-
Actas Dermo-sifiliograficas Feb 2024
Review
Topics: Male; Humans; Porokeratosis; Scrotum; Buttocks
PubMed: 36423675
DOI: 10.1016/j.ad.2022.06.023 -
Acta Dermato-venereologica Oct 2023is missing (Short communication).
is missing (Short communication).
Topics: Humans; Porokeratosis; Basophils; Interleukins; Pruritus
PubMed: 37815092
DOI: 10.2340/actadv.v103.6560 -
Inflammation Aug 2023The mevalonate-diphosphate decarboxylase (MVD) gene, a member of the mevalonate pathway, plays a critical role in regulating the biosynthesis of cholesterol, steroid...
The mevalonate-diphosphate decarboxylase (MVD) gene, a member of the mevalonate pathway, plays a critical role in regulating the biosynthesis of cholesterol, steroid hormones, and non-steroid isoprenoids. Previous studies have suggested that the MVD c.746 T > C mutation is a major pathogenic gene of porokeratosis (PK), an autoinflammatory keratinization disease (AIKD) with unclear pathogenesis, few effective treatments, and no suitable animal model. To investigate the function of Mvd mutation, we developed a novel Mvd mouse model carrying an equivalent point mutation to the most common genetic variation among Chinese PK patients (MVD) using CRISPR/Cas9 technology, which exhibited reduced cutaneous expression of Mvd protein. In the absence of external stimulation, Mvd mice did not display specific phenotypes. However, upon induction with imiquimod (IMQ), Mvd mice exhibited decreased susceptibility to skin acute inflammation compared to wild-type (WT) mice, as evidenced by reduced cutaneous proliferation and lower protein levels of IL-17a and IL-1β. Additionally, after IMQ induction, the Mvdmice exhibited downregulated collagen generation and upregulated expression of Fabp3 compared to WT mice, whereas no significant changes in the key genes related to cholesterol regulation were found. Furthermore, the Mvd mutation activated autophagy. Our findings provided insights into the biological function of MVD in the skin.
Topics: Mice; Animals; Imiquimod; Mevalonic Acid; Aminoquinolines; Psoriasis; Skin; Inflammation; Disease Models, Animal; Mice, Inbred BALB C
PubMed: 37227548
DOI: 10.1007/s10753-023-01828-z -
Clinical, Cosmetic and Investigational... 2024Porokeratosis (PK) is a chronic autosomal-dominant cutaneous keratinization disorder exhibiting clinical and genetic heterogeneity. Mevalonate decarboxylase (), farnesyl...
PURPOSE
Porokeratosis (PK) is a chronic autosomal-dominant cutaneous keratinization disorder exhibiting clinical and genetic heterogeneity. Mevalonate decarboxylase (), farnesyl diphosphate synthase (), phosphomevalonate kinase(), and mevalonate kinase genes(), 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 stop-gain mutation c.438T>G (p.Tyr146Ter), a novel missense mutation c.683G>C (p.R228P), and three previously reported mutations: c.746T>C (p.F249S), c.875A>G (p.N292S), and c.1111_1113del (p.371_371del). The novel c.438T>G mutation was predicted as "disease-causing" (p = 1) by Mutation Taster. The other novel 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.
PubMed: 38283795
DOI: 10.2147/CCID.S444985 -
JAAD Case Reports Sep 2023
PubMed: 37693926
DOI: 10.1016/j.jdcr.2023.06.043 -
Actas Dermo-sifiliograficas Apr 2024
Topics: Humans; Porokeratosis; Biopsy
PubMed: 37150245
DOI: 10.1016/j.ad.2022.07.037 -
Indian Journal of Dermatology 2023Psoriasis and porokeratosis are two common skin diseases. Nevertheless, the occurrence of comorbidity is rare. To the best of our knowledge, these kinds of clinical...
Psoriasis and porokeratosis are two common skin diseases. Nevertheless, the occurrence of comorbidity is rare. To the best of our knowledge, these kinds of clinical histopathologic features of comorbidity were rarely reported previously. Here, we describe a case of a 75-year-old patient who presented with diffused porokeratosis in association with psoriasis.
PubMed: 38371558
DOI: 10.4103/ijd.ijd_484_22 -
Clinical, Cosmetic and Investigational... 2023Eruptive pruritic papular porokeratosis (EPPP) is a rare subtype of porokeratosis that presents as an acute exacerbation of an annular papule with a distinct peripheral...
Eruptive pruritic papular porokeratosis (EPPP) is a rare subtype of porokeratosis that presents as an acute exacerbation of an annular papule with a distinct peripheral hyperkeratotic ridge border and severe pruritus. EPPP is mainly reported in elderly East Asian men. Its etiology and pathogenesis are unknown. We hereby present a case report of EPPP in a 68-year-old Chinese male with persistent circumscribed papules on the extremities, accompanied by severe pruritus for one year. After the patient was given conventional medication, a new rash appeared on the patient's extremities and he felt intense itching in the area of the rash. The patient was switched to oral tofacitinib treatment. The patient felt that the pruritus had largely disappeared after one month of oral dosing, leaving only brown pigmentation on the erythema of the extremities. The patient has been off the drug for 2 months. There was no pruritus or new rash during the follow-up period.
PubMed: 37435395
DOI: 10.2147/CCID.S412495 -
Journal Der Deutschen Dermatologischen... Apr 2024
Topics: Humans; Porokeratosis; Psoriasis; Cell Transformation, Neoplastic
PubMed: 38372485
DOI: 10.1111/ddg.15338 -
Clinical, Cosmetic and Investigational... 2024Porokeratosis (PK), characterized by keratotic lesions with an atrophic center and a prominent peripheral ridge, with a typical histological hallmark, namely, the...
Porokeratosis (PK), characterized by keratotic lesions with an atrophic center and a prominent peripheral ridge, with a typical histological hallmark, namely, the cornoid lamella, has two forms: disseminated and localized. While PK often converts into squamous cell carcinoma (SCC), conversion from disseminated superficial porokeratosis (DSP) alone is rarely reported except for one case in which DSP and LP coexisted and converted to SCC. Here, we report the case of a patient with SCC converted from DSP alone, presenting with coin-sized macules on the bottom right of his waist that developed into an ulcer at the center. The patient underwent radiation therapy, which effectively treated the SCC but did not resolve the PK. This article highlights regular follow-up and undergo comprehensive diagnosis, both of which are beneficial to enable early detection and management of DSP that has converted to into SCC; in addition, standardized medical treatment may help improve the treatment therapeutic effect of in similar diseases.
PubMed: 38827628
DOI: 10.2147/CCID.S463569