Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger?

We present an interesting case of porphria cutanea tarda with hereditary haemochromatosis and non-classical congenital adrenal hyperplasia in a postmenopausal woman. This unusual combination of conditions does not appear to be reported in the literature. The exact mechanism causing porphyria in this patient is not clear.

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.

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH). It is characterized clinically by acute photosensitivity and, in 2% of patients, liver disease. Inheritance is usually autosomal dominant with low penetrance but is recessive in about 4% of families.

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.

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).

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.

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.