Familial multiple discoid fibromas: unique histological features and therapeutic response to topical rapamycin.

Familial multiple discoid fibromas is a rare genodermatosis that bears some resemblance to Birt-Hogg-Dubé syndrome but is not associated with mutations in the folliculin (FLCN) gene or systemic manifestations. It is characterized by the development of papules over the face and pinnae early in life. Histological findings are of fibrovascular tumours adjacent to hair follicles without features characteristic of fibrofolliculomas, which have recently been termed discoid fibromas. We present siblings with multiple papules over the face and pinnae that developed in childhood. Histological specimens from both siblings demonstrated discoid fibromas, but with some lesions exhibiting an unusual keloidal-like pattern with thick hyalinized collagen fibres surrounded by plump spindle and histiocyte-like cells. FLCN gene mutations were not found. We report on clinical improvement with topical rapamycin solution (1 mg mL(-1)) applied daily to the face for 4 months. Therapeutic response to topical rapamycin may provide a clue to the underlying genetic basis of this condition.

Efficacy of mycophenolate mofetil in severe mucocutaneous lichen planus: a retrospective review of 10 patients.

BACKGROUND: Ulcerative lichen planus is an uncommon and severe subtype of lichen planus primarily affecting the oral mucosal surfaces. It may be associated with significant morbidity and often requires immunosuppressive therapy to achieve disease control. There have been no previous reports in which objective outcome measures have been used to assess the efficacy of mycophenolate mofetil (MMF) in severe ulcerative lichen planus. OBJECTIVE: To evaluate the clinical responses of patients with severe ulcerative oral lichen planus who were treated with MMF at a tertiary oral medicine/dermatology centre. METHODS: This was a retrospective review of oral disease severity scores performed in 10 patients with recalcitrant ulcerative oral lichen planus (vulvovaginal-gingival, n = 8; penogingival, n = 1; oral, n = 1) before and after treatment with MMF therapy. The results were analysed using the Wilcoxon matched pairs signed-rank test. RESULTS: The mean duration of MMF treatment was 3·7 (SD ± 2·4) years with a mean follow-up of 4·2 (SD ± 2·7) years. The mean baseline oral disease severity scores (39·1 ± 11·9) improved by 40% after 12-15 months (24·3 ± 11·9, n = 8, P = 0·01) and by 43% after 21-24 months of MMF treatment (22·2 ± 10·4, n = 9, P = 0·01). Of the 10 patients, six achieved remission, one had well-controlled disease and three had partially controlled disease. Two patients who achieved remission successfully discontinued treatment. MMF was well tolerated in all patients. CONCLUSION: Our case series demonstrates the efficacy and favourable side-effect profile of MMF in the treatment of severe ulcerative lichen planus.

Infliximab for the treatment of psoriasis in the U.K.: 9 years' experience of infusion reactions at a single centre.

BACKGROUND: Infliximab is an antitumour necrosis factor-α chimeric monoclonal antibody that is an established treatment for severe chronic plaque psoriasis. The recommended administration of a 2-h infusion followed by 2 h of monitoring is practised due to the potential occurrence of infusion reactions. However, accelerated infusions and shortened monitoring periods are used in patients with rheumatological disorders and inflammatory bowel disease without an increase in adverse events. OBJECTIVES: To review the standard infliximab infusion protocol, the incidence of acute infusion reactions, the use of concomitant methotrexate and the clinical relevance of the 2-h postinfusion monitoring period. METHODS: A retrospective case note and pharmacy database review of all infliximab infusions administered to patients with psoriasis at a tertiary dermatology centre was carried out. RESULTS: Fifty-nine consecutive patients received a total of 858 infliximab infusions (range 1-43 infusions per patient) between January 2001 and June 2010. The incidence of infusion reactions was 1.5%, affecting 16.9% of patients and occurring between the first and eleventh infusions. Mild, moderate and severe acute reactions occurred in 0.6% (n=5), 0.3% (n=3) and 0.3% (n=3) of infliximab infusions, respectively. Thirty-three patients (56%) received concomitant systemic treatments during part of or throughout the infliximab treatment, including 24 (41%) on methotrexate (5-20 mg weekly). The prevalence of infusion reactions in patients receiving infliximab alone was 27% compared with 4% in those receiving concomitant methotrexate (P=0.05). All infusion reactions were managed as per our trust protocol with only one infusion reaction occurring in the postinfusion period (10 min after infusion completion). CONCLUSION: The risk of infusion reactions in our cohort of patients was low, with the majority occurring early in the treatment cycle. Concomitant methotrexate may reduce this risk. A shortened postinfusion monitoring period can be safely considered.