Disseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report

Romagnuolo, Maurizio; Riva, Davide; Violetti, Silvia Alberti; Benedetto, Alessandra Di; Barberi, Francesco; Moltrasio, Chiara

doi:10.1111/ajd.13943

Cited by 8 publications

(7 citation statements)

References 12 publications

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“…Diagnostic challenges in disseminated superficial porokeratosis are well-recognized due to the condition's variable presentation and potential mimicry of other dermatoses. The characteristic histopathological finding of a coronoid lamella is crucial for definitive diagnosis [ 3 , 4 ]. In this case, the initial presentation on sun-exposed areas and subsequent involvement of other body regions underscore the importance of considering disseminated superficial porokeratosis in the differential diagnosis of annular lesions.…”

Section: Discussionmentioning

confidence: 99%

Disseminated Superficial Porokeratosis: A Case Report

Taha,

Khormi,

Alali

et al. 2024

Cureus

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Disseminated superficial porokeratosis is a rare dermatological disorder characterized by annular keratotic lesions, presenting diagnostic challenges due to its variable clinical manifestations. The pathogenesis involves genetic predisposition and environmental factors, with mutations in the mevalonate pathway implicated. Despite its benign nature, this condition significantly impacts patients' quality of life, necessitating accurate diagnosis and effective therapeutic strategies. We present the case of a 45-year-old female with a three-year history of annular plaques on sun-exposed areas progressing to involve multiple body regions. The characteristic histopathological finding of coronoid lamellae confirmed the diagnosis of disseminated superficial porokeratosis. Treatment involved a multimodal approach, including topical corticosteroids, calcineurin inhibitors, and systemic retinoids, resulting in satisfactory clinical outcomes. Long-term follow-up emphasized the need for ongoing disease monitoring and patient education regarding sun protection. The presented case underscores the importance of recognizing characteristic histopathological features for accurate diagnosis and highlights the significance of long-term follow-up, disease monitoring, and patient education to optimize outcomes and enhance overall quality of life.

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Section: Discussionmentioning

confidence: 99%

Disseminated Superficial Porokeratosis: A Case Report

Taha,

Khormi,

Alali

et al. 2024

Cureus

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“…Genital porokeratosis has also been linked to certain genetic disorders, including Nijmegen breakage syndrome, craniosynostosis–anal anomalies–porokeratosis syndrome, and trisomy 16 ( 2 , 4 ). Autosomal dominant inheritance has been reported to cause porokeratosis ( 5 ), and porokeratosis has been associated with heterozygous germline mutations in four mevalonate kinase (MVK) pathway genes: MVK , MVD , PMVK , and FDPS ( 6 ). While porokeratosis is usually asymptomatic ( 5 ), itching is a prominent feature of scrotal porokeratosis, likely attributed to repeated friction and scratching, especially in hot or humid climates ( 1 , 7 , 8 ).…”

Section: Discussionmentioning

confidence: 99%

Porokeratosis of the scrotum: a case report and literature review

Zhang,

Chen,

Yang

2024

Front. Med.

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Porokeratosis, a keratinizing disorder of unknown etiology, exhibits an autosomal dominant inheritance pattern or manifests as an isolated acquired dermatosis. This condition can occur at any site on the skin; however, scrotal lesions are extremely rare. Only 18 cases of scrotal lesions were identified through a comprehensive review of the relevant literature. Herein, we present a case of a 19-year-old patient with porokeratosis of the scrotum. Additionally, we provide a summary of the etiologies, clinical manifestations, and histopathology of scrotal porokeratosis, and present differential diagnoses by reviewing the related literature.

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“…Exposure to ultraviolet, genetic susceptibility, immunosuppression, radiation, drugs and viral infections were considered risk factors for PK. [7][8][9][10][11] In 2012, mutations in MVK, a mevalonate pathway gene, were identified as causative genes for DSAP. Subsequently, other mevalonate pathway genes, including FDPS, MVD, and PMVK, have been associated with 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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Disseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report

Cited by 8 publications

References 12 publications

Disseminated Superficial Porokeratosis: A Case Report

Disseminated Superficial Porokeratosis: A Case Report

Porokeratosis of the scrotum: a case report and literature review

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

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