Related Experiment Videos
Hereditary painful callosities with associated features
1Istituto di Scienze Dermatologiche, IRCCS-Policlinico di Milano, Italia.
Dermatology (Basel, Switzerland)
|January 1, 1996
Summary
Hereditary painful callosities, an autosomal dominant disorder, presents as painful palmoplantar keratoderma. New associated acral abnormalities, including leukonychia and toe bone duplication, are described.
Area of Science:
- Genetics
- Dermatology
- Clinical Medicine
Background:
- Hereditary painful callosities (HPC) is an autosomal dominant genodermatosis.
- It is characterized by painful, coin-shaped (nummular) palmoplantar keratoderma over pressure points.
Observation:
- This report details two unrelated patients diagnosed with HPC.
- Both patients exhibited additional, previously undescribed familial acral abnormalities.
Findings:
- Subtotal congenital leukonychia (white nails) was observed in association with HPC.
- Symmetrical duplication of the great toe bones was also noted in these patients.
- These specific nail and bone abnormalities have not been previously reported with HPC.
Implications:
- This expands the known clinical spectrum of hereditary painful callosities.
- Highlights the importance of thorough examination for associated acral anomalies in patients with palmoplantar keratoderma.
- Suggests potential shared genetic or developmental pathways for these diverse acral manifestations.