Diffuse palmoplantar keratoderma

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Diffuse palmoplantar keratoderma with painful fissures

ORPHA:369999Disease

What it is

A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.

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 0018250OMIM 148700UMLS C4755309

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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