dc.contributor.author | hasan elraeid, Retaj | |
dc.date.accessioned | 2020-09-28T10:28:17Z | |
dc.date.available | 2020-09-28T10:28:17Z | |
dc.date.issued | 2020-03-11 | |
dc.identifier.uri | http://repository.limu.edu.ly/handle/123456789/2016 | |
dc.description | 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. | en_US |
dc.description.abstract | 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. | en_US |
dc.language.iso | en | en_US |
dc.publisher | faculty of Basic Medical Science - Libyan International Medical University | en_US |
dc.rights | Attribution 3.0 United States | * |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
dc.title | Harlequin Ichthyosis (Pathogenesis, Morphology, and Diagnosis) | en_US |
dc.type | Other | en_US |