Pityriasis rubra pilaris

008 Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14

“…1,2 Most cases of PRP are sporadic but ~1 in 20 show autosomal dominant inheritance. 3 Moreover, some familial PRP has been shown to result from gain-of-function mutations in CARD14, encoding caspase recruitment domain-containing…”

A Novel Case of Recalcitrant Juvenile Pityriasis Rubra Pilaris with Response to Bexarotene

“…PRP occurs in three distinct peaks, during the first decade, second decade, or in adulthood (40-60 years) [1,3]. Most commonly, PRP develops as an acquired disorder [1,3]; however, it has been estimated that, as in our case, 6.5% of PRP cases are due to familial inheritance [1]. The inheritance pattern is generally autosomal dominant with variable expressivity, though an autosomal recessive pattern has also been reported [3].…”

Systemic sclerosis in a patient with pityriasis rubra pilaris

“…It was speculated that the disorder might be the result of an abnormal immune response to some antigenic stimuli [6,8]. Determining whether co-occurrence of PRP and SSc represents a relationship or simply a chance occurrence awaits systematic investigation of each of these rare disorders for evidence of the other disorder recognized here.…”

“…Spontaneous resolution occurs in 80% of patients Page number not for citation purposes 3 within 1-3 years [1,5]. It is characterized by follicular hyperkeratotic papules that coalesce into large, scaly, erythematous plaques, palmoplantar keratoderma, diffuse scaling of the scalp sometimes progressing into erythroderma [1,[6][7][8]. The affected skin is extremely rough to touch [3].…”

“…PRP has been reported in association with HIV infection [11][12][13], malignancy [4] and Down's syndrome [14]. PRP has been reported to occur simultaneously with several autoimmune disorders [7,6,15,16] including thyroiditis [15,16], myositis [17], myasthenia gravis [18], coeliac sprue [19] and vitiligo [14].…”