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World Journal of Clinical Cases Nov 2022Porokeratosis (PK) is a common autosomal dominant chronic progressive dyskeratosis with various clinical manifestations. Based on clinical manifestations, porokeratosis...
BACKGROUND
Porokeratosis (PK) is a common autosomal dominant chronic progressive dyskeratosis with various clinical manifestations. Based on clinical manifestations, porokeratosis can be classified as porokeratosis of mibelli, disseminated superficial porokeratosis, disseminated superficial actinic porokeratosis, linear porokeratosis (LP), porokeratosis palmaris et plantaris disseminata, porokeratosis punctata, popular PK, hyperkeratosis PK, inflammatory PK, verrucous PK, and mixed types. We report a case of LP in a child and describe its dermoscopic findings.
CASE SUMMARY
Linear porokeratosis is a rare PK. The patient presented with unilateral keratinizing maculopapular rash of the foot in childhood. The patient underwent skin pathology and dermoscopy, and was treated with liquid nitrogen freezing and topical drugs.
CONCLUSION
From this case we take-away that LP is a rare disease, by the dermoscopic we can identify it.
PubMed: 36387824
DOI: 10.12998/wjcc.v10.i31.11585 -
Dermatology Online Journal Apr 2020Porokeratosis is a heterogeneous group of dermatoses with alterations of keratinization. Histologically, they are characterized by the presence of cornoid lamellae.... (Review)
Review
Porokeratosis is a heterogeneous group of dermatoses with alterations of keratinization. Histologically, they are characterized by the presence of cornoid lamellae. Eruptive pruritic papular porokeratosis (EPPP) or the inflammatory form of disseminated superficial porokeratosis (or eruptive disseminated porokeratosis) is an infrequent variant, characterized by pruritic erythematous papules or annular lesions. We present a 72-year-old woman with EPPP, exhibited by pruritic lesions on the extremities and back, and review the literature concerning this condition. We found 32 cases of EPPP or inflammatory disseminated superficial porokeratosis (including the current case) reported in the literature, with a median age of 66 years (range, 13-84); 59.3% were men. Eruptive pruritic papular porokeratosis was associated with various neoplasms in 31.2% of cases. Six patients had an associated viral infection. Response to treatment was poor in most cases. Eruptive pruritic papular porokeratosis resolved spontaneously in 75% of cases. Median time to resolution was 6 months (range, 1-24). Eruptive pruritic papular porokeratosis (or inflammatory disseminated superficial porokeratosis/eruptive disseminated porokeratosis) is an infrequent variant of porokeratosis characterized by intense pruritus and spontaneous resolution in most individuals. Eruptive pruritic papular porokeratosis can be associated with neoplasms and screening for malignancies is recommended if clinically indicated.
Topics: Aged; Female; Humans; Male; Middle Aged; Porokeratosis; Pruritus; Remission, Spontaneous; Skin
PubMed: 32621680
DOI: No ID Found -
Acta Dermato-venereologica Feb 2021Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous...
Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to be the patho-genetic mechanism for the development of the lesions. However, the molecular mechanism leading to development of porokeratosis plantaris, palmaris et disseminata is not known. This study analysed a cohort of 4 patients with linear porokeratosis and 3 patients with porokeratosis plantaris, palmaris et disseminata, and performed mutation analyses of DNA extracted from blood samples and skin biopsies. All of the study patients carried the heterozygous germline variant c.70+5G>A in the MVD gene. Loss of heterozygosity due to a second hit mutation was found in affected skin of 3 patients with linear porokeratosis and 2 patients with porokeratosis plantaris, palmaris et disseminata. These results suggest that porokeratosis plantaris, palmaris et disseminata shares the same pathogenetic mechanism as other porokeratosis subtypes and belongs to the phenotypic spectrum of MVD-associated porokeratosis.
Topics: DNA Mutational Analysis; Genitalia; Humans; Mutation; Porokeratosis; Skin
PubMed: 33491095
DOI: 10.2340/00015555-3753 -
Human Heredity 2023Porokeratosis is a rare chronic progressive hypokeratotic skin disease, possibly related to the mevalonate pathway. Variations in four enzymes, including...
BACKGROUND
Porokeratosis is a rare chronic progressive hypokeratotic skin disease, possibly related to the mevalonate pathway. Variations in four enzymes, including phosphomevalonate kinase (PMVK) may alter this pathway, ultimately leading to porokeratosis.
OBJECTIVES
The aim of the study was to identify the causative gene variant of porokeratosis in a Chinese family and investigate its population frequency and pathogenicity.
METHOD
In this study, Sanger sequencing was used to identify the gene variant causative of porokeratosis; its population frequency was investigated by polymerase chain reaction-restriction fragment length polymorphism in 4 patients and three normal individuals as well as in 100 normal unrelated controls; finally, the pathogenicity of the mutation and the associated structural changes were predicted.
RESULTS
We identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in the PMVK gene. This variant was found in all patients but not in the normal individuals in this family or in the 100 controls. In silico analysis indicated that the variant was pathogenic; p.Lys69Asn changed the length of the α-helix and the hydrogen bond pattern compared with the wild-type protein.
CONCLUSIONS
The novel variant c.207G>T (p. Lys69Asn) in the PMVK gene was the causative variant in this porokeratosis family. This finding provides further evidence for the genetic basis of this disease.
Topics: Humans; Porokeratosis; Mutation; Phosphotransferases (Phosphate Group Acceptor); Mutation, Missense; Pedigree
PubMed: 37315547
DOI: 10.1159/000531120 -
Dermatology Online Journal Mar 2018Genitogluteal porokeratosis is a disorder of keratinization that may present in men in their fourth decade of life. We describe a 52-year-old human immunodeficiency... (Review)
Review
Genitogluteal porokeratosis is a disorder of keratinization that may present in men in their fourth decade of life. We describe a 52-year-old human immunodeficiency virus (HIV)-positive man with history of anal squamous cell carcinoma who developed verrucous lesions on the buttocks and genitals. The buttock lesions presented shortly after radiotherapy for anal carcinoma a decade prior, whereas the genital lesions presented three months prior in areas treated with injectable medication for erectile dysfunction. Skin biopsy revealed a cornoid lamella, leading to the diagnosis of genitogluteal porokeratosis. The buttock lesions were treated with shave excision and the genital lesions were treated with topical agents. Using the PubMed database, a literature search was performed with combinations of the following key words: acuminata, condyloma, cornoid lamella, genital, genitogluteal, HIV, penile, porokeratosis, verrucous, vulvar. The generated papers and their references were reviewed. To the best of our knowledge, we present the first reported case of genitogluteal porokeratosis in an HIV-positive man. Notably, these lesions developed in sites of prior radiation or injection. This condition should be included in the differential diagnosis of chronic lesions of the genitals and buttocks in patients with HIV and/or history of radiation treatment and/or trauma to the genitogluteal region.
Topics: Biopsy; Buttocks; Diagnosis, Differential; HIV Seropositivity; Humans; Male; Middle Aged; Penis; Porokeratosis; Scrotum; Skin
PubMed: 29634882
DOI: No ID Found -
International Journal of Clinical and... 2022Porokeratosis is a disorder of keratinization with many clinical variants. The histological hallmark feature of porokeratosis is a cornoid lamella. Other accompanying...
Porokeratosis is a disorder of keratinization with many clinical variants. The histological hallmark feature of porokeratosis is a cornoid lamella. Other accompanying features include lichenoid inflammation, atrophy towards the centre of the lesion, dermal cytoid bodies, and adjacent lichenoid changes. Lichenoid keratosis is a benign cutaneous condition, thought to largely represent a degenerating seborrheic keratosis or solar lentigo. The classical histologic appearances are characterized by parakeratosis, epidermal acanthosis, and a dense band of lichenoid lymphocytic infiltrate. Since a lichenoid inflammatory reaction pattern can be seen in porokeratosis it has the potential to be misdiagnosed as a lichenoid keratosis if the cornoid lamella is not identified or missed due to sampling selection. We critically review 104 cases of benign lichenoid keratosis to establish whether any of these cases had features to support a diagnosis of porokeratosis. With 9.6% of cases considered for re-classification, we review clues to reaching this histologic diagnosis.
PubMed: 35265253
DOI: No ID Found -
Medicine Nov 2022Porokeratosis ptychotropica represents an unusual form of porokeratosis characterized by symmetrical dyskeratotic skin lesions on the gluteal clefts. Herein, we report a...
RATIONALE
Porokeratosis ptychotropica represents an unusual form of porokeratosis characterized by symmetrical dyskeratotic skin lesions on the gluteal clefts. Herein, we report a case of porokeratosis ptychotropica.
PATIENT CONCERNS
A 33-year-old man, who complained of itching papules and plaques in the gluteal cleft and the buttocks for the last 7 years. Clinical examination showed a large well-defined reddish brown verrucous plaque located on both buttocks along with satellite papules on the inner thigh. Dermoscopy and histopathological findings were consistent with porokeratosis.
DIAGNOSIS
He was diagnosed with porokeratosis ptychotropica.
OUTCOMES
No significant improvement was observed following treatment with oral acitretin and a topical retinoid.
LESSONS
The case report highlights the need for awareness amongst dermatologists for porokeratosis ptychotropica as a differential diagnosis for pruritic papules in the gluteal fold.
Topics: Male; Humans; Adult; Porokeratosis; Buttocks; Thigh; Acitretin; Pruritus; Plaque, Amyloid
PubMed: 36451470
DOI: 10.1097/MD.0000000000032074 -
Cureus Jul 2022Linear porokeratosis is a cutaneous disorder that typically presents in a unilateral linear formation. While the exact cause of linear porokeratosis is unknown, it is...
Linear porokeratosis is a cutaneous disorder that typically presents in a unilateral linear formation. While the exact cause of linear porokeratosis is unknown, it is thought to be a downstream effect of disrupted cholesterol synthesis and mevalonate accumulation. Our patient is a 61-year-old male with an unusual case presentation of bilateral linear porokeratosis. He had failed numerous standard therapies. Pathologic examination of a skin biopsy was consistent with bilateral linear porokeratosis. Through a PubMed search, there have been limited reported cases of unilateral linear porokeratosis, but there have not been any reported cases of bilateral linear porokeratosis. There are currently limited therapies with satisfactory outcomes for variants of porokeratosis. While there are some studies on the topical application of cholesterol/lovastatin, limited studies have been performed on the linear form. Our study evaluates the efficacy of compounded topical cholesterol 2%/lovastatin 2% ointment on bilateral linear porokeratosis. The patient demonstrated a significant reduction of porokeratotic lesions on the treated arm compared to the untreated arm. Cholesterol/lovastatin is alternative therapy that can be considered in the treatment of linear porokeratosis and other porokeratosis variants.
PubMed: 36060323
DOI: 10.7759/cureus.27540 -
Journal of Family Medicine and Primary... Mar 2022Porokeratosis is a keratinization disorder characterized by hyperkeratotic sharply demarcated plaques with central atrophy and histopathologically, by cornoid lamella. A...
Porokeratosis is a keratinization disorder characterized by hyperkeratotic sharply demarcated plaques with central atrophy and histopathologically, by cornoid lamella. A 30-year-old male presented with multiple pruritic dark raised skin lesions over the trunk, face, and upper limbs for past 3 years. Cutaneous examination revealed hyperkeratotic annular plaques with raised margins over face, trunk, and arms. Histopathology revealed marked hyperkeratosis with irregular acanthosis and papillomatosis. Vertical parakeratotic foci and focal hypergranulosis were seen. Hence, a diagnosis of disseminated superficial porokeratosis was made. We present this rare case which may have association with systemic disease, immunosuppression, and malignant transformation.
PubMed: 35495808
DOI: 10.4103/jfmpc.jfmpc_1232_21 -
Indian Dermatology Online Journal 2015
PubMed: 26753153
DOI: No ID Found