AI-Provided Instant Differential Diagnosis of Pemphigus Vulgaris and Bullous Pemphigoid: Qualitative Study (Preprint)

BACKGROUND Pemphigus vulgaris (PV) and bullous pemphigoid (BP) are two rare but severe inflammatory dermatoses. Due to the regional lack of trained dermatologists, many patients with these two diseases are misdiagnosed and therefore incorrectly treated. An artificial intelligence diagnosis framework would be highly adaptable for the early diagnosis of these two diseases. OBJECTIVE Design and evaluate an artificial intelligence diagnosis framework for PV and BP. METHODS The work was conducted on a dermatological dataset consisting of 17,735 clinical images and 346 patient metadata of bullous dermatoses. A two-stage diagnosis framework was designed, where the first stage trained a clinical image classification model to classify bullous dermatoses from five common skin diseases and normal skin and the second stage developed a multimodal classification model of clinical images and patient metadata to further differentiate PV and BP. RESULTS The clinical image classification model and the multimodal classification model achieved an area under the receiver operating characteristic curve (AUROC) of 0.998 and 0.942, respectively. On the independent test set of 20 PV and 20 BP cases, our multimodal classification model (sensitivity: 0.85, specificity: 0.95) performed better than the average of 27 junior dermatologists (sensitivity: 0.68, specificity: 0.78) and comparable to the average of 69 senior dermatologists (sensitivity: 0.80, specificity: 0.87). CONCLUSIONS Our diagnosis framework based on clinical images and patient metadata achieved expert-level identification of PV and BP, and is potential to be an effective tool for dermatologists in remote areas in the early diagnosis of these two diseases.