Figure 4.1
Scalp at initial presentation in March 2003
His co-morbidities included hypertension, hyperlipidemia, hypertriglyceridemia, obstructive sleep apnoea, gastro-oesophageal reflux, and lactose intolerance. In addition, his previous medical history included infection with herpes simplex type 2 and syphilis, an episode of viral pericarditis, recurrent bladder infections, and an appendicectomy.
His medications at the time of first assessment were: prednisolone (25 mg daily), omeprazole, lisinopril, frusemide, aldactone, a multivitamin and L-lysine.
Based on the clinical history and biopsy findings, what is your most likely diagnosis from the options below?
1.
Mucous membrane pemphigoid
2.
Bullous pemphigoid
3.
Linear IgA dermatosis
4.
Pemphigus vulgaris
5.
Bullous lupus erythematous
Diagnosis
Pemphigus Vulgaris
Further indirect immunofluorescence studies in April 2003 on monkey oesophagus, showed intercellular positivity for IgG. Desmolgein ELISA was not available at that time in Australia.
As he had already been commenced on prednisolone for 4 months, he had a baseline DEXA scan, which was normal. Nonetheless, he was also commenced on alendronate, calcium and vitamin D supplements due to the risk of osteoporosis caused by steroid treatment.
For treatment of his pemphigus vulgaris (PV), he was commenced on prednisolone 1 mg/kg/day, and azathioprine 50 mg daily initially. However, after several weeks of treatment with this regime, his skin lesions caused by PV became worse and he was experiencing intense pain. He was admitted to hospital and had daily baths, the azathioprine was ceased, and he was commenced on mycophenolate mofetil at 750 mg twice a day, and the prednisolone was increased to 100 mg twice a day. For his pain he was started on paracetamol and tramadol, but the tramadol was later ceased due to side effects and amitriptyline was introduced as an adjunct with paracetamol. Due to the high doses of prednisolone required to bring his disease under control, he became Cushingoid, and experienced severe mood swings and mania (which resulted in a large credit card debt). He was referred to a psychiatrist, who managed this with citalopram.
His PV eventually stabilized after 3 weeks in hospital and by May 2003 the prednisolone started to be weaned. He was noted to have slowly healing persistent lesions, which was treated with topical mometasone furoate 0.1 %. His prednisolone was gradually tapered over the following 4 months to 5 mg/day by November 2003, whence the alendronate was ceased (Fig. 4.2).
Figure 4.2
Scalp 9 months after commencement of treatment in January 2004
An indirect immunofluorescence serum titer on monkey oesophagus in January 2004 remained positive at 1:80. By March 2004 he was being maintained on 5 mg of prednisolone and mycophenolate mofetil 1,000 mg twice a day.
He had a persistent scalp erosion that was managed with betamethasone dipropionate 0.05 %, and triamcinalone (5 mg/cc) injections. By April 2005, the scalp lesion had completely healed, only for it to flare again in June 2005. This time, mometasone furoate 0.1 % solution along with a tar and salicyclic acid preparation was used to treat the scalp.
The prednisolone was finally discontinued in August 2006, with a stable disease state, and persistent erosions on the scalp and nose, and intermittently in the mouth. Mycophenolate mofetil was continued at 1,000 mg twice a day, a dexamethasone 2 mg mouthrinse was used to control the oral erosions, and mometasone furoate 0.1 % lotion was used topically to affected cutaneous sites twice a day.
Over the next 5 years, the mycophenolate mofetil was gradually titrated down to 250 mg twice a week. Follow-up indirect immunofluorescence in February 2011 revealed no circulating IgG and IgA autoantibodies detected on monkey oesophagus nor human salt split skin. ELISAs with recombinant desmoglein 1 and 3 antibodies were negative (<2 U/mL). This indicated no serological evidence of PV and the mycophenolate mofetil was finally ceased, such that he was in complete remission off therapy.
Discussion
PV is an autoimmune, acquired condition, that has a female preponderance and prevalent onset in the fifth decade of life [1, 2]. Evidence has linked the pathophysiology to autoantibodies against keratinocyte antigens desmoglein 3 and desmoglein 1, with a mucosal disease phenotype most commonly associated with autoantibodies to desmoglein 3, and a cutaneous phenotype associated with autoantibodies to desmoglein 1 [3, 4]. This phenotypic pattern was attributed to the anatomic differences in desmoglein 1 and 3 distribution between the cutaneous and mucosal epithelium. However, more recent evidence has suggested the pathophysiology in PV involves a more complex interplay between other antigens and non-desmoglein antibodies [5, 6]. Furthermore, the autoantibody titers against desmoglein 1 and 3 have been shown not to match the predicted phenotypic patterns [6]. Nonetheless, anti-desmoglein 1 and 3 antibody titers from an ELISA are still useful to guide treatment. However, it must be also be remembered that when treatment is commenced, the clinical manifestations of PV will improve earlier than these antibody titers [6]. This patient was unusual in that he had predominantly a cutaneous only phenotype with later onset of more oral mucosal involvement, and his desmoglein 1 and 3 ELISAs were negative, albeit later in the disease course.
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