... and formation of the intercellular lipid layer, ultimately influencing the epidermal barrier function. Harlequin ichthyosis (HI) is an inherited disease, which mainly affects the skin. HI is the most severe form of autosomal recessive congenital ichthyosis (ARCI), which includes HI, congenital ichthyosiform...

..., knees and elbows. Currently, he was on oral steroid therapy that had been prescribed to him by a general practitioner in his neighborhood. The father also reported that one of his siblings had a similar skin disease as himself. Harlequin ichthyosis is the most severe form of autosomal recessive...

... ichthyosis screening The autosomal recessive skin condition harlequin ichthyosis (HI) is the most severe and often lethal form of recessive congenital ichthyosis. ¹ Infants born with HI have hard, thick skin covering most of their body. This skin abnormality leads to ectropion (eyelids...

... 18390310). References 1 Akiyama M . Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms . J Dermatol Sci   2006 ; 42 : 83 – 9 . 2 Akiyama M , Dale BA , Smith LT  et al.   Regional difference...

...  et al.   Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis . Am J Hum Genet   2005 ; 76 : 794 – 803 . 3 Akiyama M , Sugiyama‐Nakagiri Y , Sakai K  et al.   Mutations in lipid transporter ABCA12 in harlequin ichthyosis...

... cells, which resembled the ultrastructural findings of harlequin ichthyosis (HI), although the HI phenotype was not present at birth. Some clinical features, such as thick scales, erythroderma, alopecia and ectropion were common to all patients. Ichthyosis was usually accentuated in the scalp and four...

... but as well in infection, atopy, immunodeficiency and some metabolic disorders. Common ichthyoses include Harlequin ichthyosis, lamellar ichthyosis, epidermolytic ichthyosis and X-linkedLinked ichthyosis. Important syndromes include Sjogren Larsson, trichothiodystrophy, CHILD syndrome and Gaucher Disease type...

... with fragile skin (blistering) and several with multisystem complications, such as Netherton syndrome. Salient features of each are reviewed with illustrations of selected cases and management is outlined. Two important neonatal presentations, collodion baby and harlequin ichthyosis, are described. dry...