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BMJ Case Reports Feb 2024
Topics: Humans; Porokeratosis
PubMed: 38373807
DOI: 10.1136/bcr-2023-259554 -
Journal Der Deutschen Dermatologischen... Apr 2024
Topics: Humans; Porokeratosis; Psoriasis; Cell Transformation, Neoplastic
PubMed: 38372485
DOI: 10.1111/ddg.15338 -
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 -
Dermatology Practical & Conceptual Jan 2024
PubMed: 38364379
DOI: 10.5826/dpc.1401a17 -
Seminars in Diagnostic Pathology Jan 2024The unenlightened clinician may submit a skin specimen to the lab and expect an "answer." The experienced clinician knows that in performing skin biopsies, it is... (Review)
Review
The unenlightened clinician may submit a skin specimen to the lab and expect an "answer." The experienced clinician knows that in performing skin biopsies, it is critical to select the most appropriate: 1) anatomic location for the biopsy; 2) type of biopsy; 3) depth and breadth of the biopsy; and 4) medium for hematoxylin and eosin staining (formalin) or direct immunofluorescence (Michel's Transport Medium or normal saline). Demographic information, anatomic location, clinical context, and differential diagnosis are all critical components of a properly completed requisition form. Proper biopsy design and appropriate grossing of the tissue at the bedside should be added to this list. In this article, we review the basics of gross pathologic examination and then provide four examples to demonstrate that optimal clinical-pathologic correlation requires the clinician consider the needs of the pathologist when tissue is presented to the lab.
PubMed: 38336505
DOI: 10.1053/j.semdp.2024.01.007 -
Cureus Jan 2024Disseminated superficial porokeratosis is a rare dermatological disorder characterized by annular keratotic lesions, presenting diagnostic challenges due to its variable...
Disseminated superficial porokeratosis is a rare dermatological disorder characterized by annular keratotic lesions, presenting diagnostic challenges due to its variable clinical manifestations. The pathogenesis involves genetic predisposition and environmental factors, with mutations in the mevalonate pathway implicated. Despite its benign nature, this condition significantly impacts patients' quality of life, necessitating accurate diagnosis and effective therapeutic strategies. We present the case of a 45-year-old female with a three-year history of annular plaques on sun-exposed areas progressing to involve multiple body regions. The characteristic histopathological finding of coronoid lamellae confirmed the diagnosis of disseminated superficial porokeratosis. Treatment involved a multimodal approach, including topical corticosteroids, calcineurin inhibitors, and systemic retinoids, resulting in satisfactory clinical outcomes. Long-term follow-up emphasized the need for ongoing disease monitoring and patient education regarding sun protection. The presented case underscores the importance of recognizing characteristic histopathological features for accurate diagnosis and highlights the significance of long-term follow-up, disease monitoring, and patient education to optimize outcomes and enhance overall quality of life.
PubMed: 38318598
DOI: 10.7759/cureus.51736 -
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 -
Frontiers in Medicine 2023Porokeratosis, a keratinizing disorder of unknown etiology, exhibits an autosomal dominant inheritance pattern or manifests as an isolated acquired dermatosis. This...
Porokeratosis, a keratinizing disorder of unknown etiology, exhibits an autosomal dominant inheritance pattern or manifests as an isolated acquired dermatosis. This condition can occur at any site on the skin; however, scrotal lesions are extremely rare. Only 18 cases of scrotal lesions were identified through a comprehensive review of the relevant literature. Herein, we present a case of a 19-year-old patient with porokeratosis of the scrotum. Additionally, we provide a summary of the etiologies, clinical manifestations, and histopathology of scrotal porokeratosis, and present differential diagnoses by reviewing the related literature.
PubMed: 38259830
DOI: 10.3389/fmed.2023.1274635 -
The American Journal of Dermatopathology Mar 2024Porokeratotic eccrine ostial and dermal duct nevus is a rare adnexal hamartoma characterized by the presence of a cornoid lamella exclusively overlying eccrine... (Review)
Review
Porokeratotic eccrine ostial and dermal duct nevus is a rare adnexal hamartoma characterized by the presence of a cornoid lamella exclusively overlying eccrine acrosyringia. Different clinical presentations have been reported in the literature. Here, we report a case of a 6-year-old girl diagnosed with porokeratotic eccrine ostial and dermal duct nevus confirmed by histopathologic study. Atypical lesions are described as whitish, warty-looking neoformations located in the anterolateral region of the right hip (cutaneous horn).
Topics: Female; Humans; Child; Keratosis; Porokeratosis; Sweat Glands; Leg; Nevus; Eccrine Glands
PubMed: 38153273
DOI: 10.1097/DAD.0000000000002618 -
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