Ichthyosis Congenita, Harlequin Type: A Fatal Case Report

Tahir, Amber; Tariq, Syed Maaz; Haider, Syed Ali; Hasan, Mohammad

doi:10.7759/cureus.3524

Cited by 10 publications

(13 citation statements)

References 8 publications

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“…The grotesque presentation of the fetus is usually enough to make a diagnosis. 7 In subsequent births, the rate of recurrence was more than 20 percent. HI was instantly diagnosed at birth due to its extreme clinical characteristics.…”

Section: Discussionmentioning

confidence: 98%

Postnatal diagnosis of harlequin ichthyosis a case report

Ahmed¹,

Mohamed²,

Abbas³

et al. 2021

IPCB

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Objective: Ichthyoses are cornification disorders in which irregular epidermal separation and desquamation result in a faulty epidermal membrane. Harlequin ichthyosis (HI) was a rare and extreme type that led to neonatal death. It was caused by mutations in the ABCA12 gene, and the inheritance pattern is autosomal recessive. Case report: We present a case of HI that was diagnosed postnatally by clinical review. Extreme ectropion, eclabium, flattened nose, and primitive ears were discovered in the fetus. As a result of HI complications, the fetus died. Conclusion: The presence of HI was linked to a poor prognosis and a high mortality rate. Prenatal ultrasound and genetic analysis were critical for prenatal diagnosis of HI, but genetic modalities were not available and were prohibitively costly, despite their utility in providing appropriate prenatal therapy to families with HI babies. This case was recorded because of its rarity, as well as to draw attention to the connection between.

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Section: Discussionmentioning

confidence: 98%

Postnatal diagnosis of harlequin ichthyosis a case report

Ahmed¹,

Mohamed²,

Abbas³

et al. 2021

IPCB

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“…A mutation in the lipid-transporter gene ABCA12 on chromosome 2 is the underlying genetic anomaly in harlequin ichthyosis. This gene is important for the transfer of lipids to epidermal cells and the appropriate development of the skin [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

Harlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia

Shahada¹,

Kurdi²,

ahmadi³

2022

Cureus

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Harlequin ichthyosis (HI) is an autosomal recessive disorder. It is a fatal disease and many infants born with HI die shortly after birth. The incidence is extremely rare and is reported to be about 1 in 300,000 births. The hallmark of the disease is alligator-like horned skin that is severely keratinized. Several cases of fetal HI have been reported, but to contribute to the collective knowledge of this rare severe skin disorder, we report the first case, from Medina, Saudi Arabia, of a 45-year-old woman who delivered a newborn infant with HI and has a previous history of six infants who died from a similar condition. Obtaining a prenatal diagnosis, in this case, is critical to alleviate the physical and mental suffering experienced by parents and relatives. Management is mainly supportive until now, as no curable therapy has been proven. Genetic counseling of the ABCA12 gene is advised in consanguinity marriage with positive family history.

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“…Electron microscopy may show atypical intraepidermal vesicles at 16 weeks. Amniocentesis at 17 weeks may show intracellular lipid vesicles in clump shed keratinocytes [3] . DNA-based prenatal testing by direct sequence analysis and restriction enzyme digestion analysis using fetal genomic DNA from amniotic fluid cells at 16 weeks gestation is also available for HI, and it is the investigation of choice for prenatal diagnosis of this condition.…”

Section: Discussionmentioning

confidence: 99%

Renuka, Nabapure Shilpa, PS Rashmi and Prabhudev Prema

Renuka¹,

Shilpa²,

Rashmi³

et al. 2019

Int. J. Clin. Obstet. Gynaecol.

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Harlequin Ichthyosis is the most severe form of congenital Ichthyosis presenting at birth. It is characterized by thick, fissured armor-plate hyperkeratosis, ears and nose deformities, ectropion, eclabium with fish mouth appearance, flexion deformities of all joints and hypoplastic digits. It is a very rare disorder with autosomal recessive inheritance. Perinatal mortality is high and the survivors develop severe erythroderma subsequently. We report a case of Harlequin Ichthyosis not only because of its rarity but also its tendency to occur in consecutive pregnancies. We recommend to have a genetic screening and counseling in all high risk couples e.g. consanguinity marriages as well as having more studies to diagnose and determine the best mode to deliver a baby with HI. Conclusion: Early diagnosis and genetic counseling of the parents is an important step in managing Harlequin Ichthyosis. We recommend to have a genetic screening and counseling in all high risk couples e.g. consanguinity marriages, and with family history of Harlequin icthyosis or previous child born with Harlequin icthyosis preimplantation genetic diagnosis can be done by screening for ABCA12 gene in both affected baby and parents.

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Ichthyosis Congenita, Harlequin Type: A Fatal Case Report

Cited by 10 publications

References 8 publications

Postnatal diagnosis of harlequin ichthyosis a case report

Postnatal diagnosis of harlequin ichthyosis a case report

Harlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia

Renuka, Nabapure Shilpa, PS Rashmi and Prabhudev Prema

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