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 cross-sectional study of 223 patients with EPP in the United Kingdom identified six individuals with palmar keratoderma. We now show that these and three additional patients, from six families, have an inherited subtype of EPP which is characterized by seasonal palmar keratoderma, relatively low erythrocyte protoporphyrin concentrations, and recessive inheritance. No patient had evidence of liver dysfunction; four patients had neurological abnormalities. Patients were hetero- or homoallelic for nine different FECH mutations; four of which were previously unreported. Prokaryotic expression predicted that FECH activities were 2.7-25% (mean 10.6%) of normal. Neither mutation type nor FECH activity provided an explanation for the unusual phenotype. Our findings show that palmar keratoderma is a clinical indicator of recessive EPP, identify a phenotype that occurs in 38% of reported families with recessive EPP that to our knowledge is previously unreported, and suggest that patients with this phenotype may carry a lower risk of liver disease than other patients with recessive EPP.

Hidradenitis suppurativa treated with dapsone: A case series of five patients.

OBJECTIVE: To evaluate the efficacy of dapsone in the treatment of hidradenitis suppurativa refractory to therapy with oral antibiotics and isotretinoin. METHODS: A retrospective review was performed of five patients treated with dapsone between 2002 and 2005. Clinical improvement and adverse events were recorded by the physician. Patients were asked to retrospectively rate their symptoms prior to and after starting dapsone. RESULTS: Improvement was noted in all five patients within 4-12 weeks at doses ranging between 25 and 150 mg/day. All patients required maintenance therapy with dapsone at doses between 50 and 150 mg/day to sustain their disease control. Patient-reported symptoms improved in all cases after dapsone initiation, supporting physician observed clinical improvement. Treatment was well tolerated in all patients with no significant adverse effects noted. The median follow-up period was 24 months. CONCLUSION: Dapsone appears to be an effective and safe alternative therapeutic option for hidradenitis suppurativa and may be particularly useful for women in the reproductive age group.