Harlequin Ichthyosis (Pathogenesis, Morphology, and Diagnosis)

hasan elraeid, Retaj (2020-03-11)

Ichthyosis are a family of 20 congenital diseases that produce a dense hyperkeratotic Epidermis Harlequin ichthyosis is the most serious and often lethal form of recessive congenital ichthyosis (1) Children born with this condition have a hard, yellowish, Thick skin that covers most of their bodies, skin forms large diamond-shaped plates, divided by deep cracks that restrict movement (2). And their showing a deep Erythematous cracks, especially on the trunk the constricting skin causes severe ectropion (Lower eyelid eversion) and eclabium (lip eversion).rudimentary ears with retro auricular old loss, and nasal hypoplasia and other clinical features in infant Include palmoplantar keratoderma, alopecia, and persistent ectropion and eclabium. (3) Often common are ophthalmological complications that include chronic conjunctivitis, keratitis of touch, squint, Approximately one-third of patients experience developmental delay in speech and language as well as fine and gross motor skills, and are more susceptible to infection due to the impaired skin barrier function.


Ichthyoses are a group of disorders marked by whitish, brown or dark-brown scales on the skin of almost the whole body. Harlequin ichthyosis (HI) is the most severe form. Neonatal death from HI was once common. Due to intensive neonatal care and, probably, to the early introduction of oral retinoids, Severe ABCA12 deficiency results in malformation of intercellular lipid layers in the cornified layers and leads to epidermal lipid barrier disruption. In HI patients, at least one mutation on each allele must be a truncation or deletion mutation to cause serious loss of ABCA12 function. Identification of the gene underlying HI has enabled DNA-based prenatal diagnosis for HI at the earlier stages of pregnancy with low risk. There are no curative treatments for HI, this report was undertaken with an objectives to review the mutation in (ABAC12) underline the severe congenital skin disease and to know the prenatal diagnosis of harlequin ichthyosis and to describe the pathomechanism of harlequin ichthyosis and the characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells.

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