-
Frontiers in Pharmacology 2022Photodynamic therapy (PDT) is a photochemotherapy based on local application of a photosensitive compound and subsequent exposure to a light source of adequate... (Review)
Review
Photodynamic therapy (PDT) is a photochemotherapy based on local application of a photosensitive compound and subsequent exposure to a light source of adequate wavelength. It is a non-invasive therapeutic procedure widely used in oncodermatology for treatment of numerous skin cancers, but in the last years its use has been gradually extended to an increasing list of skin diseases of both infectious and inflammatory nature. Although PDT is proven as a safe and effective therapeutic option in adults, its use is not well standardized in the pediatric population. In this review, we will focus on clinical applications, mechanisms of action, protocols, and adverse events in children and adolescents. Most of pediatric experiences concerned treatment of skin cancers in Gorlin syndrome and xeroderma pigmentosum, acne vulgaris, and viral warts, but other applications emerged, such as cutaneous lymphoma and pseudo-lymphomas, necrobiosis lipoidica, hidradenitis suppurativa, dissecting cellulitis, leishmaniasis, angiofibromas, verrucous epidermal nevus, and linear porokeratosis. In these pediatric diseases, PDT appeared as an effective therapeutic alternative. The results on vitiligo were limited and not fully encouraging. Although highly versatile, PDT is not a therapy for all skin diseases, and a deeper knowledge of its mechanisms of action is required to better define its spectrum of action and safety in pediatric patients.
PubMed: 36052131
DOI: 10.3389/fphar.2022.879380 -
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 -
Dermatology Online Journal Nov 2010A 62-year-old woman with psoriasis and psoriatic arthritis presented for evaluation and treatment of a one-week history of pruritic, pink spots on her trunk and...
A 62-year-old woman with psoriasis and psoriatic arthritis presented for evaluation and treatment of a one-week history of pruritic, pink spots on her trunk and extremities. Several weeks prior, therapy with certolizumab pegol and methotrexate was started for her psoriatic arthritis. A biopsy specimen was consistent with the diagnosis of porokeratosis. Owing to the setting of immunosuppression and presence of symmetric pruritic lesions on non-sun exposed areas, the diagnosis of disseminated superficial porokeratosis was made.
Topics: Antibodies, Monoclonal, Humanized; Arthritis, Psoriatic; Biopsy; C-Reactive Protein; Certolizumab Pegol; Female; Humans; Immunoglobulin Fab Fragments; Immunosuppressive Agents; Methotrexate; Middle Aged; Neutrophils; Polyethylene Glycols; Porokeratosis; Treatment Outcome
PubMed: 21163171
DOI: No ID Found -
Actas Dermo-sifiliograficas Jun 2017We present a series of 6 cases of disseminated superficial actinic porokeratosis and describe their dermoscopic features. Dermoscopy is a noninvasive in vivo technique...
We present a series of 6 cases of disseminated superficial actinic porokeratosis and describe their dermoscopic features. Dermoscopy is a noninvasive in vivo technique that is useful as a tool for the diagnosis and follow-up of porokeratosis. This condition has specific dermoscopic features that were observed in our series of cases and that are consistent with reports in the international literature.
Topics: Adult; Biopsy; Dermoscopy; Diagnosis, Differential; Female; Humans; Male; Middle Aged; Porokeratosis; Precancerous Conditions
PubMed: 27015657
DOI: 10.1016/j.ad.2015.09.025 -
Actas Dermo-sifiliograficas Apr 2008Porokeratosis is a primary disorder of epidermal keratinization. The term covers several clinical variants that have in common the presence of a cornoid lamella in... (Review)
Review
INTRODUCTION
Porokeratosis is a primary disorder of epidermal keratinization. The term covers several clinical variants that have in common the presence of a cornoid lamella in histological studies. Although porokeratotic lesions may appear anywhere on the skin, genital lesions are uncommon and may occur in cases of generalized porokeratosis with genital involvement or be localized to the genital area.
CASE DESCRIPTION
We describe a 47-year-old man with a solitary porokeratotic plaque on the scrotum. He had no other lesions at other sites or relevant personal or familial history.
DISCUSSION
Porokeratosis confined to the genitals is extremely uncommon. Only 23 cases have been reported in the literature. We undertook a clinical, epidemiological, and therapeutic review, compiling the distinctive characteristics of this rare entity.
Topics: Genital Diseases, Male; Humans; Male; Middle Aged; Porokeratosis; Scrotum
PubMed: 18358198
DOI: 10.1016/s0001-7310(08)74659-3 -
Indian Dermatology Online Journal 2023
PubMed: 37521240
DOI: 10.4103/idoj.idoj_408_22 -
Genes & Diseases Jul 2022Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate... (Review)
Review
Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (). Their clinical manifestations are highly variable, ranging from more or less serious systemic disorders, such as hereditary recurrent fevers, to purely localized pathologies such as porokeratosis. The oldest condition identified as linked to this gene is a metabolic disease called mevalonic aciduria, and the most recent is disseminated superficial actinic porokeratosis, a disease limited to the skin. The modes of inheritance of MK-associated diseases also diverge among the different subtypes: recessive for the systemic subtypes and dominant with a post-zygotic somatic genetic alteration for -associated porokeratosis. This review quickly retraces the historical steps that led to the description of the various MK-associated disease phenotypes and to a better understanding of their pathophysiology, then summarizes and compares the different genetic mechanisms involved in this group of disorders, and finally discusses the diverse causes that could underlie this phenotypic heterogeneity.
PubMed: 35685471
DOI: 10.1016/j.gendis.2021.05.002 -
Indian Journal of Dermatology,... 2016
Topics: Adult; Facial Dermatoses; Female; Humans; Male; Porokeratosis; Sunlight; Young Adult
PubMed: 27088949
DOI: 10.4103/0378-6323.174391 -
Postepy Dermatologii I Alergologii Feb 2021
PubMed: 34408586
DOI: 10.5114/ada.2021.104293 -
Journal of Clinical Medicine Apr 2021Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene () and encompass several phenotypically different rare and...
Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene () and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mevalonic aciduria, and the most recently recognized is disseminated superficial actinic porokeratosis, a dominant disease limited to the skin. To evaluate a possible correlation between genotypes and (1) the different MKAD clinical subtypes or (2) the occurrence of severe manifestations, data were reviewed for all patients with variants described in the literature (N = 346), as well as those referred to our center (N = 51). The genotypes including p.(Val377Ile) (homozygous or compound heterozygous) were more frequent in mild systemic forms but were also sometimes encountered with severe disease. We confirmed that amyloidosis was more prevalent in patients compound heterozygous for p.(Ile268Thr) and p.(Val377Ile) than in others and revealed new associations. Patients homozygous for p.(Leu264Phe), p.(Ala334Thr) or compound heterozygous for p.(His20Pro) and p.(Ala334Thr) had increased risk of severe neurological or ocular symptoms. All patients homozygous for p.(Leu264Phe) had a cataract. The variants associated with porokeratosis were relatively specific and more frequently caused a frameshift than in patients with other clinical forms (26% vs. 6%). We provide practical recommendations focusing on phenotype-genotype correlation in MKAD that could be helpful for prophylactic management.
PubMed: 33917151
DOI: 10.3390/jcm10081552