To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upper back), demonstrating site-specific differences in profiles. Additional samples were collected ...

sjogren-larsson syndrome (sls) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. we report a case of sjogren-larsson syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and mri findings such as seen in multiple sclerosis (ms). so this rare syndrome can be another differen...

Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis isdifficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenataldiagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology(ART). In this case, the diagnosis of harlequin ichthyosis was not ...

Traditionally Thymus linearis Benth. have been used for treatment of various diseases including hypertension. The present study was conducted to evaluate the hypotensive and antihypertensive effect of aqueous methanolic extract of aerial parts of Thymus linearis Benth. in normotensive and hypertensive rats. Acute and subchronic studies were also conducted. The aqueous methanolic extract produce...

Keratosis linearis with ichthyosis congenita and keratoderma (KLICK) is an autosomal recessive skin disorder associated with a single-nucleotide deletion in the 5'untranslated region of the proteasome maturation protein (POMP) gene. The deletion causes a relative switch in transcription start sites for POMP, predicted to decrease levels of POMP protein in terminally differentiated keratinocytes...

Ichthyosis is a heterogeneous group of hereditary or acquired skin disorders, characterized by increased stratum corneum production. Several systemic diseases and many drugs can occasionally cause acquired ichthyosis. We report a case of statin-induced ichthyosis in which the causality between statin and ichthyosis was found possible by using the Naranjo scale. A 79-year-old woman presented wit...

Netherton syndrome is a congenital ichthyosis associated with erythroderma, hair shaft defects, and atopic features. The mutations of the secretory serine protease inhibitor Kazal-type 5 gene have been identified in Netherton syndrome patients; however, the actual physiologic substrates of the serine protease inhibitor Kazal-type 5 proprotein are unknown, and how the genetic defects cause chara...

Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndr...

Genodermatoses Ichthyosis This hereditary condition is characterized by hyperkeratosis or hypertrophy of the horny layers of the skin which is dry and scaly and looks dirty (Fig. 1). Besides dominant, autosomal recessive, and sex-linked recessive forms, ichthyosis also occurs in the SjogrenLarsson syndrome (ichthyosis, spasticity, and oligophrenia) and in Refsum's syndrome, a disturbance of lip...