Orphanet J Rare Dis
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Primary erythromelalgia (PE ORPHA90026) is a rare autosomal dominant neuropathy characterized by the combination of recurrent burning pain, warmth and redness of the extremities. The incidence rate of PE ranges from 0.36 to 1.1 per 100,000 persons. Gender ratio differs according to different studies and no evidence showed a gender preference. ⋯ Patients' symptoms often worsen over time and many patients develop ulcerations and gangrenes caused by excessive exposure to low temperature in order to relieve pain. This review mainly focuses on PE and the causative gene SCN9A--its mutations and their effects on Nav1.7 channels' electrophysiological properties. We propose a genotype-channelopathy-phenotype correlation network underlying PE etiology which could provide guidance for future therapeutics.
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Orphanet J Rare Dis · Sep 2015
ReviewIchthyosis with confetti: clinics, molecular genetics and management.
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichthyosiform erythroderma or with a collodion baby picture. The erythrodermic and ichthyotic phenotype persists during life and its severity may modify. ⋯ Like for other congenital ichthyoses, topical treatments (mainly emollients and keratolytics) are symptomatic and offer only temporary relief. Among systemic treatments, retinoids, in particular acitretin, improve disease symptoms in most patients. Although at present there is no curative therapy for ichthyoses, treatments have improved considerably over the years and the best therapy for each patient is always the result of both physician and patient efforts.