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A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma
M Haftek1, F Cambazard, D Dhouailly
1INSERM U.346/CNRS, E. Herriot Hospital, Lyon, France.
Insights
This study followed a child with Harlequin ichthyosis treated with retinoids, whose condition evolved into a severe form of non-bullous congenital ichthyosiform erythroderma (NBCIE). Findings reveal persistent abnormalities, suggesting Harlequin ichthyosis may represent an extreme NBCIE variant.
Area of Science:
- Dermatology
- Genetics
- Cell Biology
Background:
- Harlequin ichthyosis is a severe congenital skin disorder.
- Non-bullous congenital ichthyosiform erythroderma (NBCIE) is a related ichthyosis subtype.
- Retinoid therapy can be crucial for Harlequin ichthyosis survival.
Observation:
- A Harlequin baby treated with retinoids evolved to present with clinical features of severe NBCIE.
- Ultrastructural and biochemical analyses indicated initial Type II Harlequin ichthyosis.
- Persistent abnormal keratinocyte hyperproliferation and defective filaggrin processing were observed.
Findings:
- The patient exhibited abnormal keratinosome structure and extrusion.
- A keratin pattern characteristic of epidermal hyperproliferation was noted.
- Absence of profilaggrin to filaggrin conversion persisted, alongside abnormal lamellar body production.
Implications:
- The findings suggest Type II Harlequin ichthyosis might be an extremely severe variant of NBCIE.
- Further research into epidermal lipids and keratinocyte transglutaminase gene mutations is warranted.
- Understanding these genetic and cellular defects is crucial for diagnosing and managing severe ichthyosis forms.
Abstract:
Over the past 8 years, we have followed a child born as a harlequin baby, who survived due to treatment with retinoids. His condition evolved clinically towards the erythrodermic form of lamellar ichthyosis (non-bullous congenital ichthyosiform erythroderma, NBCIE). According to ultrastructural and biochemical criteria, our patient originally presented with type II harlequin ichthyosis. Investigations showed an abnormal keratinosome structure and extrusion, a keratin pattern characteristic for epidermal hyperproliferation, and an absence of conversion of profilaggrin to filaggrin. Persisting keratinocyte hyperproliferation, associated with the presence of a dermal infiltrate, is in agreement with the present clinical picture of severe NBCIE. However, abnormal lamellar body production and defective filaggrin processing, which is not one of the diagnostic criteria of NBCIE, persist in the patient's skin. Further studies of the epidermal lipid composition, and of possible mutations of the keratinocyte transglutaminase gene performed on epidermal cell cultures of harlequin ichthyosis, will be necessary before type II harlequin ichthyosis can be accepted as an extremely severe form of NBCIE.
