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Medicine Oct 2016Mycosis fungoides (MF) is the most common form of primary cutaneous T cell lymphoma. Narrowband ultraviolet B light (NBUVB) is used increasingly in treating MF because... (Review)
Review
Mycosis fungoides patient accompanied actinic keratosis, actinic keratosis with squamous cell carcinoma transformation, and porokeratosis after NBUVB therapy - 1st case report and review of the literature.
INTRODUCTION
Mycosis fungoides (MF) is the most common form of primary cutaneous T cell lymphoma. Narrowband ultraviolet B light (NBUVB) is used increasingly in treating MF because of its good toleration and well-established management.
CONCERNS
To discuss the risk factors and underlying pathogenic factors in the patients with secondary skin diseases after NBUVB therapy.
METHODS
We report in details the first case of a patient with MF accompanied with actinic keratosis (AK), AK with squamous cell carcinoma (SCC) transformation and porokeratosis after NBUVB therapy. Meanwhile, Sequence variants in tumor suppressor p53 gene in the patient's specimens were detected. A literature search of the key word "narrowband ultraviolet B light "and "side effects" was performed on PubMed, 14 cases of this entity were found. A total of 15 patients including our case were reviewed in this study and meaningful conclusion could be drawn.
OUTCOMES
The mean age at diagnosis of secondary skin dermatoses after NBUVB therapy was 62.08 years with a male to female ratio of 2:1. The cases were reported more in Europeans than in Asians (2.75:1), and the Fitzpatrick skin type was mainly Ito III (12/15). The mean cumulative number and cumulative dose of UVB treatments were 43.71 and 42, 400 (mJ/cm), respectively. There was a positive relationship between Fitzpatrick skin type and cumulative dose of UVB treatments. Among the secondary skin diseases after NBUVB treatment, 12 were tumors, 2 were non-tumorous dermatoses. Only our patient presented with both. By polymerase chain reaction-single nucleotide polymorphism (PCR-SNP) analysis, C-G mutation of exon 4 of p53 was found in AK and MF specimens in our patient.
CONCLUSION
To our knowledge, our case is the first MF patient accompanied with AK, AK with SCC transformation and Porokeratosis after NBUVB treatment. Lower Fitzpatrick skin type may be the risk factor of secondary skin diseases after NBUVB treatment.
Topics: Carcinoma, Squamous Cell; Cell Transformation, Neoplastic; Female; Humans; Keratosis, Actinic; Middle Aged; Mycosis Fungoides; Porokeratosis; Skin Neoplasms
PubMed: 27741114
DOI: 10.1097/MD.0000000000005043 -
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 -
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 -
Actas Dermo-sifiliograficas Jun 2023
Topics: Humans; Porokeratosis; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Imiquimod; Administration, Cutaneous; Cholesterol
PubMed: 36925100
DOI: 10.1016/j.ad.2022.06.025 -
Indian Journal of Dermatology 2021Porokeratosis ptychotropica (PP) is a rare variant of porokeratosis characterized by pruritic, symmetrical, red-brown verrucous papules, and plaques most commonly...
Porokeratosis ptychotropica (PP) is a rare variant of porokeratosis characterized by pruritic, symmetrical, red-brown verrucous papules, and plaques most commonly localized within the gluteal fold. Herein, we report the clinical, dermoscopy, and reflectance confocal microscopy (RCM) aspects of a case of PP in a 63-year-old Caucasian woman along with histopathological correlation. Both dermoscopy and RCM were able to recognize the , the histopathological clue shared by all clinical variants of porokeratosis. These non-invasive techniques may help in the differential diagnosis with other inflammatory/infectious and neoplastic disorders that may clinically resemble PP, but show distinct patterns.
PubMed: 35068510
DOI: 10.4103/ijd.ijd_894_20 -
Indian Journal of Dermatology 2015We present a case of a 64-year-old uncircumcised male who initially presented to the provider with a 1 year history of a solitary lesion on the glans penis that was...
We present a case of a 64-year-old uncircumcised male who initially presented to the provider with a 1 year history of a solitary lesion on the glans penis that was clinically diagnosed as porokeratosis of Mabelli. A biopsy on a follow-up visit confirmed provider's clinical suspicion. This article highlights the progression and treatment options for porokeratosis on the male genitalia.
PubMed: 25814761
DOI: 10.4103/0019-5154.152587 -
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 -
Open Access Macedonian Journal of... Jan 2018Porokeratosis is characterised by one or more atrophic patches surrounded by a distinctive peripheral keratotic ridge, typically found on sun-exposed areas, with several...
BACKGROUND
Porokeratosis is characterised by one or more atrophic patches surrounded by a distinctive peripheral keratotic ridge, typically found on sun-exposed areas, with several clinical variants and typical histological findings. Despite ultraviolet radiation, varies antibody - related autoimmune disease treated with systemic steroids and other immunosuppressive conditions such as chronic liver disease, HIV and organ transplantations have been implicated in its etiopathology.
CASE REPORT
We present a case of porokeratosis, associated with idiopathic thrombocytopenia in 74 - year old, otherwise healthy male patient, as we discuss the previously reported associated disorders.
CONCLUSION
Regarding all of the polymorphism of clinical presentation, associated disorders and treatment responses, we could conclude that disseminated porokeratosis is still an unknown well disorder, which will continue to surprise the physicians in future. The screening and follow up of the patients is mandatory in all cases because as we see, porokeratosis has multiple unexpected faces, which require circumstantial clinical and paraclinical behaviour.
PubMed: 29484012
DOI: 10.3889/oamjms.2018.017