Focal palmoplantar keratoderma

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Focal palmoplantar keratoderma with joint keratoses

ORPHA:370002Disease

What it is

A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant
Classified as
Disease

Gene

DSG1Disease-causing germline mutation(s)

ICD-10 codes

Q82.8filed under a broader ICD-10 category — shared with 106 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0018252OMIM 148700UMLS C4755302

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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