Chilblain Lupus - A rare form of cutaneous lupus erithematosus. A case report
Chilblain Lupus Erythematosus (CHLE) is a rare form of Chronic Cutaneous lupus erythematosus exacerbated by cold, associating typical injuries of chronic lupus erythematosus (face and ears) with infiltrative purplish injuries, like pernio located on the dorsal and lateral aspect of fingers and toes, palms and plants, heel, occasionally on the tip of the nose, auricle, and rarely on the trunk.
CHLE appears during the cold and wet part of the year. In the specialty literature, sporadic cases were reported and familial autosomal dominant transmitted cases also, with mutation of TREX1 gene involvement. In sporadic CHLE, pathogenesis remain uncertain, 20% of the patients developing systemic lupus erithematosus (SLE).
We present a 39 years old woman case, hospitalized in Clinical Hospital for Dermatology Prof. Dr. Scarlat Longhin in September 2011 presenting cutaneous lesions suggesting the diagnosis of chronic cutaneous lupus erithematosus, diagnosis confirmed by hystopathological examination performed after biopsy. Treatment with Prednisone is setting up 35mg/day and Plaquenil 400 mg/day without significant improvement of the symptoms. In January 2012, the patient is hospitalized in the Dermatological Department of the Clinical Hospital V. Babes presenting worsening of the cutaneous lesions.
The clinical aspect of the lesions aggravated in the cold season, resistance to treatment and anamnestic and paraclinic data leading to the diagnostic of chilblain lupus/ sporadic form. Considering the gravity of the cutaneous lessions, the associated symptomatology and the resistance to treatment the patient has been investigated for a potential systemic disease in the Nephrology Clinic “Carol Davila”. Para clinic investigations in conjunction with clinical findings confirmed the diagnosis of systemic lupus erithematosus (ARA criteria). The resistance of the cutaneous lesions to Prednison and Plaquenil treatment required the association of Prednison with Cyclophosphamide.