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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 -
The Journal of Clinical and Aesthetic... Apr 2023No known studies have attempted to describe the pathophysiological relationship between patients who develop both porokeratosis and hidradenitis suppurativa (HS). The...
OBJECTIVE
No known studies have attempted to describe the pathophysiological relationship between patients who develop both porokeratosis and hidradenitis suppurativa (HS). The purpose of this report is to present possible immunological mechanisms that predispose patients to developing both porokeratosis and HS.
METHODS
In this case series, patients were identified during routine clinical encounters and data was extracted from the electronic medical record from October 2010 until April 2021. This study is a single center case series including patients from the department of dermatology at the UNC School of Medicine in Chapel Hill, North Carolina. Patients were selected via digital chart review if they had simultaneous diagnoses of disseminated porokeratosis and HS. Two eligible patients were identified as actively receiving care. One patient is a Black female and the other a White male. No primary study outcomes were planned. This investigation utilized chart review to identify disease time course, which was subsequently used to elucidate study outcomes.
RESULTS
Patient A is a 54-year-old Black female and Patient B is a 65-year-old White male. Both patients developed porokeratosis after multiple years of living with HS. Immunosuppression with adalimumab, corticosteroids, or other medications did not clearly precede porokeratosis development in either patient.
LIMITATIONS
Limitations include that this study was conducted at a single center and prevalence of patients with concomitance of both conditions is low.
CONCLUSION
In patients who demonstrate simultaneous HS and porokeratosis, activation of the innate immune system and associated IL-1 production may lead to autoinflammation and a phenotype of hyperkeratinization. Mutations in genes such as mevalonate kinase may predispose subjects to the development of porokeratoses and HS.
PubMed: 37077926
DOI: No ID Found -
Dermatologic Therapy Jan 2021Porokeratosis is a rare disorder characterized by atrophic macules or patches, with a well-defined ridge-like hyperkeratotic border called cornoid lamella. Although the... (Review)
Review
Porokeratosis is a rare disorder characterized by atrophic macules or patches, with a well-defined ridge-like hyperkeratotic border called cornoid lamella. Although the exact pathogenesis is unknown, drug associated cases have recently been reported in the literature. As such, we systematically reviewed and identified drugs associated with drug-induced porokeratosis, their resultant effects, and whether there was a casual relationship between the use of a drug and the development of porokeratosis. We searched for articles which reported drug-induced porokeratosis in MEDLINE and Embase in June 2020. After full-text review, 25 studies were included for analysis. We identified 26 patients with drug-induced porokeratosis. The most common therapies associated with development of porokeratosis is biologic use, phototherapy, and radiotherapy. The most common clinical variants were the disseminated superficial or actinic types (60%), which occurred in psoriasis patients undergoing phototherapy, and eruptive disseminated type (24%) which occurred in the context of biologic therapies. The Naranjo score ranged from possible to probable for the identified treatments. Clinicians should consider drug reactions as possible triggering events for porokeratosis, especially for patients taking biologics, phototherapy, and radiotherapy. Large-scale studies are required to confirm our findings and further explore the pathogenesis for drug-induced porokeratosis.
Topics: Exanthema; Humans; Pharmaceutical Preparations; Phototherapy; Porokeratosis; Psoriasis
PubMed: 33210788
DOI: 10.1111/dth.14560 -
Actas Dermo-sifiliograficas Jun 2024
PubMed: 38852842
DOI: 10.1016/j.ad.2023.08.020 -
Dermatology Practical & Conceptual Oct 2020
PubMed: 33150040
DOI: 10.5826/dpc.1004a112