M ost statistics on the incidence of hereditary ichthyosis are acknowledged as best-guess estimates. The exceptions are population-based studies for the prevalence of steroid sulfatase deficiency (xlinked ichthyosis) and mutations in filaggrin (ichthyosis vulgaris). We wondered whether the unique International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code for...

harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of dna-based prenatal diagnosis. here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (art). in this case, the diagnosis of harlequin ichthyosis was n...

IN the complete form of this familial syndrome males suffer from corneal dystrophy, congenital ichthyosis (ichthyosis simplex), and allergic manifestations such as asthma and hay fever. The complete syndrome was noted in two patients. Other male members had corneal dystrophy and allergy, corneal dystrophy and ichthyosis, ichthyosis alone, ichthyosis and allergy, or asthma (Fig. 1). Except for t...

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 ...

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...

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...

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...