Harlequin ichthyosis unmasked: a defect of lipid transport.

[harlequin ichthyosis]

Harlequin ichthyosis (HI )--the most severe form of keratinizing disorders , often lethal in the neonatal period--is characterized by a profound thickening of the keratin skin layer , a dense "armor "-like scale that covers the body , and contraction abnormalities of the eyes , ears , and mouth . In this issue of the JCI , Akiyama et al . report that mutations in ABCA 12 caused defective lipid transport that significantly impacted normal development of the skin barrier . Lipid secretion was recovered after corrective ABCA 12 gene transfer into patient keratinocytes . These results should allow for early prenatal diagnosis of HI and lend hope to the possibility of a specific treatment for this devastating disorder .

Diseases
Validation

Diseases presenting "severe form" symptom

alpha-thalassemia

benign recurrent intrahepatic cholestasis

canavan disease

child syndrome

congenital adrenal hyperplasia

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

inclusion body myositis

kindler syndrome

lamellar ichthyosis

legionellosis

locked-in syndrome

megacystis-microcolon-intestinal hypoperistalsis syndrome

neonatal adrenoleukodystrophy

neuralgic amyotrophy

papillon-lefèvre syndrome

zellweger syndrome

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