(BMJ)—A 29-yo woman presented w/ leg weakness and malaise x1wk w/ blistering on face, chest, and hands x5mo. PMHx: recurrent abdominal pain and vomiting w/o a confirmed dx; bipolar disorder; bulimia. Meds: sodium valproate. Exam: multiple angulated erosions on face and upper chest; single large irregularly shaped tense bulla on dorsum of R hand; scarring and milia at sites of previous blisters. CRP and autoimmune screen negative. CXR: normal. ECG: sinus tachycardia. What is the dx?
Dermatitis artefacta
Pseudoporphyria
Epidermolysis bullosa acquisita
Systemic lupus erythematosus
Variegate porphyria
You are correct. Variegate porphyria was confirmed by the presence of plasma porphyrins. Variegate porphyria blisters typically heal w/ milia and scarring as seen in this pt. The dz is assoc w/ systemic sx such as recurrent abdominal and back pain, vomiting, malaise, and leg weakness. Pseudoporphyria has similar lesions, but a porphyrin screen would be negative; the condition results from a phototoxic reaction in the skin, often assoc w/ a drug. Dermatitis artefacta develops following self-trauma. However, lesions confined only to exposed surfaces would be unusual. Epidermolysis bullosa acquisita presents w/ tense blisters, scarring, and milia at sites of minor trauma, and commonly affects the dorsal surfaces of the hands; the face would be an unusual site. The negative immunology screen and normal inflammatory markers make SLE unlikely. Sodium valproate, which is porphyrinogenic and might have contributed to the pt’s sx, was stopped. She was stabilized and referred to psychiatry for her eating disorder and to a regional porphyria clinic.

BMJ 2017;357:j1489