Hiperceratose epidermolítica: um seguimento de 23 anos de uso de retinoides orais

Abstract

A hiperceratose epidermolítica é uma forma de ictiose geralmente resistente a tratamentos tópicos. Relata-se um caso de paciente feminina , em acompanhamento na dermatologia desde 1978, com diagnóstico de hiperceratose epidermolítica. Foi tratada inicialmente com queratolíticos, vitamina A oral, ácido tartárico e emolientes tópicos, porém sem melhora no quadro clínico, já que não haviam disponíveis outros tratamentos na época. Em 1986, com o advento dos retinóides orais, foi introduzido o etretinato, e em 1998, foi substituído pelo acitretin, apresentando excelente resposta terapêutica. No momento a paciente está em uso de acitretin 25 mg/dia, completando 23 anos de uso de retinóides orais, com mínimos efeitos adversos e melhora significativa na qualidade de vida

Epidermolytic Hyperkeratosis - case report

“… 5 , 8 , 9 , 10 The best response was noticed in patients with CK10 mutation gene, that is, without palmoplantar alterations and with significant improvement in quality of life. 1 , 2 , 9 The mechanism of action of retinoids is still obscure. It seems to generate mutations in the expression of suprabasal keratins involved in EHK.…”

Mosaic epidermolytic ichthyosis - case report

“…1,3,7-10 The disease was previously known as epidermolytic hyperkeratosis or congenital bullous ichthyosiform erythroderma of Brocq. 5,9 The new nomenclature was suggested in a 2009 expert consensus document for specificity reasons, as epidermolytic hyperkeratosis is a histopathological term that can also be used to describe other diseases. 1,4,10 …”

“…5 The lesions tend to be located in skin folds, where there is more friction. 3 In the mosaic form, there may be bilateral involvement or just one side of the body may be affected, and it may follow Blaschko's lines, as in the case described.…”

“…Spontaneous mutations are responsible for 50% of all cases. 5,10 Two types of mosaicism may be involved: type 1 mosaicism, in which, during embryonic development, one allele of the gene involved is mutated, causing the disease in mosaic form; type 2 mosaicism, which occurs in heterozygous carriers of the disease that have lost the other normal allele due to standard post-zygotic mutation during embryonic development (loss of heterozygosity). This event results in more severe and earlier manifestations of the disease in a mosaic pattern, in individuals with a lighter, more diffuse presentation of the disease.…”

“…3 The first manifestations of the disease occur at birth, in the form of multiple erosions that subsequently originate hyperkeratotic lesions. 5 Epidermolytic ichthyosis may also be due to post-zygotic somatic mutation, manifesting as mosaicism, with areas of healthy skin interspaced with areas of lesion that often follow Blaschko's lines. 1,4,6 The mosaic form of epidermolytic ichthyosis is also known as epidermolytic nevus because of its similarity to linear epidermal nevus.…”