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...

Exposure to contaminants other than petroleum hydrocarbons could confound interpretation of Exxon Valdez oil spill effects on biota at Prince William Sound, Alaska. Hence, we investigated polychlorinated biphenyls (PCBs) in blood of sea otters and harlequin ducks sampled during 1998. PCB concentrations characterized by lower chlorinated congeners were highest in sea otters from the unoiled area...

Harlequin syndrome, which is a rare disorder caused by dysfunction of the autonomic system, manifests as asymmetric facial flushing and sweating in response to heat, exercise, or emotional factors. The syndrome may be primary (idiopathic) with a benign course, or can occur secondary to structural abnormalities or iatrogenic factors. The precise mechanism underlying idiopathic harlequin syndrome...

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...

ro is the acquisition of protective barrier function in the skin a process involving differentiation of keratinocytes to form a stratum corneum of unique lipid composition and structure. Harlequin Ichthyosis (HI) is a severe hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein and which results in profound barrier defects. In keratinocytes ABCA12 is thought to regulat...

Homozygosity for Cst6 null alleles causes the phenotype of the ichq mouse, which is a model for human harlequin ichthyosis (OMIM 242500), a genetically heterogeneous group of keratinization disorders. Here we report evidence for the mechanism by which deficiency of the cysteine protease inhibitor cystatin M/E (the Cst6 gene product) leads to disturbed cornification, impaired barrier function an...

ro is the acquisition of protective barrier function in the skin a process involving differentiation of keratinocytes to form a stratum corneum of unique lipid composition and structure. Harlequin Ichthyosis (HI) is a severe hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein and which results in profound barrier defects. In keratinocytes ABCA12 is thought to regulat...

ro is the acquisition of protective barrier function in the skin a process involving differentiation of keratinocytes to form a stratum corneum of unique lipid composition and structure. Harlequin Ichthyosis (HI) is a severe hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein and which results in profound barrier defects. In keratinocytes ABCA12 is thought to regulat...

INTRODUCTION Ichthyosis is a group of keratinizing diseases characterized by scaly and dry skin. One of the ocular complications associated with ichthyosis is cicatricial ectropion which often results in exposure keratopathy and eventually corneal scarring. PRESENTATION OF CASE In this report we are presenting a 21-year-old female who is known to have ichthyosis-related bilateral lower lid ci...