Two closely linked variations in actin cytoskeleton pathway in a Chinese pedigree with disseminated superficial actinic porokeratosis

Zhang, Zhenghua; Huang, Wei; Niu, Zhenmin; Liu, Weida; Xiang, Leihong; Yuan, Wentao; Zhao, Jingjun; Gu, Chaoying; Chai, Bin; Jiang, Faxing; Zhang, Jing; Xu, Shijie; Zhang, Zheng

doi:10.1016/j.jaad.2005.01.099

Cited by 23 publications

(19 citation statements)

References 16 publications

(12 reference statements)

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“…Several family reports for porokeratosis have been previously published (2,3,23) and a considerable portion of the reports described DSAP families. Our previous studies demonstrated that mutations in SSH1 or ARPC3 are responsible for DSAP in certain pedigrees (2,3).…”

Section: Discussionmentioning

confidence: 99%

“…Our previous studies demonstrated that mutations in SSH1 or ARPC3 are responsible for DSAP in certain pedigrees (2,3). Furthermore, in the present study, it was observed that among the inherited cases (12 cases), eight cases were DSAP, which accounted for 66.7% of the inherited cases.…”

Section: Discussionmentioning

confidence: 99%

“…Certain mutations that are associated with porokeratosis, including frameshift mutations, have been identified (2,3). However, these events are confined to certain pedigrees (4).…”

Section: Introductionmentioning

confidence: 99%

“…However, effective treatments to cure porokeratosis are currently lacking. In the last twenty years, there were numerous cases of porokeratosis reported in families (2,3,7). Furthermore, there have also been a number of case reports, nevertheless, no more than 31 cases have been investigated individually.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Certain mutations that are associated with porokeratosis, including frameshift mutations, have been identified (2,3). However, these events are confined to certain pedigrees (4).…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical analysis and etiology of porokeratosis

Zhang

Chen

et al. 2014

Experimental and Therapeutic Medicine

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“…Based on genome linkage mapping, microsatellite marker polymorphisms, and polymerase chain reaction amplification studies in large Chinese families with DSAP, at least 3 candidate loci are identified: DSAP1 (SART3 on chromosome 12q24.1-24.2). 22,23 DSAP2 (SSH1 and ARPC3 on chromosome 15q25.1-26.1), 24,25 and DSAP3 (on chromosome 1p31.3-p31.1). 26 One potential locus is identified for disseminated superficial porokeratosis (on chromosome 18p11.3) 27 and one for porokeratosis palmaris et plantaris disseminata (on chromosome 12q24.1-24.2).…”

Section: J Am Acad Dermatolmentioning

confidence: 99%

Disseminated superficial actinic porokeratosis co-existing with linear and verrucous porokeratosis in an elderly woman: Update on the genetics and clinical expression of porokeratosis

Murase

Gilliam

2010

Journal of the American Academy of Dermatology

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Inherited Disorders of Cornification

Oji

Metze

Traupe

2016

Rook's Textbook of Dermatology, Ninth Edition

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The majority of keratinization disorders are referred to as Mendelian disorders of cornification. This is a very broad group, clinically characterized by hyperkeratosis or visible scaling or both. This chapter deals with the ichthyoses, palmoplantar keratodermas (PPKs) and miscellaneous cornification disorders such as porokeratoses. It is aimed primarily at dermatologists and physician scientists who have to make a clinical diagnosis and provide adequate management for their patients. Therefore a nosology and classification scheme has been chosen that is based on clinicogenetic and morphological features. Clinical diagnoses are then discussed with their molecular pathology. Part of the chapter addresses the management of congenital ichthyoses. Various tables provide an overview on clinical and/or pathophysiologically related groups of diseases. Finally, several cornification disorders are discussed that do not have a genetic basis, but are acquired or are of unknown aetiology (e.g. acquired ichthyoses/PPKs or perforating keratotic disorders).

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Two closely linked variations in actin cytoskeleton pathway in a Chinese pedigree with disseminated superficial actinic porokeratosis

Cited by 23 publications

References 16 publications

Clinical analysis and etiology of porokeratosis

Clinical analysis and etiology of porokeratosis

Disseminated superficial actinic porokeratosis co-existing with linear and verrucous porokeratosis in an elderly woman: Update on the genetics and clinical expression of porokeratosis

Inherited Disorders of Cornification

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