Sweating Blood: A Case Series of 2 Siblings With Hematohidrosis.

Hematohidrosis is a condition that presents with the excretion of blood from intact skin. Reported cases suggest emotional stress reactions as the most common inciting events. The pathogenesis of the condition is not well understood. We describe a 9-year old boy and his 6-month old half-sister with a history of bleeding episodes from the ears, eyes, and scalp, as well as other sites. Symptoms in both children have shown a positive response to propranolol, with decreased frequency and severity of bleeding. There are no prior reports of siblings with hematohidrosis, suggesting a possible genetic predisposition.

Presentation and Treatment of Histoplasmosis in Pediatric Oncology Patients: Case Series and Review of the Literature.

Histoplasmosis is an endemic fungus in several regions of the United States. The diagnosis and treatment of this infection can be challenging in pediatric oncology patients. We present 5 patients diagnosed with histoplasmosis while receiving treatment at a midsize pediatric oncology center in Iowa. Two cases occurred in patients with acute lymphoblastic leukemia and 3 cases in patients with solid tumors. All patients were treated with antifungal therapy and demonstrated excellent clinical response. Histoplasmosis should be considered as a potential cause of nonspecific febrile illness, pulmonary masses, and bone marrow suppression in immunocompromised patients in endemic regions. Prompt and accurate diagnosis can facilitate timely antifungal therapy and avoidance of prolonged hospital stays, invasive testing, unnecessary antibiotics, and unwarranted anticancer therapies.

Retinoic acid induces REST degradation and neuronal differentiation by modulating the expression of SCF(ß-TRCP) in neuroblastoma cells.

BACKGROUND: The repressor element-1 silencing transcription factor (REST) is a repressor of neuronal genes. Its expression is associated with poor neuronal differentiation in many neuroblastoma patient samples and cell lines. Because retinoic acid promotes neuronal differentiation, the authors postulated that it involves modulation of REST expression. METHODS: The expression of REST and of an S-phase kinase-associated protein 1/cullin 1/F-box (SCF) protein complex that contains the F-box protein ß-transducin repeat-containing protein (ß-TRCP) (SCF(ß-TRCP) ) in neuroblastoma tumor samples and cell lines was analyzed by immunofluorescence and Western blot analysis. SK-N-SH and SK-N-AS cells were treated with retinoic acid and MG-132 to measure proteasomal degradation of REST by Western blot and quantitative real-time polymerase chain reaction analyses. Immunoprecipitation and coimmunoprecipitation assays were done in SK-N-AS cells that were transfected either with a control plasmid or with an enhanced green fluorescent protein-SCF(ß-TRCP) -expressing plasmid. RESULTS: Several neuroblastoma patient samples and cell lines displayed elevated REST expression. Although, REST transcription increased upon retinoic acid treatment in SK-N-SH and SK-N-AS cells, REST protein levels declined, concomitant with the induction of neuronal differentiation, in SK-N-SH cells but not in SK-N-AS cells. MG-132 treatment countered the retinoic acid-mediated decline in REST protein. SCF(ß-TRCP) , a known REST-specific E3-ligase, was poorly expressed in many neuroblastoma samples, and its expression increased upon retinoic acid treatment in SK-N-SH cells but declined in SK-N-AS cells. Ectopic expression of SCF(ß-TRCP) in SK-N-AS cells promoted REST ubiquitination and degradation and neuronal differentiation. CONCLUSIONS: The current results indicated that elevated transcription of REST compounded by its impaired degradation by SCF(ß-TRCP) may contribute to the failure of these tumors to differentiate in response to retinoic acid.

Sorafenib plus valproic acid for infant spinal glioblastoma.

SUMMARY: Spinal glioblastoma multiforme (GBM) is rare in children. New therapeutic options should be explored given the poor outcomes reported. We describe the case of an infant with spinal GBM whose condition worsened despite radiotherapy and chemotherapy. Immunohistochemical analysis of the tumor sample showed activation of the Raf-MEK-ERK pathway. Targeted pharmacologic therapy with sorafenib plus valproic acid led to decrease in the size of the tumor and improvement of symptoms. We conclude that regulation of the mitogen-activated protein kinase pathway using sorafenib plus valproic acid warrants further investigation for the management of childhood GBM.

Imaging and spectroscopic findings in meningioangiomatosis.

Meningioangiomatosis (MA) is an uncommon brain tumor. The role of imaging techniques is underscored in cases where the tumor location makes resection (or even biopsy) dangerous. We report the case of a child with an MA tumor located deep in the right sylvian fissure. A computed tomography (CT) scan showed calcifications in a highly vascular lesion with surrounding edema. Magnetic resonance spectroscopy (MRS) showed a distinct choline (Cho) peak, which usually suggests a proliferating tumor. Fluorodeoxyglucose positron emission tomography (FDG-PET) showed the lesion lacked hypermetabolic features. These radiological features should put MA in the differential diagnosis.