be radioactive on intraoperative scan for parathyroid glands. In addition, a papillary thyroid carcinoma was also identified in one case of thyrolipomatosis. All patients recovered well after surgery and there has been no recurrence of the lesions after 1 to 24 years of clinical follow-up. In summary, we are reporting 5 rare cases of thyrolipoma and thyrolipomatosis with distinct histologic patterns. Previously reported cases of thyrolipomatosis were reviewed and analyzed with the current cases.
Asunto(s)
Lipoma/patología , Lipomatosis/patología , Enfermedades de la Tiroides/patología , Adulto , Anciano , Terapia Combinada , Femenino , Humanos , Lipoma/tratamiento farmacológico , Lipoma/cirugía , Lipomatosis/tratamiento farmacológico , Lipomatosis/cirugía , Persona de Mediana Edad , Enfermedades de la Tiroides/tratamiento farmacológico , Enfermedades de la Tiroides/cirugía , Pruebas de Función de la Tiroides , Tiroidectomía , Tiroxina/uso terapéutico , Resultado del TratamientoRESUMEN
Spinal epidural lipomatosis is a rare condition, described in corticoadrenal hyperactivity. It is most commonly seen in association with steroid administration and occasionally with Cushing's syndrome. This is the first case report of spinal epidural lipomatosis as presenting finding in a patient with non-small-cell lung carcinoma without any evidence of endogenous or exogenous hypercortisolism. The additional interesting feature is the paraneoplastic behaviour of this condition and even more interestingly its resolution following chemo-treatment of the primary cancer. Spinal epidural lipomatosis is a benign condition, which must be considered in the differential diagnosis of spinal cord compression in this category of patients. Its pathophysiology remains to be discovered in future.