Prenatal sonographic diagnosis of Harlequin ichthyosis

Brandão, Pedro; Seco, Sandra; Loureiro, T.; Ramalho, Carla

doi:10.1002/jcu.22675

Cited by 10 publications

(10 citation statements)

References 22 publications

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“…A recently published article presented 10 genetically confirmed cases of HI with prenatal sonographic features. Although eclabium, ectropion, and a flat nose were observed in more than half of the cases, the clubfeet sheen in our case were observed in only 3 of 10 cases [14]. These sonographic findings are notice-able after the mid-trimester, and are variable among patients [14]; therefore, the utility of fetal sonographic examination for prenatal detection of HI is thought to be limited.…”

Section: Discussioncontrasting

confidence: 56%

“…For more severe cases, ectropion, an absent nose, a large gaping open mouth, and swollen or abnormal position of the hands and feet could be observed by fetal ultrasonography [13]. Amniotic fluid containing excessive skin debris could be an additional prenatal finding of this disease [13,14]. A recently published article presented 10 genetically confirmed cases of HI with prenatal sonographic features.…”

Section: Discussionmentioning

confidence: 99%

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A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim

Shin

et al. 2019

J Genet Med

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Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is characterized by a typical appearance of generalized, thick, yellowish, hyperkeratotic plates with deep erythematous fissures on the skin. Herein, we present the case of a newborn girl with HI that was genetically confirmed by targeted gene panel analysis. The premature baby was encased in an opaque white membrane with erosion covering the skin of the entire body except the lips, with her hands and feet restricted by the membrane. Humidification, emollient, and retinoic acid treatment were started; the thick ichthyosis gradually peeled off and the underlying skin was only covered with thin scales. Targeted gene panel analysis using next-generation sequencing and validation with Sanger sequencing and quantitative polymerase chain reaction analyses confirmed compound heterozygous mutations of the ABCA12 gene (p.N1380S and a partial gene deletion encompassing exon 9). The parents were carriers for each of the identified mutations. Early recognition of the genetic etiology of congenital ichthyosis can, thus, facilitate genetic counseling for patients and their families.

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Section: Discussioncontrasting

confidence: 56%

Section: Discussionmentioning

confidence: 99%

A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim

Shin

et al. 2019

J Genet Med

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“…Early administration of systemic retinoids, in particular Acitretin, usually improves the clinical status 1,2 …”

Section: Discussionmentioning

confidence: 99%

Harlequin ichthyosis: A case image from Syria

Al-Dabbagh¹,

Daabool²,

Hatem³

et al. 2022

Clinical Case Reports

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“…This atypical conversion leads to the excessive production of filaggrin and the inability to form a strong keratin complex. Other severe irregularities entail the expression of keratin and the detection of keratohyalin granules, either regular or irregular [ 11 , 12 , 13 , 14 ].…”

Section: Introductionmentioning

confidence: 99%

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature

et al. 2022

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Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis. It is caused by mutations in the A12 cassette (lipid-transporter adenosine triphosphate-binding cassette A12). Neonates affected by this disease are born with specific morphological characteristics, the most prominent of which is the appearance of platelet keratotic scales separated by erythematous fissures. The facial features include eclabium, ectropion, a distinct flattened nose, and dysplastic ears. A common finding among those with HI is impaired skin barrier function. The purpose of the present narrative review is to assess the most recent literature regarding the management of HI. Emphasis is given to surgical management and consultation, to the indications for timing and surgical intervention, to the risks that are presented with surgery, and to the details of the surgical procedure itself. Management of HI requires a multidisciplinary team of experts, and specific guidelines are needed in order for the risks to be minimized and viability to be increased.

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Prenatal sonographic diagnosis of Harlequin ichthyosis

Cited by 10 publications

References 22 publications

A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Harlequin ichthyosis: A case image from Syria

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature

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