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ELife Jul 2015Porokeratosis (PK) is a heterogeneous group of keratinization disorders. No causal genes except MVK have been identified, even though the disease was linked to several...
Porokeratosis (PK) is a heterogeneous group of keratinization disorders. No causal genes except MVK have been identified, even though the disease was linked to several genomic loci. Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway. Allelic expression imbalance (AEI) assays were performed in 13 lesional tissues. At least one mutation in one of the four genes in the mevalonate pathway was found in 60 (98%) familial and 53 (73%) sporadic patients, which suggests that isoprenoid biosynthesis via the mevalonate pathway may play a role in the pathogenesis of PK. Significantly reduced expression of the wild allele was common in lesional tissues due to gene conversion or some other unknown mechanism. A G-to-A RNA editing was observed in one lesional tissue without AEI. In addition, we observed correlations between the mutations in the four mevalonate pathway genes and clinical manifestations in the PK patients, which might support a new and simplified classification of PK under the guidance of genetic testing.
Topics: Carboxy-Lyases; Geranyltranstransferase; High-Throughput Nucleotide Sequencing; Humans; Metabolic Networks and Pathways; Mevalonic Acid; Mutant Proteins; Phosphotransferases (Alcohol Group Acceptor); Phosphotransferases (Phosphate Group Acceptor); Porokeratosis
PubMed: 26202976
DOI: 10.7554/eLife.06322 -
Dermatology Online Journal Feb 2020Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as 'comedo nevus' and renamed 'PEODDN'; it has also been referred to... (Review)
Review
Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as 'comedo nevus' and renamed 'PEODDN'; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair follicle nevus, and porokeratotic adnexal ostial nevus. PEODDN is usually present at birth or develops early in life. Rarely, PEODDN can develop in adults. The treatment of this puzzling condition is not standardized. We report herein a new case of adultonset PEODDN with dermatoscopic images. Our patient responded favorably to topical tazarotene.
Topics: Administration, Topical; Adolescent; Adult; Aged; Dermatologic Agents; Eccrine Glands; Female; Humans; Male; Nevus, Intradermal; Nicotinic Acids; Porokeratosis; Skin Neoplasms; Sweat Gland Diseases
PubMed: 32239895
DOI: No ID Found -
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 -
Medicine Jan 2020Giant porokeratosis is considered to be a variant of porokeratosis of Mibelli (PM) by some medical scholars. Porokeratosis can develop into several epidermal malignant...
RATIONALE
Giant porokeratosis is considered to be a variant of porokeratosis of Mibelli (PM) by some medical scholars. Porokeratosis can develop into several epidermal malignant tumors, such as Bowen disease and basal cell carcinoma, among which squamous cell carcinoma (SCC) is the most common.
PATIENT CONCERNS
The patient was a 53-year-old man who was admitted to our hospital due to postoperative recurrence and metastasis as SCC arising from giant PM in his left leg and foot.
DIAGNOSES
The pathological results are porokeratosis and well-differentiated squamous cell carcinoma. Positron emission tomography and computed tomography results show the local recurrence of the tumor with multiple lymph node metastasis.
INTERVENTIONS
This patient was transferred to orthopedic surgery for amputation of the middle and lower left thigh.
OUTCOMES
Follow-up for 3 months has shown no recurrence after the surgery.
LESSONS
This report reminds us to pay close attention to the likelihood of giant porokeratosis. The physicians should explore all clinical possibilities to avoid misdiagnosis of this rare disease.Although the recurrence rate of SCC arising from giant PM is very low, the surgical resection region should be expanded appropriately such as the en-block resection.
Topics: Carcinoma, Squamous Cell; Humans; Lymphatic Metastasis; Male; Middle Aged; Neoplasm Recurrence, Local; Porokeratosis; Positron-Emission Tomography; Tomography, X-Ray Computed
PubMed: 31914072
DOI: 10.1097/MD.0000000000018697 -
Anais Brasileiros de Dermatologia 2016Porokeratosis is a disorder of epidermal keratinization characterized clinically by a distinctive ridge-like border, and histologically by cornoid lamellae. The known...
Porokeratosis is a disorder of epidermal keratinization characterized clinically by a distinctive ridge-like border, and histologically by cornoid lamellae. The known clinical variants of porokeratosis are: classic porokeratosis of Mibelli, disseminated superficial (actinic) porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata, linear porokeratosis and punctate porokeratosis. In 1995, a seventh form was described as porokeratosis ptychotropica: a verrucous form resembling psoriasis involving the gluteal cleft presenting on the histological exam multiple cornoid lamellae. There are very few reports in the literature of this clinical variant. The present study describes the case of a healthy male presenting gluteal hyperkeratotic plaques for 22 years. He had been to several dermatologists, none of them had achieved a definitive diagnosis. We present a typical clinical presentation and its dermoscopy findings, in addition to histological examination that confirmed the diagnosis.
Topics: Adult; Biopsy; Buttocks; Dermoscopy; Humans; Male; Porokeratosis
PubMed: 27579746
DOI: 10.1590/abd1806-4841.20164397 -
Indian Dermatology Online Journal 2016A dermatoscope is an important tool in a dermatologist's armamentarium as it can eliminate the need for a biopsy in a wide array of conditions. Porokeratosis was...
A dermatoscope is an important tool in a dermatologist's armamentarium as it can eliminate the need for a biopsy in a wide array of conditions. Porokeratosis was described by Mibelli and Respighi in 1893, as a disorder of keratinization which on the basis of distribution patterns was described as five clinical variants that portrayed a coronoid lamella on histopathology. We describe a case of asymptomatic, long-standing palmar and plantar pits, which on dermatoscopy showed features suggestive of porokeratosis, which was later reconfirmed by histopathologic sections. This report depicts diagnostic features of porokeratosis and obviates the need for invasive procedures for its diagnosis.
PubMed: 27559506
DOI: 10.4103/2229-5178.185483 -
SAGE Open Medical Case Reports 2020Linear porokeratosis is a rare variant of porokeratosis that most often presents in newborns and children; development of this porokeratosis variant in adulthood is far...
Linear porokeratosis is a rare variant of porokeratosis that most often presents in newborns and children; development of this porokeratosis variant in adulthood is far less common. We report the case of a 25-year-old female who presented with a progressive eruption on the proximal upper extremity of 6-year duration, which was ultimately diagnosed as adult-onset linear porokeratosis and safely treated with oral isotretinoin. We propose that a sporadic mutation resulting in mosaicism after birth may explain the development of linear porokeratosis in adulthood, although the exact trigger of such a somatic mutation is not known. This case also describes a unique clinical presentation, with linear porokeratosis lesions originating on the proximal extremity rather than on the more common distal extremity. This demonstrates a distinctive clinical presentation not seen in the pediatric forms of disease.
PubMed: 32477558
DOI: 10.1177/2050313X20919613 -
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 -
Dermatology Online Journal Mar 2018We report a case of temozolomide (TMZ)-induced inflammation of disseminated superficial actinic porokeratosis (DSAP), an uncommon and pre-malignant cutaneous disorder....
We report a case of temozolomide (TMZ)-induced inflammation of disseminated superficial actinic porokeratosis (DSAP), an uncommon and pre-malignant cutaneous disorder. Dermatologists and oncologists should be aware of this cutaneous eruption of DSAP associated with TMZ to prevent the discontinuation of effective medical therapy in cancer patients.
Topics: Antineoplastic Agents, Alkylating; Biopsy; Dacarbazine; Humans; Inflammation; Male; Middle Aged; Porokeratosis; Skin; Temozolomide
PubMed: 29634886
DOI: No ID Found -
The Pan African Medical Journal 2015We report a skin localization of systemic sarcoidosis, which presented with lesions that resemble porokeratosis of Mibelli. Skin biopsy showed non-caseating sarcoidal...
We report a skin localization of systemic sarcoidosis, which presented with lesions that resemble porokeratosis of Mibelli. Skin biopsy showed non-caseating sarcoidal granuloma. Whereas cutaneous sarcoidosis is present in up to one-third of cases and may present with a wide variety of lesions, our presentation is uncommon. Partial remission was obtained with hydroxychloroquine and prednisone.
Topics: Anti-Inflammatory Agents; Biopsy; Humans; Hydroxychloroquine; Male; Middle Aged; Porokeratosis; Prednisone; Remission Induction; Sarcoidosis; Skin Diseases
PubMed: 26113926
DOI: 10.11604/pamj.2015.20.195.5003