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

Shahada, Omar; Kurdi, Ahmed M.; ahmadi, Duaa Al

doi:10.7759/cureus.23533

Cited by 4 publications

(5 citation statements)

References 6 publications

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“…It is characterized by thickened scaly plaques, which are usually separated by deep fissures. These plaques may involve the entire body from head to toe with sparing of the penis or skin folds and creases [ 6 ]. Less commonly, these cases may involve the entire body without sparing such as seen in our case.…”

Section: Discussionmentioning

confidence: 99%

The successful treatment of Lamellar Ichthyosis—a plastic surgeons perspective

Johnson

Mowatt

Scott

2023

Journal of Surgical Case Reports

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Congenital Ichthyosis represents a very rare group of congenital skin disorders characterized by some degree of scaling and thickening of the stratum corneum with skin inflammation. Severe forms such as Harlequin and Lamellar forms may present with limb and organ compromise, respectively. Patients with Lamellar subtype presents with severe ectropion which may lead to corneal ulceration, rupture and blindness. Treatment includes a multidisciplinary approach allowing for early intervention and treatment, which optimize the outcomes. The timing for intervention is not clearly defined in the literature. This is most likely due to a paucity in data due to the relative infrequency in these conditions. However, using principles similar to early treatment of ectropion in burnt patients may be employed. A case of Lamellar Ichthyosis that presented to our outpatient clinic which was successfully managed with early ectropion release and full thickness skin graft is discussed.

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Section: Discussionmentioning

confidence: 99%

The successful treatment of Lamellar Ichthyosis—a plastic surgeons perspective

Johnson

Mowatt

Scott

2023

Journal of Surgical Case Reports

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“…Systemic retinoids have been shown to not only help promote the shedding of hyperkeratotic plaques but may also improve both the digital and thoracic constrictions, leading to improved breathing and functional movement. Additionally, systemic retinoids have also been shown to decrease the risk of digital necrosis [ 1 , 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Neonates with HI have a reported 50% mortality rate, primarily due to a compromised skin barrier, resulting in dehydration, electrolyte imbalances, thermodysregulation, and a high risk of sepsis. In addition, the presence of thick hyperkeratotic plaques may limit chest expansion, thereby potentially increasing the risk of respiratory failure and contributing to the high mortality rate [1,3]. HI has traditionally been thought to be difficult to treat, as there are no treatments currently available that are approved by the Food and Drug Administration (FDA).…”

Section: Introductionmentioning

confidence: 99%

Assessing the Use of Ustekinumab in a Pediatric Patient With Harlequin Ichthyosis

Almuhanna¹,

Alasmari²,

Alhamazani³

et al. 2023

Cureus

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Harlequin ichthyosis (HI) is a rare, life-threatening genodermatosis that is characterized by thick, scaly, hyperkeratotic plaques throughout the skin and is typically associated with severe ectropion, eclabium, flexion contractures, and dysplastic ears. HI is thought to be caused by a loss-of-function mutation in the ABCA12 gene. It has traditionally been thought to be difficult to treat, as there are currently no treatments available that are approved by the Food and Drug Administration (FDA). We present a case of a 15-year-old boy with HI and a complex medical history who was treated with a trial of off-label ustekinumab. There was an initial mild improvement in his erythema within one month of treatment, but by his one-year follow-up, ustekinumab had failed to produce a significant treatment response and was, thus, discontinued from his regimen. This case report highlights that although ustekinumab may be a viable treatment option for other ichthyotic entities, more research is needed to evaluate its clinical safety and efficacy in treating pediatric patients with HI.

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“…These deep and vividly red fissures enhanced the transcutaneous loss of water and heat, resulting in dehydration, electrolyte imbalances, and temperature instability [ 3 ]. Furthermore, newborns suffer from hypoglycemia, infections, sepsis, insufficient feeding habits, renal failure, and, more frequently, respiratory difficulties as a result of limited chest expansion and skeletal abnormalities, which can lead to death in the first few days of life [ 11 , 12 ]. All of these clinical symptoms were presented in the patient suggested the presence of HI.…”

Section: Discussionmentioning

confidence: 99%

A fatal case of Harlequin ichthyosis: Experience from low-resource setting

Vella,

Maulida,

Earlia

et al. 2023

Narra J

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Harlequin ichthyosis is a severe and fatal presentation of ichthyosis with an autosomal recessive inheritance. Infants with Harlequin ichthyosis have a high mortality rate, and a dismal prognosis; therefore the majority of neonates die shortly after birth from infection, heat loss, dehydration, electrolytic imbalances, or respiratory distress. The aim of this case report was to present a fatal case of Harlequin ichthyosis with no family history of any inherited skin disorder. A 3-day-old baby was presented to the emergency room with congenital abnormalities at birth, fissured hyperkeratotic skin, and thick yellow plates of scales. The parents had no history of consanguineous marriage, no relevant past medical history, and no family history of the same condition. The patient was unwell, pulse 162 times/minute, respiratory rate 48 times/minute, and axillary temperature 36.9oC. APGAR score was 8 in the 1st minute and 9 in the 5th minute. Based on the typical clinical appearance, the patient was diagnosed with Harlequin ichthyosis. Due to a lack of facility, a mutation analysis was not carried out. The patient was then transferred to the neonatal intensive care unit (NICU) and treated in a humidified incubator and medicated with intravenous antibiotics (ampicillin sulbactam 125 mg/12 hour and gentamicin 13 mg/24 hour), topically fusidic acid and mild emollients. A central venous catheter was used for intravenous access. The poor prognosis resulted in the patient dying at the age of 5-day-old. This case highlights that prenatal diagnosis is critical for early detection and disease prevention. Mutation screening for the ABCA12 gene is suggested for consanguinity marriages and with a history of ichthyosis.

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

Cited by 4 publications

References 6 publications

The successful treatment of Lamellar Ichthyosis—a plastic surgeons perspective

The successful treatment of Lamellar Ichthyosis—a plastic surgeons perspective

Assessing the Use of Ustekinumab in a Pediatric Patient With Harlequin Ichthyosis

A fatal case of Harlequin ichthyosis: Experience from low-resource setting

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