Harlequin ichthyosis: A case image from Syria

Abstract

Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally. We report a harlequin fetus with a history of scalp psoriasis in his mother. The neonate was born to consanguineous parents who had a previous female baby that was diagnosed with harlequin ichthyosis.

Harlequin ichthyosis is an extremely rare genetic skin disorder that is associated with a high mortality rate. It is the most severe phenotype of congenital ichthyosis and affects both sexes equally.

1. CASE PRESENTATION

A 2.5 kg male baby was born via cesarean section to a 25‐year‐old female, Gravida 5 Para 3, at 37 weeks of gestation.

The parents are maternal first cousins who have only one healthy female child, and a prior history of a female baby who was diagnosed with harlequin ichthyosis. The parents have a common blood group type (O positive), and a common family history of diabetes. The mother has a history of scalp psoriasis.

At the time of birth, the entire body of the baby was covered with armor‐like scale plates with deep fissures that split the scales. The hands and feet were covered with thickened plate‐like encasement. Other evident features included severe bilateral ectropion, bilateral eclabium with a fixed‐open mouth, flattening of the nose, rudimentary external ears, partial hair loss on the scalp, and absence of eyelashes and eyebrows (Figures 1 and 2).

FIGURE 1.

On Day 1 of life, (A) the entire body is covered with armor‐like scale plates with deep fissures, (B) bilateral ectropion, eclabium, flat nose

FIGURE 2.

On Day 2 of life, (A) shedding of the thick plates and changing of their color to pale yellow, (B) partial hair loss on the scalp

Adequate nutrition, broad‐spectrum intravenous antibiotics, emollients, fluids, and electrolytes were performed.

A dermatology consultation was done, with advice to add Acitretin to the treatment plan.

Anyway, the baby succumbed on the sixth day of life without changing his treatment plan or receiving Acitretin.

2. DISCUSSION

Harlequin ichthyosis (HI) is a rare disorder, which is inherited in an autosomal recessive manner. It is caused by mutations in the ABCA12 gene. The disease incidence is 1 in 300,000 births.

The histological hallmarks include extensive hyperkeratosis in the stratum corneum and abnormal or absent lamellar bodies in the granular layer. HI is usually diagnosed clinically.

Prenatal three‐dimensional sonography and examination of amniotic fluid cells can confirm the diagnosis of HI. The management of HI neonates is complex and needs a multidisciplinary approach.

Early administration of systemic retinoids, in particular Acitretin, usually improves the clinical status.

Genetic counseling and genetic screening must be recommended to the parents. ^1,2

We would like to highlight whether there could be an association between HI baby and psoriasis as they are inherited disorders of keratinization, this relation may offer new research insights.

To the best of our knowledge, this is the first case of harlequin ichthyosis to be reported in Syria.

AUTHOR CONTRIBUTIONS

Jacob Al‐Dabbagh wrote and revised the manuscript, and involved in the literature search. Rajaa Daabool involved in the literature search. Reem Hatem and Lina Al‐Soufi supervised the case study. All authors read and approved the final manuscript.

CONFLICT OF INTEREST

The authors have no conflicts of interest to declare.

CONSENT

Written informed consent was obtained from the patient's parents to publish this report in accordance with the journal's patient consent policy.

ETHICAL APPROVAL

Not applicable.

Al‐Dabbagh J, Daabool R , Hatem R, Al‐Soufi L. Harlequin ichthyosis: A case image from Syria. Clin Case Rep. 2022;10:e06389. doi: 10.1002/ccr3.6389

DATA AVAILABILITY STATEMENT

All data are included in the case report.