Supplementary Material for: Nail Changes in Congenital Insensitivity to Pain with Anhidros

This supplementary medical material details a case report of two brothers diagnosed with Congenital Insensitivity to Pain with Anhidrosis (CIPA). The report highlights specific nail abnormalities and associated clinical findings, linking them to a novel homozygous NTRK1 gene deletion. It serves as a diagnostic reference for identifying CIPA through its distinctive physical manifestations.

Use Cases

• Diagnostic reference for identifying CIPA based on described nail abnormalities (dystrophy, brachyonychia, anonychia)
• Clinical education on the systemic features of CIPA, including insensitivity to pain, anhidrosis, and acro-osteolysis
• Genetic research correlation linking phenotypic nail changes to specific NTRK1 gene mutations

Strengths

• Provides detailed clinical observations from a specific case study, including a novel genetic finding
• Released under a permissive CC-BY-4.0 license, facilitating reuse and sharing
• Cross-platform presence on figshare indicates established dissemination

Limitations

• Dataset structure is undefined; columns and row counts are not provided, limiting machine-readability
• Contains a single case report, offering limited statistical power or generalizability
• The 'last updated' date of 2026-03 24 appears to be a future date, indicating a potential metadata error

Provenance

Source

figshare admin karger

Collection Method

Clinical case report and genetic analysis.

Time Range

Case report period not specified.

Freshness

2026-03-24 04:55:21

Geography

Patient location not specified.