Could "Islets of Sparing" Be a Clue for Neutral Lipid Storage Disease with Ichthyosis in Patients with Congenital Ichthyosiform Erythroderma?

The prevalent form of ichthyosis in neutral lipid storage disease (NLSDI) is nonbullous congenital ichthyosiform erythroderma (CIE) characterized by fine, whitish scales on erythematous skin over the whole body. Here, we report a late-diagnosed, 25-year-old woman with NLSDI presenting with diffuse erythema and fine whitish scales throughout the body with patches of apparently normal skin, "islets of sparing" on her lower extremities. We observed that the size of the normal skin islets changed with time, and even the entire lower extremity was covered with erythema and desquamation like the rest of the body. Frozen section histopathological examinations were made from lesional skin and normal-looking skin; no difference was observed in terms of lipid accumulation. The only noticeable difference was the thickness of the keratin layer. In CIE patients, observation of patches of apparently normal skin or "islets of sparing" might be a clue for NLSDI to be distinguished from other CIE conditions.

Extreme hypercalcemia in a kidney transplant recipient.

Post-transplant hypercalcemia is a major problem in renal transplant recipients, which may negatively affect both graft and patient survival. In this paper, we present a 66-year-old male kidney transplant recipient, who was admitted to our clinic with symptoms of fever, nausea, vomiting and lethargy. Laboratory data showed good renal function; however, a serum calcium level of 22.1 mg/dL. The patient was treated by isotonic saline together with furosemide and methylprednisolone. Because of treatment resistance, subcutaneous calcitonin and ibandronate were added to the treatment protocol as well. Since all these medications were not effective, hemodialysis with low-calcium (1.25 mmol/L) dialysate was applied for three consecutive days, which resulted in normalization of serum calcium. Several investigations were carried out for diagnosing the underlying etiology. Positron-emission tomography (PET)/CT revealed a strong diffuse uptake of FDG in the bones and spleen. A bone marrow biopsy showed diffuse interstitial infiltration of CD20 + neoplastic B cells and, thus, post transplant lymphoproliferative disease (PTLD) was diagnosed. Tacrolimus was switched to everolimus, mycophenolate mofetil was stopped, while treatment with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) was initiated. Despite all therapeutic interventions, the patient died of septic shock in the intensive care unit on the 10th day of emergency service admission. Importance of hemodialysis as an emergent treatment modality in extreme hypercalcemia, and unfavorable course of PTLD were underlined.

Simultaneous Presentation of Wilms' Tumor and Contralateral Ganglioneuroma in a Child: Case Report and Literature Review.

We demonstrate a 4-year-old girl who presented with progressive, asymmetrical, firm abdominal distention and was diagnosed with synchronous Wilms' tumor and left para-aortic ganglioneuroma (GN). Although synchronous tumors in the pediatric population are commonly associated with malignancy-predisposing syndromes, the patient in question was found to be otherwise healthy and had no clinical evidence nor family history of a syndrome. This case is the second one in the literature diagnosed with synchronous presentation of Wilms' tumor and GN in a previously healthy child. In addition, a GN foci presumed to be a previous metastasis of a neurogenic tumor that subsequently matured to GN was depicted within a left para-aortic lymph node. We aimed to emphasize an extremely rare synchronous occurrence of these embryonal tumors, increase the awareness of physicians, and discuss the radiologic differential diagnosis and management.