Pachyonychia congenita type 2 (PC-2; Jackson-Lawler syndrome) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, mild focal keratoderma, multiple pilosebaceous cysts and other features of ectodermal dysplasia. Keratin 17 (K17) is a differentiation-specific keratin expressed in the nail bed, hair follicle, sebaceous gland and other epidermal appendages. Previously, w...

atrial septal defect (asd) is a common congenital anomaly that has low surgical mortality and morbidity. we report a very rare case of a low-lying asd, combined with the drainage of the inferior vena cava and the left superior vena cava into the left atrium. this combination was associated with an unroofed coronary sinus. we also describe an iatrogenic surgical diversion of the inferior vena ca...

background the most common space occupying lesions of the fetal thorax are congenital diaphragmatic hernia (cdh), congenital cystic adenomatoid malformation (ccam), and bronchopulmonary sequestration (bps). although applications of prenatal mri have been vastly improved in the recent years, its use in the assessment of space occupying lesions of the fetal chest differs among centers. objectives...

Congenital methemoglobinemia is a rare cause of cyanosis. We report a case of a girl, 17 years old with peripheral cyanosis and normal cardio-pulmonary system. She was diagnosed as a case of methemoglobinemia based on findings of polycythemia and HbM band on hemoglobin electrophoresis. We emphasize the importance of this rare entity in the differential diagnosis of cyanosis.

the most common congenital diseases in children is congenital heart disease. factors such as environment, genetic, old maternal age during pregnancy, maternal disease and using medicine in pregnancy, prematuritiy, and specific seasons are significant in the prevalence of disease.materials and methods: a cross sectional study was conducted to investigate the status of children with congenital he...

Keratins are the intermediate filament proteins specifically expressed by epithelial cells. The Human Genome Project has uncovered a total of 54 functional keratin genes that are differentially expressed in specific epithelial structures of the body, many of which involve the epidermis and its appendages. Pachyonychia congenita (PC) is a group of autosomal dominant genodermatoses affecting the ...