AIM OF THE STUDY:-To report a rare case of dermatological Anomaly that came across in an outpatient department of skin-.Namely –Collodion baby. PLACE AND PERIOD OF STUDY:-In outpatient Department of Dermatology in the Hospital of Kolar Districts during the year 2007 to 2010. MATERIAL AND METHODS: A case of Collodoin baby constituted the material for the present study. This case was examined in ...

INTRODUCTION The trigeminal autonomic cephalagias (TACs) are short-lasting unilateral headaches associated with autonomic features. Even if coexistence of different ipsilateral TACs in the same patient has been previously reported in few papers, the simultaneous occurrence of contralateral TACs is not described previously. CASE DESCRIPTION A 50 years old working man complained, at the end of ...

BACKGROUND The ichthyoses are rare genetic disorders associated with generalized scaling, erythema, and epidermal barrier impairment. Pathogenesis-based therapy is largely lacking because the underlying molecular basis is poorly understood. OBJECTIVE We sought to characterize molecularly cutaneous inflammation and its correlation with clinical and barrier characteristics. METHODS We analyze...

Pattern discrimination learning in functionally hemidecorticate rats leads to formation of memory traces in the intact hemisphere. The interhemispheric transfer (IHT) of such lateralized engrams is more efficient when the untrained eye rather than the trained eye is used during interdepression training (10 trials) preceding the retention test with the contralateral hemisphere, probably because ...

The stratum corneum of the skin serves as an effective barrier for maintenance of the internal milieu against the external environment. At the cell periphery of the stratum corneum is the cell envelope, a highly insoluble membranous structure composed of precursor proteins cross-linked by epsilon-(gamma-glutamyl)lysine bonds. Transglutaminase 1 (TGase 1; keratinocyte TGase), a membrane-bound is...

Harlequin ichthyosis is a rare and extremely severe form of congenital ichthyosis. The affected neonates usually do not survive beyond first few days after birth, but several long-term survivals have been noted. The inheritance is thought to be autosomal recessive. It has recently been shown that the vast majority of affected individuals are homozygous for mutations in the ABCA12 gene, which ca...

PURPOSE The aim of our investigation was to conduct a quantitative meta-analysis of the present world literature comparing the major surgical outcomes of penetrating keratoplasty (PKP) to lamellar procedures. Our goal is that clinicians, eye bank administrators, and health policy makers will be able to utilize this study in implementing decisions in regards to corneal transplantation. METHODS...

Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...

This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances considered to be typical of type II Gaucher disease. The baby died from respiratory fa...

Lamellar ichthyosis (LI) is an inherited autosomal recessive disorder of cornification. It was recently demonstrated to result from deleterious mutations in the transglutaminase 1 (TGM1) gene. However, the disease was shown to be genetically heterogeneous, since some families were found to be unlinked to TGM1. Homozygosity mapping on three consanguinous families originating from Morocco shows (...