Pathomechanisms of Harlequin Ichthyosis and ABCA Transporters in Human Diseases

Akiyama, Masashi

doi:10.1001/archderm.142.7.914

Cited by 67 publications

(65 citation statements)

References 25 publications

(50 reference statements)

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“…2) [16,17]. Mutations in the lipid transporter protein, ABCA12 cause defective lipid secretion into lamellar granules which then become expelled from the apical surface of keratinocytes [6] as mentioned above and lead to either LI [5] and HI [6,18] phentoypes.…”

Section: Defective Intercellular Lipid Is the Main Idea Behind The Pamentioning

confidence: 99%

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Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

Akiyama

2006

Journal of Dermatological Science

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Section: Defective Intercellular Lipid Is the Main Idea Behind The Pamentioning

confidence: 99%

“…Among the severe ARCI, harlequin ichthyosis is the most devastating congenital ichthyosis and affected newborns show large, thick, plate-like scales over the whole body and severe ectropion, eclabium and flattened ears [17]. Type 2 LI is a subtype of LI which links to 2q33-35.…”

Section: Abca12 Deficiency In Harlequin Ichthyosis and Lamellar Ichthmentioning

confidence: 99%

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

Akiyama

2006

Journal of Dermatological Science

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“…ARCI comprises three major subtypes, harlequin ichthyosis (HI; MIM] 242500), congenital ichthyosiform erythroderma (CIE; MIM] 242100), and lamellar ichthyosis (LI; MIM]s 242300, 604777, 601277, 606545) . HI is the most devastating congenital ichthyosis, and affected newborns show large, thick, plate-like scales over the whole body with severe ectropion, eclabium, and flattened ears [Akiyama, 2006a]. Patients with CIE demonstrate fine, whitish scales on a background of erythematous skin over the whole body.…”

Section: Introductionmentioning

confidence: 99%

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

2010

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Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. To date, a total of 56 ABCA12 mutations have been reported in 66 ARCI families including 48 HI, 10 LI, and 8 CIE families of African, European, Pakistani/Indian, and Japanese origin (online database: http://www.derm-hokudai.jp/ABCA12/). A total of 62.5% of reported ABCA12 mutations are expected to lead to truncated proteins. Most mutations in HI are truncation mutations and homozygous or compound heterozygous truncation mutations always results in HI phenotype. In CIE families, at least one mutation on each allele is typically a missense mutation. Combinations of missense mutations in the first ATPbinding cassette of ABCA12 underlie the LI phenotype. ABCA12 is a keratinocyte lipid transporter associated with lipid transport in lamellar granules, and loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in an ichthyotic phenotype. Recent work using mouse models confirmed ABCA12 roles in skin barrier formation.

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“…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. Akiyama et al [21][22][23][24][25] report that mutations in ABCA12 caused defective lipid transport that significantly impacted normal development of the skin barrier. Lipid secretion was recovered after corrective ABCA12 gene transfer into patient keratinocytes.…”

Section: Discussionmentioning

confidence: 99%

Expecting the most unexpected – a harlequin baby! A case report and literature analysis

Srinivasan¹

2012

Our Dermatol Online

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Pathomechanisms of Harlequin Ichthyosis and ABCA Transporters in Human Diseases

Cited by 67 publications

References 25 publications

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

Expecting the most unexpected – a harlequin baby! A case report and literature analysis

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