ABSTRACT
Introduction and importance: PASH syndrome, is autoinflammatory condition driven by immune system dysfunction, resulting in elevated interleukin 1 levels and subsequent production of proinflammatory cytokines and chemokines. The clinical progression of PASH typically starts with acne conglobate in adolescence, followed by hidradenitis suppurativa, and pyoderma gangrenosum. Diagnosis relies on recognizing these hallmark features, but treatment remains a challenge despite current understanding. Conventional immunosuppressive therapies have shown limited efficacy in managing PASH syndrome. Case presentation: The authors present a 36-year-old man with a complex combination of pyoderma gangrenosum, acne, suppurative hidradenitis, obesity, and Crohn's disease. The patient's symptoms began in adolescence with acne and recurrent furuncles, evolving into painful skin ulcers and fistulas over time. Histological examination confirmed the diagnosis of pyoderma gangrenosum. Despite various treatment modalities, including isotretinoin, cyclosporine, azathioprine, and adalimumab, the patient experienced only partial improvement until receiving Infliximab, which led to remarkable improvement. Discussion: PASH syndrome, a rare neutrophilic dermatosis linked to autoinflammatory conditions like Braun Flaco, is characterized by Pyoderma gangrenosum, acne, and suppurative hidradenitis. This clinical entity presents diagnostic challenges due to its unique features and association with obesity and bowel diseases, such as Crohn's disease. Treatment options, including TNF-α blockers like Infliximab, have shown promising results in controlling cutaneous manifestations. Our case study underscores the complexity of treating PASH syndrome and highlights the importance of personalized therapeutic approaches for optimal outcomes. Conclusion: PASH syndrome presents significant diagnostic and treatment challenges due to its complex symptomatology and associations with conditions like Crohn's disease. The case of a 36-year-old man demonstrates the partial efficacy of conventional therapies and highlights the promising results of infliximab. This underscores the need for personalized treatment strategies and ongoing research to improve outcomes for patients with this rare and intricate syndrome.
ABSTRACT
Introduction: Pili annulati (PA) and trichorrhexis nodosa (TN) are rare genetic hair disorders. PA presents with sparkly, spotted hair due to air-filled cavities in the cortex, mainly affecting the scalp. TN causes brittle, breakable hair shafts, often due to physical or chemical damage. Case Presentation: A 23-year-old Syrian woman presented with glistening, brittle hair and whitish nodules since puberty, reminiscent of TN. Trichoscopy confirmed TN alongside PA, displaying characteristic dark-light bands. Interestingly, TN breakage occurred within the PA bands. Her aunt displayed similar TN patterns. Microscopy revealed ring-like structures and a 'thrust paint brush' appearance, indicative of TN, within PA-affected regions. Management included avoidance of hair treatments and prescription of vitamins and minoxidil to enhance hair strength and density. Discussion: PA is usually congenital and autosomal dominant, often without causing hair fragility. However, some cases report fragility, particularly in light bands. While PA is typically benign, its combination with TN underscores the complexity of hair shaft disorders. Only five such cases exist. Proposed causes for PA and TN include genetic factors and hair shaft abnormalities. PA's fragility may stem from band stiffness differences and lower cysteine content. Treatment is typically unnecessary, but avoiding excessive heat styling is advised. Conclusion: This case highlights the rare co-occurrence of PA and TN, emphasizing the need for further research into their relationship and potential systemic associations. Understanding the underlying mechanisms is crucial for informing treatment and counseling patients effectively, especially considering the rarity of this association.