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Clinical, Cosmetic and Investigational... 2018Porokeratosis is an uncommon disorder of keratinization that presents with keratotic papules or annular plaques that expand centrifugally with a thread-like elevated... (Review)
Review
Porokeratosis is an uncommon disorder of keratinization that presents with keratotic papules or annular plaques that expand centrifugally with a thread-like elevated border. A distinctive histologic structure, the cornoid lamella, is diagnostic of this disorder and consists of a column of parakeratosis with the absence of the granular layer and dyskeratotic cells in the upper spinous zone. Porokeratosis confined to the genitogluteal region is rare and may be subclassified into three types, namely, classical porokeratosis on the genital region, ptychotropic porokeratosis most often seen in the natal cleft and buttocks and penoscrotal porokeratosis that is seen on the penis and adjacent scrotal skin in young men in their third decade of life. Genitogluteal porokeratosis is usually pruritic and may be undiagnosed for several years as it does not resemble classical porokeratosis in many cases; however, a biopsy is diagnostic. In general, response of genital porokeratosis to any modality of treatment is disappointing. No malignant changes have hereto been reported in porokeratosis restricted to the genitogluteal region.
PubMed: 29750048
DOI: 10.2147/CCID.S143085 -
Clinics in Dermatology 2022Annular lichenoid diseases encompass a diverse range of pathologies that present as circular, raised, or flat lesions that may vary in size and number. Examples include...
Annular lichenoid diseases encompass a diverse range of pathologies that present as circular, raised, or flat lesions that may vary in size and number. Examples include annular lichenoid dermatitis of youth, annular lichen planus, erythema dyschromicum perstans, erythema multiforme, fixed drug eruption, lichen sclerosus, neonatal lupus, porokeratosis, subacute cutaneous lupus erythematosus, and lichenoid syphilis. Clinical morphology and histopathology can differentiate these entities.
Topics: Adolescent; Infant, Newborn; Humans; Lichenoid Eruptions; Lichen Planus; Erythema; Lupus Erythematosus, Cutaneous; Erythema Multiforme; Eczema
PubMed: 34979268
DOI: 10.1016/j.clindermatol.2021.12.009 -
JAMA Dermatology May 2023Disseminated superficial actinic porokeratosis (DSAP) is an inherited or sporadic disorder of keratinization associated with germline variations. There is no effective... (Randomized Controlled Trial)
Randomized Controlled Trial
Safety and Efficacy of Topical Lovastatin Plus Cholesterol Cream vs Topical Lovastatin Cream Alone for the Treatment of Disseminated Superficial Actinic Porokeratosis: A Randomized Clinical Trial.
IMPORTANCE
Disseminated superficial actinic porokeratosis (DSAP) is an inherited or sporadic disorder of keratinization associated with germline variations. There is no effective standard of care therapy for DSAP, but treatment with topical lovastatin combined with cholesterol cream has shown promise.
OBJECTIVES
To evaluate and compare the safety and efficacy of topical lovastatin 2% plus cholesterol 2% cream (lovastatin-cholesterol) and topical lovastatin 2% cream (lovastatin) alone in adults diagnosed with DSAP.
DESIGN, SETTING, AND PARTICIPANTS
This patient- and assessor-blinded, randomized clinical trial was conducted at the Medical University of South Carolina between August 3, 2020, and April 28, 2021. Nonpregnant adults with a previous clinical or histological diagnosis of DSAP were eligible. Data were blindly analyzed after study completion.
INTERVENTIONS
Participants were randomized to once- or twice-daily application of either lovastatin-cholesterol cream (n = 17) or lovastatin cream (n = 14) to symptomatic regions for 12 weeks.
MAIN OUTCOMES AND MEASURES
The primary efficacy measure was the effect of the treatment on DSAP at the end of treatment (12 weeks) as measured by the DSAP General Assessment Severity Index (DSAP-GASI; scored from 0-4, with 0 indicating clear and 4 indicating severe). Treatment efficacy was based on investigator-standardized photographs provided by the participants because of the need for evaluation via telehealth during the COVID-19 pandemic. Secondary efficacy measures included patient-reported outcomes, application frequency, and adverse events (AEs).
RESULTS
Of the 87 participants screened, 32 were enrolled. One participant randomized to receive lovastatin-cholesterol did not receive the intervention, leaving 17 participants (mean [range] age, 59.2 [40-83] years; 13 females [76.5%]; all White) allocated to receive lovastatin-cholesterol treatment and 14 participants (13 female [92.9%]; mean (range) age, 53.7 [33-71] years; all White) to receive lovastatin treatment. Twelve participants in each treatment group qualified for the analysis. Disease severity decreased from week 1 to week 12 by 50.0% (from 3.08 [95% CI, 2.57-3.60] to 1.54 (95% CI, 1.04-2.05] points on the DSAP-GASI; P < .001) in the lovastatin-cholesterol group and 51.4% (from 2.92 [95% CI, 2.40-3.43] to 1.50 [95% CI, 0.99-2.01] points; P < .001) in the lovastatin group. There was no significant difference between the treatment groups according to application frequency at the end of 12 weeks. Adverse events reported included myalgia (n = 2), elevation in the creatine kinase level (n = 1), application discomfort (n = 4), and rash (n = 1). No serious AEs occurred, and all participants with an AE were able to complete the study.
CONCLUSIONS AND RELEVANCE
This randomized clinical trial found improvements in DSAP severity in both treatment groups, without serious AEs, indicating a limited benefit with the addition of cholesterol. These results suggest that lovastatin cream may be a new primary treatment option for patients diagnosed with DSAP.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT04359823.
Topics: Adult; Humans; Female; Middle Aged; Lovastatin; Porokeratosis; Pandemics; COVID-19; Treatment Outcome; Emollients; Cholesterol
PubMed: 36947042
DOI: 10.1001/jamadermatol.2023.0205 -
Frontiers in Immunology 2020
Topics: Animals; Autoimmune Diseases; Autoimmunity; Humans; Inflammation; Inflammation Mediators; Keratins; Signal Transduction; Skin; Skin Diseases
PubMed: 32849625
DOI: 10.3389/fimmu.2020.01753 -
Indian Journal of Dermatology,... 2022Porokeratosis is a keratinization disorder with unclear etiopathogenesis, varied clinical presentation and characteristic histopathology, and is usually unresponsive to... (Review)
Review
Porokeratosis is a keratinization disorder with unclear etiopathogenesis, varied clinical presentation and characteristic histopathology, and is usually unresponsive to current therapeutic options. Until now, it was considered to be a clonal disorder with immunity, ultra violet radiation and other factors playing important roles in etiopathogenesis. It is now known that abnormalities in the mevalonate pathway are responsible for this clonal keratinization abnormality. New variants of porokeratosis like eruptive bullous, pruriginous, lichen planus like, follicular variants and porokeratoma have been described. While the cornoid lamella is the classical histopathologic feature, dermoscopy and reflectance confocal microscopy make the diagnosis clearer. Development of malignancy in a few variants is a concern. Linear, disseminated superficial actinic and giant lesions are most prone to developing malignancies. Bowen's disease, squamous cell carcinoma, basal cell carcinoma and even melanoma have been reported in cases of long-standing porokeratosis. Newer modalities of therapy such as photodynamic therapy, ingenol mebutate and HMGCoA inhibitors may play a role in the future.
Topics: Bowen's Disease; Carcinoma, Squamous Cell; Humans; Porokeratosis; Skin Neoplasms; Ultraviolet Rays
PubMed: 34877845
DOI: 10.25259/IJDVL_806_20 -
Der Hautarzt; Zeitschrift Fur... Jul 2020
Topics: Humans; Porokeratosis
PubMed: 32974718
DOI: 10.1007/s00105-020-04641-z -
JAMA Dermatology Jul 2019
Topics: Acitretin; Administration, Cutaneous; Administration, Oral; Adult; Buttocks; Dermatologic Agents; Follow-Up Studies; Humans; Male; Porokeratosis; Pruritus; Retinoids
PubMed: 31090870
DOI: 10.1001/jamadermatol.2019.0602 -
Clinical Reviews in Allergy & Immunology Dec 2023Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant... (Review)
Review
Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant keratosis. This led to introducing the term autoinflammatory keratinization diseases encompassing entities in which monogenic mutations cause spontaneous activation of the innate immunity and subsequent disruption of the keratinization process. Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of CARD14 (generalized pustular psoriasis with concomitant psoriasis vulgaris, palmoplantar pustulosis, type V pityriasis rubra pilaris), IL36RN (generalized pustular psoriasis without concomitant psoriasis vulgaris, impetigo herpetiformis, acrodermatitis continua of Hallopeau), NLRP1 (familial forms of keratosis lichenoides chronica), and genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS (porokeratosis). Since then, endotypes underlying novel entities matching the concept of autoinflammatory keratinization diseases have been discovered (mutations of JAK1, POMP, and EGFR). This review describes the concept and pathophysiology of autoinflammatory keratinization diseases and outlines the characteristic clinical features of the associated entities. Furthermore, a novel term for NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) describing the spectrum of autoinflammatory keratinization diseases secondary to NLRP1 mutations is proposed.
Topics: Humans; Psoriasis; Inflammation; Mutation; Immunity, Innate; Keratosis; Guanylate Cyclase; Membrane Proteins; CARD Signaling Adaptor Proteins; Interleukins
PubMed: 38103162
DOI: 10.1007/s12016-023-08971-3 -
Journal of Cutaneous Medicine and... 2022
Topics: Humans; Porokeratosis
PubMed: 35134308
DOI: 10.1177/12034754221077925