Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.

[harlequin ichthyosis]

Recently , it has been reported that several harlequin ichthyosis (HI ) patients survive the neonatal period and their condition subsequently improves . Here we describe a 2 -year -old Japanese boy who exhibited typical clinical features of HI at birth . He survived beyond the neonatal period after oral retinoid treatment and , at the age of 2 years , showed moderately thick , lamellar scales and erythroderma over his whole body . The patient is a compound heterozygote for 2 ABCA 12 mutations , a paternal deletion mutation c .2021 _2022 del (p .Lys 674 ArgfsX 63 ) and a novel maternal nonsense mutation c .7444 C --> T (p .Arg 2482 X ). Electron microscopic observation of a skin biopsy specimen from the perinatal period revealed epidermal ultrastructural features consistent with HI . Immunofluorescence labeling using antiserum against a C-terminal ABCA 12 epitope showed loss of expression in the patient 's epidermis . The present patient demonstrates that rapid diagnosis of HI by ABCA 12 expression analysis and mutation detection , and early commencement of systemic retinoid therapy are crucial to significantly improving an HI patient 's prognosis .

Diseases
Validation

Diseases presenting "ichthyosis" symptom

child syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

harlequin ichthyosis

hirschsprung disease

junctional epidermolysis bullosa

kallmann syndrome

lamellar ichthyosis

This symptom has already been validated