The pat ient was a female neonate bor n prematurely on 36 weeks of gestation by normal vaginal delivery. During pregnancy, mother had no history of fever, drug use or x-ray exposure. The mother was gravida 2 and had no history of abortion. Her first baby was well. On physical examination, the skin was markedly thickened, hard and hyperkeratotic with deep crevices running transversely and vertic...

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...

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...

Harlequin Ichthyosis (HI) is a severe and often lethal hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein. In keratinocytes, ABCA12 is thought to regulate the transfer of lipids into small intracellular trafficking vesicles known as lamellar bodies. However, the nature and scope of this regulation remains unclear. As part of an original recessive mouse ENU mutagenes...

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...

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...

Congenital ichthyoses (CI), inherited scaling disorders, have an impaired epidermal barrier, but ceramide (Cer) changes are poorly understood. Using untargeted lipidomics, we compared Cer profiles of tape-stripped skin from 77 patients with 6 subtypes CI and 19 matched controls. In CI, 636 species were found, including 24 low-abundance Cers not in healthy skin. 221 significantly (>2-fold; adj. ...

 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 ichth...