遺伝性角化症（ダーリエ病）における爪の変化と併存疾患の網膜的解析

Darier disease (DD) is a rare genodermatosis associated with neuropsychiatric, cardiovascular, and metabolic disorders. Nail changes in DD are reported but understudied. We aimed to characterize nail changes and comorbidities in patients with DD to guide management.

We retrospectively reviewed 26 patients with DD at Weill Cornell (2010-2025), analyzing demographics, comorbidities, and clinical features. Fisher's exact tests assessed associations between comorbidities and clinical features (p < 0.05).

Ten patients (38.5%) had nail changes, including V-shaped nicking (19.2%) and "candy cane" nails (longitudinal erythronychia/leukonychia) (11.5%). Nail changes preceded skin changes in 20%. Nail examination was not documented in 26.9%. Skin symptoms included pruritus (30.8%), pain (23.1%), and burning sensation (19.2%). Comorbidities included cardiovascular disease (23.1%), neuropsychiatric disease (26.9%), neuropsychiatric medication use (15.4%), and diabetes/prediabetes (19.2%). Diabetes/prediabetes correlated with burning sensation (p = 0.034) and trended toward correlation with nail changes (p = 0.055).

Nail changes were common in patients with DD and the first sign of disease in 20%. Nail examination was lacking in >1/4 of patients, demonstrating an opportunity for education. Patients with DD had high prevalence of comorbidities and cutaneous symptoms. Therefore, active monitoring for symptoms including burning, pain, and pruritus is important, especially in patients with baseline comorbidities.