Lack ofSSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?

Frank, Jorge; Steensel, M.A.M. van; Geel, Michel van

doi:10.1002/humu.20587

Cited by 8 publications

(6 citation statements)

References 7 publications

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“…1). Accordingly, the SSH1 mutation was absolutely not a polymorphism as Frank et al [2007] pointed out, but definitely a true mutation strongly associated with DSAP in this family. Therefore, we reported the aforementioned research results in Human Mutation in 2004 .…”

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confidence: 52%

“…We appreciated that Frank et al [2007] were interested in our research and commented on our article published in Human Mutation in 2004 and in the Journal of Investigative Dermatology in 2007 .…”

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confidence: 99%

“…In addition, unfortunately, Frank et al [2007] did not clearly understand the two sequencing figures , which are now included with this letter with annotations (Fig. 2).…”

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confidence: 99%

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Association ofSSH1 mutations with disseminated superficial actinic porokeratosis in Chinese pedigrees (response to Frank et al.)

et al. 2007

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confidence: 52%

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confidence: 99%

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Association ofSSH1 mutations with disseminated superficial actinic porokeratosis in Chinese pedigrees (response to Frank et al.)

et al. 2007

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“…Its molecular basis is so far unknown, although three different genetic loci and diverse candidate genes have been proposed [2, 3]. However, these data could not be reproduced by other groups so far and require further confirmation [4, 5]. Except for sun exposure, several risk factors have been associated with the development of DSAP, including virus infection, immunosuppression and radioactivity.…”

Section: Discussionmentioning

confidence: 99%

A Case of Linear Porokeratosis Superimposed on Disseminated Superficial Actinic Porokeratosis

Löhrer

Neumann-Acikel²,

Eming³

et al. 2010

Case Rep Dermatol

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We present a female patient with linear porokeratosis of her right arm since childhood. At the age of 67 years she additionally developed disseminated superficial actinic porokeratosis (DSAP) involving both lower legs. This uncommon coexistence of two different types of porokeratosis fulfils the clinical criteria of a type 2 segmental manifestation of an autosomal dominant skin disorder, being superimposed on the ordinary nonsegmental lesions and reflecting loss of heterozygosity that occurred at an early developmental stage. In DSAP molecular evidence of this concept is so far lacking, but such proof has already been provided in several other autosomal dominant skin disorders. Molecular analysis of cases of type 2 segmental involvement may help elucidate the genetic defect causing DSAP.

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“…Certain mutations that are associated with porokeratosis, including frameshift mutations, have been identified (2,3). However, these events are confined to certain pedigrees (4). Clinical and molecular evidence has demonstrated that porokeratosis can be considered to be a premalignant skin condition (5,6).…”

Section: Introductionmentioning

confidence: 99%

Clinical analysis and etiology of porokeratosis

Zhang

Chen

et al. 2014

Experimental and Therapeutic Medicine

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The present study was performed in order to define the clinical manifestations of porokeratosis, with particular emphasis on genital porokeratosis. A total of 55 cases of porokeratosis were retrospectively reviewed between 2000 and 2007 from Huashan Hospital (Shanghai, China). Out of 55 cases, there were 22 cases of porokeratosis of Mibelli, 17 cases of disseminated superficial actinic porokeratosis (DSAP), 15 cases of disseminated superficial porokeratosis and one case of linear porokeratosis. The ratio of males to females was 39:16. Among them, 12 cases had a family history of porokeratosis. During the five-year follow-up period, no malignant transformation was observed and no further aggravation of lesions was detected. The results indicated that the initial region of DSAP in the Chinese population may differ from Caucasians. In combination with other studies, the present study found that genital porokeratosis in the Chinese population is often associated with pruritus. Since no recurrence was observed in cases treated with surgical excision, it was suggested that surgical excision is a viable treatment strategy and should be used for porokeratotic lesions if possible. In addition, regular follow-ups are required, since the aggravation of porokeratosis may cause the development of malignancy transformation.

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Lack ofSSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?

Cited by 8 publications

References 7 publications

Association ofSSH1 mutations with disseminated superficial actinic porokeratosis in Chinese pedigrees (response to Frank et al.)

Association ofSSH1 mutations with disseminated superficial actinic porokeratosis in Chinese pedigrees (response to Frank et al.)

A Case of Linear Porokeratosis Superimposed on Disseminated Superficial Actinic Porokeratosis

Clinical analysis and etiology of porokeratosis

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