Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis

Sun, Ruifeng; Chen, Hui; Zhu, Wei; Lian, Shi

doi:10.4103/0366-6999.209905

Cited by 3 publications

(7 citation statements)

References 5 publications

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Section: Discussionmentioning

confidence: 99%

“…Porokeratosis is considered as an autosomal dominant inherited disorder with the variable clinical presentation, but unified histological characteristics of cornoid lamella [ 1 ][ 2 ]. The approximate age of onset is 45 - 50 years, although the reported cases range between 27 - 84 years [ 1 ][ 2 ]. Although it is believed that the sun-exposed areas are mainly affected, the most common regions of occurrence are extremities, the buttocks, and genitogluteal region, while facial lesions are rare [ 2 ][ 4 ].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Porokeratosis represents a clonal disorder of keratinisation, first described in 1983 as a chronic parakeratotic skin disorder [ 1 ]. The condition is characterised by one or more atrophic patches, typically found on sun-exposed areas, surrounded by a distinctive peripheral keratotic ridge, called the cornoid lamella [ 1 ][ 2 ]. Several clinical variants have been described, as the most common among them include classic porokeratosis of Mibelli (PM), disseminated superficial actinic porokeratosis (DSAP) and its nonactinic variant disseminated superficial porokeratosis (DSP), linear porokeratosis, porokeratosis palmaris et plantaris disseminata (PPPD), punctate porokeratosis, which might represent a variant of PPPD [ 1 ][ 2 ][ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…Although aetiology is not well - established, exposure to ultraviolet radiation, organ transplantation, chemotherapy, repetitive trauma, liver failure, chronic renal failure, hepatitis C, HIV, and other diseases associated with immunosuppression are considered risk factors which activate abnormal clones of keratinocytes [ 3 ]. Gene mutations in mevalonate pathway enzymes have also been implicated in etiopathology, such as mevalonate kinase (MVK), phosphomevalonate kinase (PMVK), mevalonate decarboxylase (MVD), and farnesyl diphosphate synthase (FDPS), as c.746 T > C and c.875A > G of the MVD gene are most common mutations [ 1 ][ 6 ]. Beside the immunosuppression variety of disorders associated with the condition, disseminated superficial porokeratosis has been reported in systemic lupus erythematosus (SLE) patient with long-term corticosteroid treatment [ 7 ], patients with diabetes mellitus [ 8 ] and associated with haematological disorders such as Hodgkin’s disease and B-cell lymphoma [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

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Disseminated Porokeratosis with Idiopathic Thrombocytopenia - Case Report and Literature Review of Porokeratosis and Related Disorders

Chokoeva¹,

Wollina²,

Lotti³

et al. 2018

Open Access Maced J Med Sci

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BACKGROUND:Porokeratosis is characterised by one or more atrophic patches surrounded by a distinctive peripheral keratotic ridge, typically found on sun-exposed areas, with several clinical variants and typical histological findings. Despite ultraviolet radiation, varies antibody - related autoimmune disease treated with systemic steroids and other immunosuppressive conditions such as chronic liver disease, HIV and organ transplantations have been implicated in its etiopathology.CASE REPORT:We present a case of porokeratosis, associated with idiopathic thrombocytopenia in 74 - year old, otherwise healthy male patient, as we discuss the previously reported associated disorders.CONCLUSION:Regarding all of the polymorphism of clinical presentation, associated disorders and treatment responses, we could conclude that disseminated porokeratosis is still an unknown well disorder, which will continue to surprise the physicians in future. The screening and follow up of the patients is mandatory in all cases because as we see, porokeratosis has multiple unexpected faces, which require circumstantial clinical and paraclinical behaviour.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Disseminated Porokeratosis with Idiopathic Thrombocytopenia - Case Report and Literature Review of Porokeratosis and Related Disorders

Chokoeva¹,

Wollina²,

Lotti³

et al. 2018

Open Access Maced J Med Sci

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Porokeratosis: clinical manifestations and treatment options

Yakovlev

Golanova

2020

Medicinskij alfavit

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Porokeratosis is a rare disease with an autosomal dominant type of inheritance. It is customary to distinguish classic Mibelli porokeratosis, as well as disseminated and localized variations of the course of dermatosis, which differ in genetic predisposition, trigger factors, and treatment approaches. The article describes the variants of the disease – eruptive itchy papular malformation that occurs on the extremities against the background of microcirculation disorders and giant, developed on the skin of the trunk. The main methods of treatment of porokeratosis are also described.

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Familial porokeratosis Mibelli

Tomaszewska¹,

Dominiak²,

Zalewska-Janowska³

et al. 2018

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Introduction. Porokeratoses (PK) are a group of uncommon dermatoses, characterised by a keratinisation disorder, manifesting clinically with annular or linear, well-limited, keratotic plaques and histologically by the presence of the "cornoid lamella". Objective. To present and discuss a case of the familiar porokeratosis Mibelli in 11-year-old girl and her 40-year-old mother. Case report. We present the case of an 11-year-old girl and her 40-yearold mother with clearly demarcated, slightly atrophic annular lesions surrounded by slightly scaly hyperkeratotic ridge. In the girl, the lesions were located on the right lower limb, in the mother on both of the shins. The diagnosis was confirmed by histopathological examination. The patients were treated with topical 0.1% adapalene cream. Conclusions. The presented case is interesting because of the family occurrence of the disease. streszczenie Wprowadzenie. Porokeratozy (PK) to rzadka grupa chorób skóry, których istotą jest zaburzony proces rogowacenia naskórka. Klinicznie schorzenia te charakteryzują się występowaniem obrączkowatych bądź linijnych zmian z hiperkeratotyczną obwódką i zanikiem w części środkowej. Histologiczną cechą wszystkich wariantów choroby jest obecność zrogowaciałych blaszek: corneoid lamellae. Cel pracy. Przedstawienie i omówienie przypadku rodzinnego występowania porokeratozy Mibellego u 11-letniej dziewczynki i jej 40-letniej matki. Opis przypadku. Przedstawiono przypadek 11-letniej dziewczynki i jej 40-letniej matki ze zmianami skórnymi w postaci wyraźnie odgraniczonych, lekko zanikowych, obrączkowatych ognisk z widoczną uniesioną, delikatnie łuszczącą się hiperkeratotyczną obwódką. U dziewczynki zmiany zlokalizowane były na prawej kończynie dolnej, a u matki na obu podudziach. Rozpoznanie potwierdzono badaniem histopatologicznym. Do leczenia u obu pacjentek włączono miejscowo 0,1% adapalen w kremie. Wnioski. Przedstawiony przypadek jest interesujący ze względu na rodzinne występowanie schorzenia.

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Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis

Cited by 3 publications

References 5 publications

Disseminated Porokeratosis with Idiopathic Thrombocytopenia - Case Report and Literature Review of Porokeratosis and Related Disorders

Disseminated Porokeratosis with Idiopathic Thrombocytopenia - Case Report and Literature Review of Porokeratosis and Related Disorders

Porokeratosis: clinical manifestations and treatment options

Familial porokeratosis Mibelli

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