Harlequin Ichthyosis: Case Report

Couto, Patrícia Amaral; Pastore, Marcela C.; Araújo, Jessica C. N.; Mota, Cecilya M.; Chirano, Caroline Albuquerque Rodrigues; Ferreira, Valeria K. A.; Gadelha, Sidharta Quercia; Melo, Elaine Dias; Melo, Patricia Chicre Bandeira de; Santos, Luciana Mendes dos

doi:10.29021/spdv.77.1.984

“…In such cases, it is plausible that the disorder may be attributed to a novel dominant mutation (8). The subsequent pregnancy is associated with an approximate recurrence incidence of 25% (9). Within the scope of our study, two cases were found to have a family history.…”

Section: Discussionmentioning

confidence: 77%

Harlequin Ichthyosis: Case series

Ezveci,

Dogru,

Akkus

et al. 2024

Gynecol Obstet Reprod Med

0

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Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity. Prenatal DNA testing for the ABCA12 mutation aids in diagnosis. Although ultrasonography helps the diagnosis, the diagnostic value of a single ultrasound is low. It is fatal for the affected newborn after the first few days after birth, but few long-term survivals have been recorded. The hallmark of with disease is severely keratinized skin. This study aims to evaluate the prenatal and postnatal outcomes of cases with HI. Study Design: The study includes instances of HI that were diagnosed at the clinic throughout 2018–2023. The week of diagnosis, ultrasonographic findings, week of birth, and findings at the time of delivery for all patients were acquired via electronic reports and archival data. Data regarding the condition of viable fetuses was acquired using telephonic means. Results: The study included a total of five patients. There were prenatal ultrasonography findings in three cases. There were no prenatal ultrasound findings in the remaining two patients. Cordocentesis was applied to a single case using prenatal ultrasound diagnosis, and a normal genetic result was obtained. The remaining two cases refused to opt for the option of prenatal invasive testing. The termination option was not accepted in three cases with an intrauterine diagnosis. Prenatal ultrasonography revealed features showing skin thickening, ectropion, eclabion, oligohydramnios, and fetal growth restriction (FGR). Histological examination results of fetal skin biopsies in three cases showed consistent findings of epidermolytic HI, thus confirming the diagnosis of HI. The histological diagnosis of the remaining two patients was inconclusive. All cases are alive. Conclusion: It is advisable to conduct a methodical evaluation based on the clinical manifestations of the condition during the third trimester of gestation to diagnose HI, particularly in instances where there is no familial predisposition.

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“…The recurrence of this condition in the subsequent pregnancy is estimated to be 25%. 6 Hence, it is crucially important to counsel the parents regarding the genetic disorder and its probability of their next conception.…”

Section: Discussionmentioning

confidence: 99%

“…In our case, the young mother presented with obstetric pain and preterm premature rupture of the membrane as an obstetric emergency and cesarean delivery was performed. The recurrence of this condition in the subsequent pregnancy is estimated to be 25% 6 . Hence, it is crucially important to counsel the parents regarding the genetic disorder and its probability of their next conception.…”

Section: Discussionmentioning

confidence: 99%

Harlequin ichthyosis: A case report and literature review

Shrestha

¹

,

Biswas

²

,

Shrestha

³

et al. 2022

Clinical Case Reports

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show abstract

“…The recurrence of this condition in the subsequent pregnancy is estimated to be 25%. 6 Hence, it is crucially important to counsel the parents regarding the genetic disorder and its probability in their next conception.…”

Section: Discussionmentioning

confidence: 99%