Yao syndrome: a novel systemic autoinflammatory disease with cutaneous manifestations.

Yao syndrome (YAOS) is a novel systemic autoinflammatory disease linked to the nucleotide-binding oligomerization domain (NOD2) gene. It is characterized by periodic fevers, gastrointestinal (GI) symptoms, arthritis, and dermatitis, among other symptoms. A sparse literature exists on this disease, and little is known about its dermatological manifestations. A review of available literature was performed to characterize the cutaneous manifestations of Yao syndrome. Cutaneous manifestations were documented in 85.7% of patients, with common characteristic descriptions of erythematous patches and plaques involving the face, trunk, abdomen, and extremities. Based on our review of treatment modalities employed for Yao syndrome, prednisone is an appropriate initial approach, with oral sulfasalazine and other disease-modifying antirheumatic drugs serving as appropriate secondary options. YAOS should be considered in the differential diagnosis of patients presenting with a dermatitic rash, especially in the context of concurrent articular symptoms, periodic fever, and GI symptoms.

Bullous Pemphigoid in a Centenarian Male Simulating Toxic Epidermal Necrolysis.

Bullous pemphigoid (BP) is one of the most common autoimmune blistering diseases and classically presents as large, tense bullae. We report a case of BP with toxic epidermal necrolysis (TEN)-like manifestations in a 103-year-old male, the oldest known patient to present with an acute onset of BP. Our patient presented with extensive erosive lesions comprising 12% of the total body surface area, raising suspicion of TEN and Staphylococcal scalded skin syndrome. Detailed clinical, histological, and immunofluorescence analyses were performed, confirming a diagnosis of BP. Atypical presentations of blistering disorders can be a diagnostic challenge and require the use of histologic and direct immunofluorescence testing to distinguish between clinically similar cutaneous diseases. Proper diagnosis is essential to ensure appropriate management and patient care.

Ophiasis Pattern Alopecia Areata in an Infant.

Alopecia areata (AA), an autoimmune inflammatory disorder causing non-scarring hair loss, predominantly affects the adult population and is rarely encountered in young infants and neonates. The etiology of this condition remains multifactorial, involving complex interactions between genetic, autoimmune, and environmental factors. In this report, we present a notable case of a four-month-old infant who presented with distinct band-like hair loss on the right inferior lateral forehead, left inferior lateral forehead, and superior middle forehead following a culturally significant head-shaving ritual known as Chudakarana. This unique presentation of ophiasis AA in an infant is an unusual occurrence and has been associated with a poor prognosis. The patient received topical treatment with triamcinolone 0.1% lotion, resulting in improvement of alopecia at the six-week follow-up, although complete resolution of symptoms was not achieved. This case highlights the significance of recognizing atypical presentations of AA in the pediatric population and underscores the complexities in associated cultural factors.

Certolizumab-induced liver injury: as assessed for causality by the updated RUCAM.

We report a case of a woman in her 30s with a history of cholecystectomy, hypertension, type 2 diabetes and rheumatoid arthritis on methotrexate and certolizumab who presented with epigastric pain radiating to the right upper quadrant. Laboratory findings revealed significantly elevated liver enzymes consistent with hepatocellular liver injury. The hepatocellular pattern of liver injury, negative autoimmune serologies and improvement on cessation of certolizumab were consistent with drug-induced hepatotoxicity. We used Roussel Uclaf Causality Assessment Method to assess the likelihood of drug-induced liver injury that showed a score of 7, this was in line with a probable causality grading. Although the patient had a history of methotrexate use, the onset of symptoms and transaminitis coincided with the recent initiation of certolizumab, which was the trigger of hepatocellular injury. Liver enzymes also remained normal after the reinitiation of methotrexate on follow-up.