A rare case of PAPASH syndrome with a NOD2 mutation

Yaelle Shaked; Anika Pulumati; Alison H. Kucharik; Kayla Fourzali; Catherine Nicole Hawkins; Meredith Thomley

doi:10.1016/j.jdcr.2026.04.032

April 23, 2026JAAD Case ReportsOpen Access

A rare case of PAPASH syndrome with a NOD2 mutation

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Key Points

Document the clinical presentation and diagnostic progression of PAPASH syndrome associated with a NOD2 gene mutation in an adult patient.
Evaluated a 40-year-old female presenting with a non-healing, purulent left foot ulcer following minor trauma.
Performed an incision, drainage, wound washout, and a left foot bone biopsy during inpatient admission.
Conducted dermatologic assessment for pyoderma gangrenosum given worsening ulcerations alongside pre-existing seronegative arthritis and hidradenitis suppurativa.
Surgical intervention failed to promote wound resolution, resulting in progressive local tissue breakdown.
Multiple distant cutaneous ulcerations developed, confirming phenotypic features of pyoderma gangrenosum within the spectrum of PAPASH syndrome.

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Implication

Case report reveals PAPASH syndrome with a NOD2 mutation in a patient with severe cutaneous ulcerations, highlighting the challenge of diagnosing complex autoinflammatory diseases.

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Cite This Study

Shaked et al. (2026) studied this question.

synapsesocial.com/papers/6a761a350327049ca48c594c https://doi.org/10.1016/j.jdcr.2026.04.032

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A rare case of PAPASH syndrome with a NOD2 mutation

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Implication

Discussion

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A rare case of PAPASH syndrome with a NOD2 mutation

Key Points

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Implication

Discussion

Cite This Study

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