Harlequin ichthyosis in two siblings.

[harlequin ichthyosis]

Harlequin ichthyosis is a rare and extremely severe form of congenital ichthyosis . The affected neonates usually do not survive beyond first few days after birth , but several long -term survivals have been noted . The inheritance is thought to be autosomal recessive . It has recently been shown that the vast majority of affected individuals are homozygous for mutations in the ABCA 12 gene , which cause a deficiency of the epidermal lipid transporter and result in hyperkeratosis and abnormal barrier function . Prenatal diagnosis is possible . We report a case of a newborn with Harlequin ichthyosis , a product of consanguineous marriage , with a history of similar disease leading to early neonatal death previously in a sibling .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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