A case of congenital ichthiosis 1s presented. Histo­logic pattern and the treatment is discussed. 

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 ...

Ichthyosis is a heterogeneous cluster of keratinization disorders. Autosomal dominant ichthyosis vulgaris, the most common type, has an estimated incidence of 1 in 250 births, and X-linked recessive ichthyosis, the second most common form, has an incidence of 1 in 6000 male births. In addition, there are approximately 6.7 in 100,000 cases of moderate-to-severe ichthyosis. Congenital ichthyoses ...

Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. ...

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...

Introduction Mutations in the filaggrin ( FLG) gene are known to cause ichthyosis vulgaris. Methods We used whole-genome sequencing (WGS) technology investigate genetic causes of rare and complex inherited diseases including rheumatoid arthritis, ichthyosis, congenital fibrosis extraocular muscles type 1 (CFEOM1) a Chinese family. WGS was performed four topics, identified candidate mutations we...

Ichthyoses constitute a large group of cornification disorders that affect the entire integument. The skin is characterized by visible scaling and in many cases by inflammation, for example, in bullous/keratinopathic ichthyosis or Netherton syndrome. From the viewpoint of classification it is useful to distinguish non-syndromic from syndromic types of ichthyosis. Ichthyosis vulgaris and recessi...

BACKGROUND Bathing suit ichthyosis (BSI) and self-improving collodion ichthyosis (SICI) are 2 minor variants of generalized autosomal recessive congenital ichthyosis. Bathing suit ichthyosis is characterized by scaling of the skin in a bathing suit pattern, mainly limited to the trunk, whereas SICI is characterized by complete disappearance of the skin lesions. OBSERVATIONS We report genotypi...

The ABCA12 gene encodes an ATP-binding cassette transporter vital to skin barrier function. In keratinocytes, transports ceramides into the lumen of lamellar bodies as part widely conserved water system. Alterations in are associated with autosomal recessive congenital ichthyoses: harlequin ichthyosis, non-bullous ichthyosiform erythroderma, and ichthyosis. We report a 4-month-old female who pr...