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[Erythrokeratodermia progressiva symmetrica Darier-Gottron with generalized expression]
S Emmert1, W Küster, S Schauder
1Hautklinik und Poliklinik, Georg-August-Universität Göttingen.
Summary
Erythrokeratodermia progressiva symmetrica (EPS) can present with generalized skin involvement, mimicking ichthyosis. Systemic retinoids effectively treated both a child and his mother with this rare disorder of keratinization.
Area of Science:
- Dermatology
- Genetics
- Cell Biology
Background:
- Erythrokeratodermia progressiva symmetrica (EPS) is a rare disorder of keratinization.
- EPS typically presents as localized erythematous and hyperkeratotic plaques.
Observation:
- A mother and son presented with generalized EPS, exhibiting features similar to congenital lamellar ichthyosis.
- The son experienced rapid disease progression, while the mother had spontaneous regression.
- Clinical and ultrastructural findings included orthohyperkeratosis, parakeratosis, acanthosis, and specific changes in the stratum granulosum and spinosum.
Findings:
- Electron microscopy revealed numerous keratinosomes, intercellular lamellae, and altered keratohyalin and tonofilaments.
- Systemic retinoids led to significant improvement in the child and successful control in the mother.
- Differentiation between generalized EPS and other keratinization disorders can be challenging.
Implications:
- This case highlights the potential for generalized EPS and its resemblance to ichthyosis.
- Systemic retinoids show therapeutic potential for generalized EPS.
- Further research is needed to refine diagnostic criteria for differentiating EPS from other ichthyoses.