A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.

Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or hyper-immunoglobulin E syndrome. Although more than 80 NS-associated pathogenic mutations in the serine peptidase inhibitor kazal type 5 (SPINK5) gene have been reported worldwide, only one has been reported in the Arab population to date. We report the case of a novel association between the c.1887+1G>A mutation in the SPINK5 gene and NS in an Omani-Arab patient born in 2014 who was managed at a paediatric immunology clinic in Muscat, Oman. Accurate genetic diagnosis facilitated tailored clinical management of the index patient and enabled the provision of genetic counselling and offering of future reproductive options to the individuals related to the index patient.

Heterotopic pancreas in the stomach: a case report and a brief review of the literature.

CONTEXT: Heterotopic pancreas is the presence of pancreatic tissue found outside the usual anatomical location of the pancreas. It is a rare condition and can occur anywhere in the gastrointestinal tract with the stomach and the small bowel being the most common sites. It is usually asymptomatic and often discovered incidentally. CASE REPORT: We report the case of a 48-year-old Omani female who presented with recurrent epigastric pain. Endoscopy revealed a sessile mass in the antrum which was snared and showed heterotopic pancreatic tissue in the submucosa on histopathology. CONCLUSION: Heterotopic pancreas should be considered in the differential diagnosis of gastric mass lesions.

Cytological diagnosis of collagenous spherulosis of breast.

Collagenous spherulosis is a rare entity usually seen in association with benign breast lesions. It is often picked up incidentally with a reported incidence of about 0.2% in cytological material. There are very few reports describing cytomorphological features of collagenous spherulosis. To the best of our knowledge this is the only case reported from the middle-east region. The presence of hyaline spherules surrounded by a single layer of benign myoepithelial cells is the hallmark of collagenous spherulosis on FNA. However, due to close cytological resemblance, it can be misdiagnosed as adenoid cystic carcinoma of the breast. A 40-year-old woman presented with a history of a painless lump in the infraareolar region of left breast for a year. Fine needle aspiration was performed. The smears showed scanty cellularity comprising of cohesive clusters and a few branching fragments of benign ductal epithelial cells closely intermingled with many spherical, acellular homogenous hyaline globules. Few bare bipolar nuclei were noted in the background. A diagnosis of collagenous spherulosis associated with benign proliferative breast disease was made. Cytopathologists need to be aware of this entity in order to differentiate it from adenoid cystic carcinoma of the breast which requires radical treatment.

Bilateral pregnancy luteoma: a case report.

Pregnancy luteoma is a non-neoplastic lesion of the ovary occurring during pregnancy and is usually discovered incidentally at the time of a cesarean section or during postpartum tubal ligation. An accurate diagnosis is important for the mother and the fetus as it can be confused with ovarian malignancy leading to unnecessary surgery. We report a case of a pregnant female who was discovered to have bilateral enlarged ovaries at the time of emergency cesarean section.