Related Experiment Videos
Collodion baby and lamellar ichthyosis
1Department of Dermatology & Syphilology, Wayne State University School of Medicine, Detroit, Michigan, USA.
Insights
Electron microscopy can differentiate severe collodion baby from harlequin ichthyosis at birth. The absence of the marginal band in stratum corneum cells indicates collodion baby, aiding early diagnosis.
Area of Science:
- Dermatology
- Genetics
- Histology
Background:
- Differentiating collodion baby and harlequin ichthyosis is crucial due to survival rates.
- Some infants present with overlapping features, complicating clinical diagnosis.
Observation:
- A case study of an infant initially presenting with harlequin-like features, evolving into lamellar ichthyosis.
- Serial electron microscopy (EM) of skin biopsy specimens was performed at 7, 14, and 150 days.
- Comparison with established cases of harlequin ichthyosis and lamellar ichthyosis was conducted.
Findings:
- The marginal band of stratum corneum cells was absent in the infant's initial presentation (collodion/harlequin-like).
- A well-formed marginal band was observed when the infant's condition evolved into lamellar ichthyosis.
- Key harlequin ichthyosis features like giant mitochondria were absent in this case.
Implications:
- Electron microscopy may offer a method to distinguish severe collodion baby from harlequin ichthyosis at birth.
- Absence of the marginal band via EM is a potential diagnostic marker for collodion baby.
- This study refines diagnostic criteria for severe ichthyosis subtypes.
Abstract:
It is important to differentiate the collodion baby from harlequin ichthyosis as the latter rarely survives past the first few days of life. Occasionally, babies share features of both disorders and defy a clinical diagnosis. We recently encountered such a baby who initially presented with harlequin-like features, but evolved into lamellar ichthyosis once the keratin cast was shed. Since the routine histology of all these ichthyoses is similar, we used electron microscopy to study serial biopsy specimens from the affected infant on days 7, 14, and 150, and compared them to our own other cases of harlequin ichthyosis and lamellar ichthyosis. Electron microscopic studies of our case revealed that the marginal band of cornified cells of the stratum corneum was absent when the baby exhibited collodion/harlequin ichthyosis features. Another biopsy taken when the clinical picture evolved into lamellar-like ichthyosis, showed a well-formed marginal band in the cornified cells. In harlequin ichthyosis, the marginal band is present at birth. It is suggested that electron microscopy can differentiate severe collodion baby from harlequin ichthyosis at birth using the absence of the marginal band. Previously reported features of harlequin ichthyosis, such as the presence of giant mitochondria and an abnormal formation of the marginal band in luminal villi of acrosyringeal eccrine duct, were absent in our case.