Porokeratosis (PK) consists of abnormal keratinization of the epidermis of uncertain etiology and was first described by Mibelli in 1893. Multiple clinical variants of porokeratosis are recognized. The following is a case of a young male who presented more than one form of PK simultaneously. The hallmark of PK is the cornoid lamella, which can be identified in histopathology, and sometimes, as in our case, dermoscopy examination is the clue for diagnosis. This condition is often misdiagnosed and, therefore, not appropriately treated. Several treatment options are available and each clinical form may respond better to a specific therapy. However, consistency in treatment guidelines is still lacking.

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The technological advancement of the pharmaceutical industry, resulting from the techniques of molecular biology and expansion of the knowledge of immunopathogenesis, has modified the therapeutic arsenal used in dermatology. Scientific research and regulatory standards cause drug costs to rise, thus making their use impossible in most public policies. In order to make high-cost drugs viable in the public health network, the Specialized Pharmaceutical Assistance Component was created. However, despite the frequent incorporation of medications, the constant requirement of drugs through lawsuits leads to exorbitant costs to the state budget. The present work analyzed through a descriptive observational study, the current situation of the Specialized Component and the involvement of medicines used in dermatology, through legal reviews, financial analyses, and medical articles, aiming at future incorporations for the specialty. When assessing the legal demands for dermatological drugs in the state of São Paulo, the specialty still has a low participation and psoriasis is the main disease involved in requiring drugs through the judicial system in the state. New methods of access to raw materials must be created to reduce legal issues. Cost-effectiveness and public planning studies are mandatory for incorporating new dermatological therapies.

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BackgroundErythrokeratodermas are a heterogeneous group of keratinization disorders. They are inherited in both autosomal dominant and autosomal recessive pattern. Erythrokeratoderma variabilis et progressive (EKVP) is a disorder caused by variations in genes that codify connexins (GJA1, GJB3, GJB4). The distinction between different phenotypes is not always simple. Age of presentation varies from birth to adulthood; stationary or migratory erythematous plaques associated with nonmigratory hyperkeratosis are characteristic of this disorder. Nails, hair, and teeth are not affected.MethodsIn order to describe the clinical phenotypes and molecular findings in a large Brazilian pedigree affected by erythrokeratoderma, we performed a clinical evaluation of four patients with different presentations of erythrokeratoderma from the same family, in which there are 35 affected members distributed in six generations. Genomic DNA evaluation by Sanger sequencing of GJB3 and GJB4 was performed in two affected family members with different phenotypes.ResultsClinical heterogeneity in affected patients was remarkable. In patients investigated with genetic testing, a heterozygous pathogenic gene variant in the GJB4 (gap junction protein beta‐4) gene was found positive for GJB4:c.35G>A (rsrs80358211). One patient also presented a synonymous variant in GJB3:c.357C>T (rs41310442).ConclusionVariants in GJB4 are classically associated with Erythrokeratodermia variabilis, but there is remarkable clinical heterogeneity. Our observation that the same variant caused different phenotypes within the same family corroborates clinical heterogeneity and suggests that other genes that compose the genetic background exert some influence on the disease phenotype.

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