Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal... IntroductionHarlequin ichthyosis (HI) is a rare genodermatological disease characterized by the defective formation of intercellular lipid layers, resulting in loss of barrier function, consequently leading to hyperkeratosis. The affected infants are typically born premature and are encased in a markedly thickened, hard stratum corneum. This thick casing cracks soon after birth, resulting in the formation of erythematous fissures separating thick, geometric plates of skin. This is accompanied by severe ectropion, eclabium, and flattened ears. On histological examination, characteristic abnormalities in the structure of lamellar granules and in the expression of epidermal keratin can be observed. In the past, an affected neonate would usually die within 2 days of birth owing to feeding problems, bacterial infections, and/or respiratory distress; however, a number of patients have been reported to have survived because of the availability of neonatal intensive care and benefits of oral retinoids. Other findings occurring with this disorder are alopecia, digital contractures, and growth delays. The hyperkeratotic covering is shed, leaving the skin erythematous and scaly. This latter presentation dominates for the remainder of the patient's life, leaving the skin barrier severely compromised, leading to an increased transepidermal water loss, hindered thermal regulation, and increased risk of secondary infection.HI is http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png International Journal of Dermatology Wiley

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
International Journal of Dermatology © 2018 International Society of Dermatology
ISSN
0011-9059
eISSN
1365-4632
D.O.I.
10.1111/ijd.13923
Publisher site
See Article on Publisher Site

Abstract

IntroductionHarlequin ichthyosis (HI) is a rare genodermatological disease characterized by the defective formation of intercellular lipid layers, resulting in loss of barrier function, consequently leading to hyperkeratosis. The affected infants are typically born premature and are encased in a markedly thickened, hard stratum corneum. This thick casing cracks soon after birth, resulting in the formation of erythematous fissures separating thick, geometric plates of skin. This is accompanied by severe ectropion, eclabium, and flattened ears. On histological examination, characteristic abnormalities in the structure of lamellar granules and in the expression of epidermal keratin can be observed. In the past, an affected neonate would usually die within 2 days of birth owing to feeding problems, bacterial infections, and/or respiratory distress; however, a number of patients have been reported to have survived because of the availability of neonatal intensive care and benefits of oral retinoids. Other findings occurring with this disorder are alopecia, digital contractures, and growth delays. The hyperkeratotic covering is shed, leaving the skin erythematous and scaly. This latter presentation dominates for the remainder of the patient's life, leaving the skin barrier severely compromised, leading to an increased transepidermal water loss, hindered thermal regulation, and increased risk of secondary infection.HI is

Journal

International Journal of DermatologyWiley

Published: Jan 1, 2018

References

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