BACKGROUND Breast carcinoma is the second commonest cancer in women after non-melanoma skin cancers and, excluding melanoma, the most common tumor to metastasize to the skin in women. Cutaneous metastasis from breast cancer has varied presentations but there is no well-established classification which includes them all. OBJECTIVE AND CONCLUSION We report a 69 year-old lady with advanced prima...

The pancreaticobiliary ductal system connects the liver and pancreas to the intestine. It is composed of the hepatopancreatic ductal (HPD) system as well as the intrahepatic biliary ducts and the intrapancreatic ducts. Despite its physiological importance, the development of the pancreaticobiliary ductal system remains poorly understood. The SRY-related transcription factor SOX9 is expressed in...

Meckel syndrome (MKS) is a rare autosomal recessive disease causing perinatal lethality associated with a complex syndrome that includes occipital meningoencephalocele, hepatic biliary ductal plate malformation, postaxial polydactyly and polycystic kidneys. The gene mutated in type 1 MKS encodes a protein associated with the base of the cilium in vertebrates and nematodes. However, shRNA knockd...

Meckel syndrome (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation, and polydactyly. MKS is genetically heterogeneous and part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia. TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiolog...

CASE SUMMARY We describe the case of a 1-year-old male Persian cat diagnosed with congenital hepatic fibrosis (CHF) associated with renal polycystic disease and, for the first time, we have shown that there was no C >A mutation in exon 29 of PKD1 (polycystic kidney disease 1). The cat presented with a history of chronic weight loss, anorexia, vomiting, depression and lethargy, with profuse sali...

Meckel syndrome (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation and polydactyly. MKS is genetically heterogeneous and part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia. TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiology...

A 40-year-old male patient presented with distension of abdomen since last 4 years. The distension was progressive and more in upper abdomen. He also developed umbilical hernia since 1 year. There was no jaundice or bleeding. On examination, massive hepatomegaly till right iliac fossa with multiple nodular swellings was felt. The computed tomography of abdomen showed hepatomegaly of 36 cm in si...

bar pain and showed multiple small hepatic nodules in a previously asymptomatic 37-year-old woman. Liver function tests and tumor markers were normal. Magnetic resonance imaging (MRI) demonstrated multiple highly intense, regular nodules (less than 15 mm) with no communication to the bile tree (Fig. 1A). After intravenous gadolinium DTPA, some nodules showed peripheral enhancement from hepatic ...

Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD). It is a congenital disorder characterized by segmental saccular dilatations of the large intrahepatic bile duct and is frequently associated with congenital hepatic fibrosis (CHF). The most viable theory explaining its pathogenesis sugg...

Neonatal freeze lesions to the cortical plate result in focal malformations of the cerebral cortex that resemble four-layered microgyria. These malformations have been associated with local and distant changes in neuronal architecture, and have been implicated in the neocortical epileptiform discharges that can spread up to 4 mm away from the malformation itself. In an effort to assess potentia...