Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident.

We describe a patient with overlapping clinical features of Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease with an absence of mutation in exon 3 of the CIAS1 / PYPAF1 / NALP3 gene. Myelodysplasia and cerebrovascular accident were additional features in this patient, which to our knowledge have not been previously described in association with these disorders. The urticarial rash, myelodysplasia and raised inflammatory markers responded to treatment with the interleukin-1 receptor antagonist, anakinra.

Immunoglobulins in alopecia areata.

Serum immunoglobulin levels (IgA, IgM, IgG) were measured by radial immunodiffusion in 57 subjects with varying degrees of alopecia areata. Both IgA and IgM fell with increasing severity of disease as judged by the area of scalp involved. IgM in subjects with extensive disease was significantly lower than that of an age- and sex-matched control group.

Pemphigus-like antibodies: a report of two cases.

Two patients with high titres of circulating intercellular antibodies are described. One had bullous mycosis fungoides and the other had bullous impetigo. In each case, as the underlying disease responded to treatment, the titre of antibodies fell.

Porphyria cutanea tarda in association with the human immunodeficiency virus infection.

A 42 year old heterosexual male with symptomatic human immunodeficiency virus infection presented with a 2-week history of tense blistering skin lesions following azidothymidine therapy. Urinary porphyrin excretion confirmed the diagnosis of porphyria cutanea tarda. The blisters resolved following the withdrawal of the drug but recurred when rechallenged. Three other cases of porphyria cutanea tarda, not associated with azidothymidine, who subsequently developed acquired immunodeficiency syndrome have recently been described. If azidothymidine is not the precipitating agent, it is possible that human immunodeficiency virus itself can impair porphyrin metabolism, leading to the clinical and biochemical features of porphyria cutanea tarda.

Hypertrichosis as the presenting feature of porphyria cutanea tarda.

We report a case of porphyria cutanea tarda in which the only cutaneous abnormality and initial presenting complaint was hypertrichosis. The patient had a history of excessive alcohol consumption. Alcohol avoidance and treatment with low-dose hydroxychloroquine resulted in resolution of the hypertrichosis and normalization of biochemical abnormalities.

Plasma porphyrins in chronic renal failure.

Using a quantitative sensitive HPLC fluorometric assay for the measurement of plasma and urine porphyrins, we have calculated the renal clearance of uro- and coproporphyrin in normal volunteers and in patients with congenital erythropoietic porphyria and hereditary coproporphyria (HCP). In patients with porphyria cutanea tarda (PCT), only uroporphyrin clearance was calculated. Plasma porphyrin concentrations were measured in patients with chronic renal failure (CRF). All our CRF patients on haemodialysis (10) had raised plasma uroporphyrin, 4 had raised plasma heptacarboxyporphyrins and 2 had raised plasma coproporphyrin, unchanged by haemodialysis. CRF patients with raised uroporphyrins and 7-carboxyporphyrins could be distinguished from PCT in patients with normal renal function, by their higher uro/7-carboxyporphyrin ratio (8.0 vs. 1.7). Renal clearance of coproporphyrin was much greater in HCP than in any of the other groups studied. Since coproporphyrin clearance was less than creatinine clearance in most normal subjects, and because 2 patients with CRF had raised plasma coproporphyrin concentrations, we argue that the kidney is probably not a major source of coproporphyrin, as previously reported. Furthermore, the variability and degree of abnormality in plasma porphyrins in CRF would suggest caution in diagnosing chronic porphyria in patients with renal impairment.

A double-blind, placebo-controlled, crossover trial of oral vitamin C in erythropoietic protoporphyria.

There is evidence that reactive oxygen species and free radicals may be involved in the pathogenesis of photosensitivity in erythropoietic protoporphyria (EPP). Considering the well-known antioxidant properties of vitamin C, we investigated whether oral supplementation with this vitamin was photoprotective in patients with EPP. Twelve patients with EPP received either oral vitamin C 1 g daily or placebo, for 4 weeks, followed by a crossover period of another 4 weeks. Nine patients were already receiving beta carotene at entry and continued this at the same dose throughout the study. Patients compared their sunlight tolerance throughout each of the treatment periods with sunlight tolerance at entry on a 10 cm visual analogue scale; at the end of the study, they were asked to choose which treatment period they felt had been associated with least photosensitivity. Eight patients stated that they were able to tolerate sunshine better during the vitamin C period, 2 during the placebo period and 2 noticed no difference between the two periods. This distribution of preferences approached but did not reach statistical significance in favour of vitamin C. Visual analogue scores improved by a median of 1.2 cm in the vitamin C period. This change too approached but did not reach statistical significance. Although these results do not reach statistical significance, it appears possible that oral vitamin C may reduce photosensitivity in some patients with EPP. A larger study is necessary to confirm this impression.

An acne-free naevus.

Investigation of rare disorders may sometimes help in the understanding of common problems. We describe a patient with an unusual and previously unreported acne-free naevus occurring in an area severely affected by acne. Investigation revealed smaller sebaceous glands, a reduced sebum excretion rate, decreased number of Corynebacterium acnes in the pilosebaceous ducts and a reduced conversion of testosterone to 5 alphadihydrotestosterone in the areas which were free of acne compared with acne-bearing skin. The results of these investigations support some of the suggested mechanisms responsible for the development of acne.