Hereditary harlequin ichthyosis syndrome: Prenatal diagnostic challenge
DOI:
https://doi.org/10.35381/s.v.v8i1.3819Keywords:
Embryonic structures, prenatal care, prenatal diagnosis, (Source: DeCS)Abstract
Objective: to analyze hereditary harlequin ichthyosis syndrome: prenatal diagnostic challenge. Method: Descriptive documentary. Conclusion: HI, also known as diffuse fetal keratosis, is the most severe and devastating form of autosomal recessive congenital ichthyosis. It is due to mutations in the ABCA12 transporter, a cell membrane transporter associated with lipid transport. Fetuses carrying this mutation produce defective lipid secretion in epidermal keratinocytes, leading to a loss of the skin lipid barrier and the development of harlequin. The incidence of the disease is very low and there is no effective treatment. The probability of mortality of infants with HI is high, their prognosis is poor and most neonates die shortly after delivery due to infections, heat loss, dehydration, electrolyte disturbances or respiratory distress.
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