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Metabolites Nov 2023Porokeratosis is a heterogeneous group of keratinising disorders characterised by the presence of particular microscopic structural changes, namely the presence of the... (Review)
Review
Porokeratosis is a heterogeneous group of keratinising disorders characterised by the presence of particular microscopic structural changes, namely the presence of the cornoid lamella. This structure develops as a consequence of a defective isoprenoid pathway, critical for cholesterol synthesis. Commonly recognised variants include disseminated superficial actinic porokeratosis, disseminated superficial porokeratosis, porokeratosis of Mibelli, palmoplantar porokeratosis (including porokeratosis palmaris et plantaris disseminata and punctate porokeratosis), linear porokeratosis, verrucous porokeratosis (also known as genitogluteal porokeratosis), follicular porokeratosis and porokeratoma. Apart from the clinical presentation and epidemiology of each variant listed, this review aims at providing up-to-date information on the precise genetic background, introduces imaging methods facilitating the diagnosis (conventional and ultraviolet-induced fluorescence dermatoscopy, reflectance confocal microscopy and pathology), discusses their oncogenic potential and reviews the literature data on the efficacy of the treatment used, including the drugs directly targeting the isoprenoid-mevalonate pathway.
PubMed: 38132857
DOI: 10.3390/metabo13121176 -
Journal of Cutaneous Pathology Dec 2022
Topics: Humans; Porokeratosis
PubMed: 35075675
DOI: 10.1111/cup.14195 -
Seminars in Cutaneous Medicine and... Mar 2018Dermatopathology reporting can be both exact and inexact. Exact reporting represents the use of terminology that corresponds to a disease sui generis, such as discoid... (Review)
Review
Dermatopathology reporting can be both exact and inexact. Exact reporting represents the use of terminology that corresponds to a disease sui generis, such as discoid lupus erythematosus or disseminated superficial porokeratosis. Inexact reporting can vary greatly amongst various practitioners-both in terms of the exact semantics used and also stylistically-and can be used habitually by pathologists as a means to provide cover for diagnostic uncertainty or inexperience. This article explores the use of descriptive (inexact) reporting as it applies to cutaneous lymphoma and its differential diagnosis. A collection of practical descriptive diagnostic categories that will be of use to both dermatologists and dermatopathologists is included.
Topics: Biopsy; Humans; Lymphoma; Skin Neoplasms
PubMed: 29719023
DOI: 10.12788/j.sder.2018.016 -
JAMA Dermatology May 2019Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination. Because...
IMPORTANCE
Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination. Because linear porokeratosis manifests in the lines of Blaschko representing the dorsoventral migration patterns of keratinocyte precursors, it has been suggested that postzygotic somatic mutation underlies the disease. However, no genetic evidence has supported this hypothesis to date.
OBJECTIVE
To identify genetic mutations associated with linear porokeratosis.
DESIGN, SETTING, AND PARTICIPANTS
Paired whole-exome sequencing of affected skin and blood/saliva samples from 3 participants from 3 academic medical centers with clinical and histologic diagnoses of linear porokeratosis.
INTERVENTIONS OR EXPOSURES
Whole-exome sequencing of paired blood/saliva and affected tissue samples isolated from linear porokeratosis lesions.
MAIN OUTCOMES AND MEASURES
Germline and somatic genomic characteristics of participants with linear porokeratosis.
RESULTS
Of the 3 participants, 2 were male. Participant ages ranged from 5 to 20 years old. We found a combination of a novel germline mutation and a novel somatic mutation within affected tissue in all cases. One participant had a germline heterozygous PMVK c.329G>A mutation and a somatic copy-neutral loss of heterozygosity confined to the lesional skin, while a second had a germline heterozygous PMVK c.79G>T mutation and an additional PMVK c.379C>T mutation in the lesional skin. In a third participant, there was a germline splice-site mutation in MVD (c.70 + 5G>A) and a somatic deletion in MVD causing frameshift and premature codon termination within the lesional skin (c.811_815del, p.F271Afs*33 frameshift).
CONCLUSIONS AND RELEVANCE
Our findings suggest that linear porokeratosis is associated with the presence of second-hit postzygotic mutations in the genes that encode enzymes within the mevalonate biosynthesis pathway, and provide further evidence that the mevalonate pathway may be a potential target for therapeutic intervention in porokeratosis.
Topics: Academic Medical Centers; Child, Preschool; DNA Copy Number Variations; DNA Mutational Analysis; Germ-Line Mutation; Humans; Male; Phosphotransferases (Phosphate Group Acceptor); Porokeratosis; Sampling Studies; Sensitivity and Specificity; Exome Sequencing; Young Adult
PubMed: 30942823
DOI: 10.1001/jamadermatol.2019.0016 -
The Australasian Journal of Dermatology Aug 2015
Topics: Adalimumab; Adult; Anti-Inflammatory Agents; Crohn Disease; Drug Eruptions; Humans; Male; Porokeratosis
PubMed: 26201378
DOI: 10.1111/ajd.12215 -
Acta Dermato-venereologica Aug 2023This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated...
This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated healthcare usage. Patients diagnosed with genodermatoses were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) between 2016 and 2020. Clinical data from medical records were used to verify diagnoses recorded in the National Patient Registry (NPR). The NPR was then searched for International Classification of Diseases, Tenth Revision (ICD-10) codes Q80-82 and Q84 from 2001 to 2020. The local cohort included 298 patients with 36 unique genodermatosis diagnoses. Verification of these diagnoses in the NPR showed positive predictive values of over 90%. The NPR search yielded 13,318 patients with 73 unique diagnoses, including ichthyoses (n = 3,341; 25%), porokeratosis (n = 2,277; 17%), palmoplantar keratodermas (n = 1,754; 13%), the epidermolysis bullosa group (n = 1011; 7%); Darier disease (n = 770; 6%), Hailey-Hailey disease (n = 477; 4%) and Gorlin syndrome (n = 402; 3%). The incidence and prevalence of each diagnosis were calculated based on the nationwide cohort and are reported. A total of 149,538 outpatient visits were registered, a mean of 4.6 visits per patient. This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.
Topics: Humans; Incidence; Prevalence; Sweden; Cohort Studies; Retrospective Studies
PubMed: 37615526
DOI: 10.2340/actadv.v103.12404 -
International Journal of Dermatology Feb 2022
Topics: Humans; Porokeratosis; Skin
PubMed: 34176117
DOI: 10.1111/ijd.15711 -
Dermatopathology (Basel, Switzerland) May 2023Spiny keratoderma (SK) was first described by Brown in 1871 and is characterized by numerous 1-2 mm spines of keratin on the palms and soles, usually sparing the dorsal...
Spiny keratoderma (SK) was first described by Brown in 1871 and is characterized by numerous 1-2 mm spines of keratin on the palms and soles, usually sparing the dorsal surfaces, or disseminated over the trunk. Histologically, the "spine" represents a column of hyperkeratosis. Several different forms are known, including familial, sporadic, post-inflammatory and paraneoplastic. Although an association of SK with melanoma has been reported, the significance of such co-occurrence remains unclear due to the limited number of cases. To increase the body of knowledge and shed further light on this rare condition, we present a case of SK in a patient with a recent history of melanoma in situ.
PubMed: 37218903
DOI: 10.3390/dermatopathology10020021 -
Photodermatology, Photoimmunology &... May 2017Photodynamic therapy (PDT), using topical aminolevulinic acid (ALA), has been used for years to treat a variety of dermatologic conditions, including actinic keratosis,... (Review)
Review
Photodynamic therapy (PDT), using topical aminolevulinic acid (ALA), has been used for years to treat a variety of dermatologic conditions, including actinic keratosis, superficial basal cell carcinoma, and in situ squamous cell carcinoma. While there is a wide range of neoplastic and non-neoplastic skin diseases for which ALA-PDT is used in adults, there is a knowledge gap when it comes to its use in children. This review highlights what is currently known regarding the use and efficacy of this therapy in the pediatric population. A PubMed search was conducted to identify studies including pediatric patients undergoing monotherapy PDT with topical aminolevulinate (published 2005-2016). Twenty pediatric articles were identified. ALA-PDT has been used successfully in children to reduce the number and size of basal cell tumors, inflammatory acne lesions, plantar warts, and linear porokeratoses. ALA-PDT may be an attractive alternative to surgery for children with basal cell nevus syndrome, or to conventional destructive and/or topical methods used for plantar warts or linear porokeratoses. PDT can be considered for inflammatory acne when topical treatments have failed and systemic medications are not an option. Pain associated with treatment and insurance coverage may be a barrier to use.
Topics: Acne Vulgaris; Adolescent; Aminolevulinic Acid; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Photochemotherapy; Photosensitizing Agents; Porokeratosis; Skin Neoplasms; Warts
PubMed: 28130791
DOI: 10.1111/phpp.12296 -
Indian Journal of Dermatology,... 2023
Topics: Humans; Porokeratosis; Buttocks; Biopsy
PubMed: 34245530
DOI: 10.25259/IJDVL_122_2021