A rare case of multiple variants of porokeratosis in the same patient: The clue of dermoscopy for diagnosis and therapeutical update

Oliveira, Renan Tironi Giglio de; Simoneti, Fernanda Soares; Agostinho, Giovana Larissa Prado Leite; Abdalla, Beatrice Martinez Zugaib; Locatelli, D.; Pincelli, Thais; Criado, Paulo Ricardo

doi:10.1111/dth.13274

Cited by 2 publications

(4 citation statements)

References 9 publications

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“…Previous publications, mainly case reports, have not reported frequencies of specific dermoscopic findings in porokeratosis. However, a keratin rim was observed in all previously reported cases of porokeratosis which is in concordance with our cohort in which it was present in over 90% of the cases 2,7,9–26 . The presence of grey‐brown dots or pigmentation along the keratin rim has been reported on several occasions and was detected in 38.5% of lesions in our data set 2,9,10,13,15,21–26 .…”

Section: Discussionsupporting

confidence: 92%

“…Although cases of malignant transformation of porokeratosis have been reported, this is a rare event 5,6 . Active treatment is not always required and often ineffective, but moisturizer, sun protection, 5‐fluorouracil, cryotherapy, oral acitretin and imiquimod are possible treatment modalities 7,8 …”

Section: Introductionmentioning

confidence: 99%

“…Dermoscopy may increase diagnostic accuracy as several features of porokeratosis have previously been described in smaller case series including: keratin rim (also described as ‘white or annular hyperkeratotic track’, ‘rim with double edge or border’ or ‘peripheral hyperkeratotic structure’), fine black or brown‐coloured dots limited to the periphery of the lesion, vascular structures (also reported as ‘red lines’, ‘glomerular or dotted vessels’, ‘linear vessels crossing the lesion’ or ‘pinpoint vessels’), scales within the keratin rim (also referred to as ‘scaly atrophic erythematous central area’) and central brown pigmentation 5,7,9–26 . Nevertheless, the frequency of these dermoscopic features in porokeratosis in general is unknown and standardized terminology for these features is lacking.…”

Section: Introductionmentioning

confidence: 99%

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Dermoscopy of porokeratosis: results from a multicentre study of the International Dermoscopy Society

Zaar

Polesie

Navarrete‐Dechent

et al. 2021

Acad Dermatol Venereol

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Background The diagnosis of porokeratosis can be challenging, and knowledge about its dermoscopic features is limited. Objectives To describe the dermoscopic features of porokeratosis of Mibelli and disseminated superficial actinic porokeratosis (DSAP) and the frequency of these features in a larger case series. The interobserver concordance was also assessed. Methods In this retrospective cohort study, members of the International Dermoscopy Society contributed macroscopic and dermoscopic images of histopathologically verified cases of porokeratosis of Mibelli or DSAP. Three observers independently reviewed the collected images to identify the presence of predefined dermoscopic features. Following this, a consensus meeting was held to agree upon which dermoscopic features were present in each lesion. Results In total, 78 clinical and dermoscopic images of porokeratoses were collected. The most common dermoscopic feature was keratin rim, which was present in 74 lesions (92.3%). The most common vascular structures were dotted or glomerular vessels which were present in almost half of the cases (48.7%). Other relatively frequent dermoscopic findings were as follows: non‐peripheral scales (44.9%), grey‐brown dots or pigmentation along the keratin rim (38.5%), and light‐brown pigmentation within the keratin rim (33.3%). Shiny white structures and blood spots or erosions along the keratin rim were findings never before described in porokeratosis and were detected in 16.7% and 17.9% of the lesions, respectively. Dermoscopic findings in porokeratosis of Mibelli and DSAP were similar except for fewer blood spots or erosions along the keratin rim and more light‐brown pigmentation within the keratin rim in DSAP. The interobserver concordance ranged from 0.44 (moderate) to 0.84 (almost perfect). Conclusions The dermoscopic hallmark of porokeratosis is the keratin rim, a finding also allowing for almost perfect interobserver agreement. Pigmentation or erosions along the keratin rim, vascular structures, as well as scales, pigmentation or shiny white structures within the keratin rim are additional dermoscopic clues.

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Dermoscopy of porokeratosis: results from a multicentre study of the International Dermoscopy Society

Zaar

Polesie

Navarrete‐Dechent

et al. 2021

Acad Dermatol Venereol

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“…Mibelli et al first reported and described porokeratosis more than 100 years ago; 6 however, its etiology and pathogenesis remain insufficiently understood. Exposure to ultraviolet, genetic susceptibility, immunosuppression, radiation, drugs and viral infections were considered risk factors for PK.…”

Section: Discussionmentioning

confidence: 99%

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis

Wang,

Ouyang,

Zhang

et al. 2024

CCID

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Purpose Porokeratosis (PK) is a chronic autosomal-dominant cutaneous keratinization disorder exhibiting clinical and genetic heterogeneity. Mevalonate decarboxylase ( MVD ), farnesyl diphosphate synthase ( FDPS ), phosphomevalonate kinase( PMVK ), and mevalonate kinase genes( MVK ), which encode the mevalonate pathway, are disease-causing genes in PK. Patients and Methods Data and blood samples were collected from two Chinese families and five sporadic patients with porokeratosis. Whole-exome and Sanger sequencing were performed to detect pathogenic gene mutation in the patients. Results Five heterozygous mutations were identified, including a novel FDPS stop-gain mutation c.438T>G (p.Tyr146Ter), a novel MVD missense mutation c.683G>C (p.R228P), and three previously reported MVD mutations: c.746T>C (p.F249S), c.875A>G (p.N292S), and c.1111_1113del (p.371_371del). The novel FDPS c.438T>G mutation was predicted as “disease-causing” (p = 1) by Mutation Taster. The other novel MVD c.683G>C was also predicted as “deleterious” (score = 0.00) by Sorting Intolerant From Tolerant (SIFT), “probably damaging” (score = 1) by PolyPhen2, and “disease-causing” (p = 0.999) by Mutation Taster. Conclusion Our results extended the mutation spectrum of mevalonate pathway genes in porokeratosis and provided useful strategies for a more accurate diagnosis and genetic counseling.

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A rare case of multiple variants of porokeratosis in the same patient: The clue of dermoscopy for diagnosis and therapeutical update

Cited by 2 publications

References 9 publications

Dermoscopy of porokeratosis: results from a multicentre study of the International Dermoscopy Society

Dermoscopy of porokeratosis: results from a multicentre study of the International Dermoscopy Society

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis

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