Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.

Background: Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co-occurrence of two or more diseases.

Methods: We report here on a consanguineous Libyan family whose child was initially diagnosed as presenting Fanconi anemia (FA) with uncommon skeletal deformities.

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

Background And Aims: Allgrove syndrome is characterized by achalasia, alacrima, and adrenal insufficiency as well as being associated with progressive neurological signs. This is an autosomal recessive disorder due to mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes a protein of 546 amino acids, ALADIN.

New food from a potato somatic hybrid: nutritional equivalence and safety assessment by a feeding study on rats.

Background: Potato tubers from the STBd somatic hybrid line that exhibited improved tolerance to salinity and resistance to fungal and PVY infections were characterised. They were compared for their chemical composition to the Spunta variety produced by conventional agronomic practices. This study aimed to compare nutritional value and safety by feeding rats with STBd or commercial tubers added to the standard diet (20/80 w/w).

Ciprofloxacin-induced crystal nephropathy.

Ciprofloxacin is a commonly used antibiotic. Renal side effects are rare and are usually immune mediated. Clinical and experimental studies have suggested that crystalluria and crystal nephropathy occur in alkaline urine.

A rare cause of Dysphagia in a pregnant woman:herpes simplex esophagitis.

Herpes simplex esophagitis (HSE) has rarely been reported in immunocompetent individuals. In a search of Medline until October 2012, we found only one case of HSE in a pregnant female. We present the first case of HSE in a healthy 36-year-old female at 27 weeks gestation who recovered without antiviral therapy.

[Lafora disease: histopathological study of axillary cutaneous biopsy].

Lafora body disease is a common and severe form of progressive myoclonic epilepsy. It is an autosomal recessive disorder with a gene locus recently mapped to chromosome 6q23-27. The disease presents between the age of 10 and 18 years with generalised seizures followed by myoclunus.

Letter: Intestinal heterotopia in urethral caruncle.

We report a case of urethral caruncle with intestinal heterotopia in a 26-year-old woman. This entity is rarely reported.

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of steroid biosynthesis in humans. More than 90% of all CAH cases are caused by mutations of the 21-hydroxylase gene (CYP21A2), and approximately 75% of the defective CYP21A2 genes are generated through an intergenic recombination with the neighboring CYP21A1P pseudogene. In this study, the CYP21A2 gene was genotyped in 50 patients in Tunisia with the clinical diagnosis of 21-hydroxylase deficiency.

Poor prognostic factors of lupus nephritis.

The occurrence of renal involvement during the clinical course of systemic lupus erythematous (SLE) is generally considered to be the most important factor influencing the prognosis in terms of morbidity and mortality. The factors influencing prognosis in lupus nephritis (LN) are variable in literature. Our aim was to determine predictive factors of poor prognosis in LN among our population.

[Abrikosoff's tumor: a clinicopathologic study of nine cases].

Background: Abrikossoff's tumour or granular cell tumor or is a benign neurogenic tumour. It is ubiquitous with the most frequently affected site is the head and neck region.

Aims: To report a series of granular cell tumors and to discuss its clinicopathologic features and histogenesis.

Mucinous tubular and spindle cell carcinoma of the kidney associated with tuberculosis.

Mucinous tubular and spindle cell carcinomas (MTSCC) are low-grade renal epi-thelial neoplasms with approximately 100 documented cases reported in the literature. We report a case of MTSCC in a 79-year-old patient in association with a renal tuberculosis infection that has never been reported. Further investigations are needed to determine the frequency and true prognosis of these tumors.

[Ewing sarcoma osseous and extraosseous : a clinicopathologic study of 29 cases].

Background: Ewing's sarcoma (ES) is a rare tumour accounting for 10% of primary malignant bone tumours in children and 3% of all childhood malignancies. ES belongs to a group of small round cell tumours.

Aim: In this review, we will describe the main clinicopathological features of this rare tumour and discuss its prognosis.

Correlation Between Immunohistochemical Biomarkers Expression and Prognosis of Ovarian Carcinomas in Tunisian Patients.

Background: Ovarian cancer is the leading cause of death from gynaecological malignancies. Newer biological prognostic factors and predictors of response to therapy are needed. Our study was designed to evaluate the expression of p53, Bcl-2, Estrogen receptor (ER) and Progesterone receptor (PR) in ovarian carcinoma and to compare it with other prognostic parameters such as age, FIGO stage, size of residual tumor, histological type and grade.

Aggressive nasal-type natural killer/T-cell lymphoma associated with Epstein Barr virus presenting as testicular tumor.

Background: Testicular lymphoma is a lethal disease with a median survival of approximately 12 to 24 months. Nasal-type natural killer/T-cell lymphoma of the testis is exceptional whether as a primary or secondary tumor.

Aim: The authors report on the comprehensive histopathologic, immunohistochemical and molecular analysis of a case of primary testicular nasal type NK/T cell lymphoma and review the features of previously reported cases.

[Cerebral gliosarcoma: clinico-pathologic study of 8 cases].

Background: Gliosarcomas are biphasic neoplasms composed of a glioblastoma admixed to a sarcomatous component with different lines of differentiation. Histogenesis of these tumors is still discussed.

Aim: Our objective is to specify clinical and pathological characteristics of this rare neoplasm and to discuss its histogenesis.

[Polymorphous low-grade adenocarcinoma: about two cases].

Background: Polymorphous low-grade adenocarcinoma (APBG) is a variant of malignant tumour of minor salivary glands usually arising in the palate.

Aim: Our aim is to discuss morphology, evolution and differential diagnosis of this rare tumour.

Case Reports: The first case interested a 65-year-old-woman admitted for a two-months-history of a right submaxillary swelling.