Basidiobolomycosis: Case series.

BACKGROUND: Basidiobolus ranarum is a fungus found in the dung of amphibians, reptiles and insectivorous bats. Basidiobolomycosis is a chronic subcutaneous infection of the trunk and limbs caused by B. ranarum. The disease is a well-known infection in the tropical areas. It usually presents with subcutaneous or gastrointestinal lesions and rarely with systemic affection. Recently, the etiologic role of B. ranarum in the gastrointestinal infections has been increasingly recognized. PATIENTS AND METHODS: Here, we retrospectively reviewed the records of five patients with basidiobolomycosis, all from the same geographic region (Tohama area, Aseer province, southern region of the Kingdom of Saudi Arabia). RESULTS: All the cases presented with prolonged fever and other manifestations suggestive of either chronic infection (such as tuberculosis) or malignancies (such as lymphoma). The diagnosis of gastrointestinal basidiobolomycosis was established on histolological ground (granulomatous reaction, dense infiltrate of eosinophils and fungal structures). One case was diagnosed based on the histological features combined with positive tissue culture for B. ranarum. One case was treated by surgical resection of fungal masses (Case I), followed by itraconazole and amphoterecin-B therapy. The other four cases had non-resectable fungal masses and they responded very well for antifungal therapy (cases II, III, and IV received amphotericin-B and itraconazole and case V received amphotericin-B and voriconazole). CONCLUSIONS: Our study raises several notions. Gastrointestinal basidiobolomycosis is often misdiagnosed as cancer (lymphoma or carcinoma), tuberculosis or inflammatory bowel disease. Its recognition needs high index of suspicion and increased awareness especially in patients with chest, abdominal or neck masses and eosinophilia. The diagnosis of basidiobolomycosis can be established on histological basis in most cases. The fungal morphology and the Splendore-Hoeppli phenomenon are characteristic histological features of this condition. There are no prominent risk factors. Usually, surgery and prolonged antifungal therapy are required.

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.

Autoimmune polyendocrinopathy syndrome type 1 (APS1) is characterized by the presence of at least two out of three clinical features, which include Addison's disease, hypoparathyroidism, and chronic mucocutaneous candidiasis. This disorder is caused by mutations in the AIRE (autoimmune regulator) gene. While several AIRE mutations have been described in APS1 patients of various ethnic origins, the genetic cause of APS1 in Arab patients requires further investigation. This study describes seven Arab families, in which 18 patients had APS1. In addition to the cardinal features of APS1, some patients exhibited alopecia, diabetes mellitus, nephrocalcinosis and other phenotypes associated with APS1. DNA sequencing of the AIRE gene of patients from this study identified four novel and one recurrent mutation. These mutations likely result in loss of AIRE function in the patients. In addition, it was noted that the non-pathogenic c.834C> G mutation (rs1800520, encoding for p.Ser278Arg) occurs with high incidence in the AIRE gene of Arab individuals. Furthermore, this investigation demonstrates inflammation of the hair follicles in APS1 patients with alopecia universalis. We conclude that Arab APS1 patients carry novel and recurrent mutations in the AIRE gene.

Adult extrarenal Wilms' tumour: A case report and review of literature.

Whilst only fifteen cases of extrarenal Wilms' tumour (EWT) have been documented in adults, only two previous cases were located in the retroperitoneal space. We report a case of a 21-year-old Saudi female who presented with severe abdominal pain associated with a large solid tumour filling most of the left side of the abdomen and extending across the midline to the right side. Following surgical removal of this retroperitoneal mass, histopathological examination showed the classical features of Wilms' tumour. Both kidneys did not show any primary lesion. The local tumour recurrence responded to Wilms' tumour chemotherapy regimen. The literature on EWT is also reviewed, and the possible mechanism of histogenesis is discussed.