A recent case study published in the Journal of Cutaneous Pathology has documented the first known instance of concurrent hidradenitis suppurativa (HS) and porokeratosis palmaris et plantaris disseminata (PPPD), both classified as autoinflammatory keratinization diseases, presenting unique challenges in treatment and management.
The study focused on a 52-year-old male patient with a decade-long history of painful nodules in the axillary and genital regions characteristic of HS, combined with a more recent two-year development of hyperkeratotic rashes indicative of PPPD. The case became particularly significant when squamous cell carcinoma developed within a porokeratosis lesion, marking the first reported occurrence of this combination.
Clinical Presentation and Treatment Challenges
The patient exhibited complex symptoms including interconnected sinus tracts with active drainage, scarring, and thick verrucous plaques across both typical HS sites and unusual locations such as the face and extremities. Initial treatment with adalimumab proved ineffective, necessitating its discontinuation after seven months.
The discovery of invasive squamous cell carcinoma within a porokeratosis lesion required immediate intervention through Mohs surgery. This complication underscored the potential severity of these overlapping conditions and the importance of vigilant monitoring.
Innovative Treatment Approach
Following the failure of conventional therapy, clinicians implemented an aggressive triplet therapy regimen combining:
- Infliximab
- Acitretin
- Dapsone
While dapsone was later discontinued due to anemia-related complications, the remaining treatment combination, along with the subsequent addition of deucravacitinib, led to notable improvements. After sixteen months of treatment, the patient showed reduced drainage from HS lesions and regression of hyperkeratotic plaques.
Implications for Future Research
This unprecedented case highlights several critical aspects of autoinflammatory keratinization diseases:
- The potential for complex disease interactions
- Limitations of current treatment protocols
- Need for personalized therapeutic approaches
- Importance of understanding genetic underpinnings
The case study authors emphasize that further research into disease pathogenesis and genetic factors is crucial for expanding treatment options for challenging cases. The occurrence of squamous cell carcinoma within this context also suggests the need for enhanced surveillance protocols in patients with overlapping autoinflammatory conditions.
Clinical Significance
The findings from this case study represent a significant contribution to the understanding of autoinflammatory keratinization diseases. The successful management of symptoms through a novel combination therapy approach provides valuable insights for clinicians dealing with similar complex cases.
The case also underscores the importance of maintaining a high index of suspicion for malignant transformation in chronic inflammatory conditions, particularly when traditional treatments prove ineffective. As the field continues to evolve, this case may serve as a reference point for developing more effective treatment strategies for patients with overlapping autoinflammatory keratinization diseases.
