Related Experiment Videos
Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study
V P Sybert1, B A Dale, K A Holbrook
1Department of Pediatrics, University of Washington School of Medicine, Seattle.
Journal of the American Academy of Dermatology
|January 1, 1988
Summary
Hereditary palmoplantar keratodermas are a group of skin disorders. A new autosomal dominant condition showed significant clinical improvement with oral isotretinoin treatment.
Area of Science:
- Dermatology
- Genetics
- Biochemistry
Background:
- Hereditary palmoplantar keratodermas (PPK) encompass diverse genetic disorders causing palm and sole hyperkeratosis.
- These conditions are classified by clinical features, associated anomalies, and inheritance patterns.
Observation:
- A novel autosomal dominant PPK variant presented with features resembling mal de Meleda and Greither's disease.
- Biochemical analysis revealed hyperproliferative epithelium and 48-kd keratin expression.
- Ultrastructural examination showed reduced, but persistent, abnormal keratohyaline aggregations despite treatment.
Findings:
- Oral isotretinoin treatment led to marked clinical improvement in the affected family members.
- The degree of clinical improvement directly correlated with the administered isotretinoin dosage.
Implications:
- This study identifies a new form of hereditary palmoplantar keratoderma.
- Isotretinoin demonstrates therapeutic efficacy for this specific keratoderma subtype.
- Understanding the biochemical and ultrastructural changes offers insights into keratinization disorders.