Familial classic Kaposi sarcoma in two siblings: case report and literature review.

BACKGROUND: Kaposi sarcoma (KS) is a cutaneous endothelial vascular proliferation with four subtypes: iatrogenic, acquired immune deficiency syndrome (AIDS) related, African, and classic. Familial cases of KS are rare, with 72 cases reported to date, and all were described with the classic variant. The occurrence of classic KS in the Jewish population is well documented, and most of the familial classic KS cases were also reported in Jewish families. OBJECTIVE: We briefly present the history, biopsies, laboratory data, diagnosis, and treatment of localized lower limb classic KS in two siblings of Jewish Eastern European ethnic descent with their response to different therapy modalities. One of our cases had the second longest reported period of follow-up for familial classic KS of 40 years.

Chromosome 3 anomalies investigated by genome wide SNP analysis of benign, low malignant potential and low grade ovarian serous tumours.

Ovarian carcinomas exhibit extensive heterogeneity, and their etiology remains unknown. Histological and genetic evidence has led to the proposal that low grade ovarian serous carcinomas (LGOSC) have a different etiology than high grade carcinomas (HGOSC), arising from serous tumours of low malignant potential (LMP). Common regions of chromosome (chr) 3 loss have been observed in all types of serous ovarian tumours, including benign, suggesting that these regions contain genes important in the development of all ovarian serous carcinomas. A high-density genome-wide genotyping bead array technology, which assayed >600,000 markers, was applied to a panel of serous benign and LMP tumours and a small set of LGOSC, to characterize somatic events associated with the most indolent forms of ovarian disease. The genomic patterns inferred were related to TP53, KRAS and BRAF mutations. An increasing frequency of genomic anomalies was observed with pathology of disease: 3/22 (13.6%) benign cases, 40/53 (75.5%) LMP cases and 10/11 (90.9%) LGOSC cases. Low frequencies of chr3 anomalies occurred in all tumour types. Runs of homozygosity were most commonly observed on chr3, with the 3p12-p11 candidate tumour suppressor region the most frequently homozygous region in the genome. An LMP harboured a homozygous deletion on chr6 which created a GOPC-ROS1 fusion gene, previously reported as oncogenic in other cancer types. Somatic TP53, KRAS and BRAF mutations were not observed in benign tumours. KRAS-mutation positive LMP cases displayed significantly more chromosomal aberrations than BRAF-mutation positive or KRAS and BRAF mutation negative cases. Gain of 12p, which harbours the KRAS gene, was particularly evident. A pathology review reclassified all TP53-mutation positive LGOSC cases, some of which acquired a HGOSC status. Taken together, our results support the view that LGOSC could arise from serous benign and LMP tumours, but does not exclude the possibility that HGOSC may derive from LMP tumours.

[Nephrogenic systemic fibrosis: more hard times for renal failure patients]. / La fibrose systémique néphrogénique: nouveau coup dur pour les insuffisants rénaux.

To date, more than 200 cases of nephrogenic systemic fibrosis have been documented worldwide. All patients have had renal failure, most of them requiring dialysis. We herein describe the course of a hemodialyzed patient who developed nephrogenic systemic fibrosis in the months following magnetic resonance angiography of the lower extremities. The disease is characterized by skin thickening and tendon fibrosis leading to joint contractures that can quickly confine the patient to a wheelchair. Systemic involvement may occur, leading to cardiomyopathy, pulmonary fibrosis, pulmonary hypertension or even death. No consistently effective therapy has been reported. An association between gadolinium exposure and the development of the disease has been found, although no causal link has yet been proven. In a patient with renal failure, magnetic resonance imaging with gadolinium enhancement should be done only after having seriously considered the risk/benefit ratio. Implications concerning the choice of imaging methods when searching for ischemic nephropathy or aorto-iliac disease before renal transplantation are discussed.

Perifolliculitis capitis abscedens et suffodiens in an 18-year-old Aboriginal Canadian patient: case report and review of the literature.

BACKGROUND: Perifolliculitis capitis abscedens et suffodiens (PCAS) is a suppurative process that involves the scalp, eventually resulting in extensive scarring and irreversible alopecia. This condition often presents in males of African American origin. OBJECTIVE: This article describes the clinical presentation, diagnosis, and treatment of an Aboriginal Canadian male suffering from PCAS. A literature review on the etiology, pathology, differential diagnosis, and management is also discussed. CONCLUSION: Careful analysis of the pathology and clinical presentation can aid in the timely diagnosis and management of this challenging condition. The clinician dealing with patients suffering from PCAS has several treatment options available to help successfully manage patients with straightforward or recalcitrant disease.

Classic Kaposi's sarcoma in the Inuit of northern Quebec.

BACKGROUND: Classic Kaposi's sarcoma (KS) is predominantly a disease of eastern Mediterranean and Ashkenazi Jewish elderly men. Nevertheless, the disease has been reported to occur in people from various other ethnic and regional backgrounds. OBJECTIVE: We report, for the first time, the occurrence of classic KS in five Inuit people living in northern Quebec, Canada. METHODS AND RESULTS: We describe the case of a 69-year-old Inuit man with classic KS, and report four other cases of KS in the Inuit population, identified by a review of our hospital's dermatopathology records. CONCLUSION: The discovery of classic KS in the Inuit population of northern Quebec brings with it new questions as to the origins of the KS-associated herpes virus in this population. It is our belief that the answers to these questions are in the genotype of the virus that is present in this community.

A case of penile melanoma illustrating the low sensitivity of frozen sections in the assessment of sentinel lymph nodes.

A 75 year-old uncircumcised man presented with a 1.1mm thick malignant melanoma on the ventral aspect of the glans penis. He underwent isosulfan blue and technetium 99m guided sentinel lymph node (SLN) biopsy and distal penectomy with 2 cm margins. This is the third reported case of penile melanoma using both markers for SLN mapping. While frozen sections and H& E stains were negative, S-100 and HMB-45 immunohistochemistry revealed micrometastasis in one of the sentinel nodes. This case illustrates that any discussion with the patient about management and prognosis should await immunohistochemistry results.

Purpura fulminans and anticardiolipin antibodies in a patient with Grave's disease.

We describe a patient with Grave's discase who developed purpura fulminans and who was found to have anticardiolipin antibodies after being started on propylthiouracil (PTU). We discuss the potential role of the antiphospholipid antibody in this woman's presentation, and its association to both PTU and autoimmune thyroid disease.