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Actas Dermo-sifiliograficas Feb 2024
Review
Topics: Male; Humans; Porokeratosis; Scrotum; Buttocks
PubMed: 38048959
DOI: 10.1016/j.ad.2023.11.005 -
BioMed Research International 2014According to the literature, intense pulsed light (IPL) represents a versatile tool in the treatment of some dermatological conditions (i.e., pigmentation disorders,...
According to the literature, intense pulsed light (IPL) represents a versatile tool in the treatment of some dermatological conditions (i.e., pigmentation disorders, hair removal, and acne), due to its wide range of wavelengths. The authors herein report on 58 unconventional but effective uses of IPL in several cutaneous diseases, such as rosacea (10 cases), port-wine stain (PWS) (10 cases), disseminated porokeratosis (10 cases), pilonidal cyst (3 cases), seborrheic keratosis (10 cases), hypertrophic scar (5 cases) and keloid scar (5 cases), Becker's nevus (2 cases), hidradenitis suppurativa (2 cases), and sarcoidosis (1 case). Our results should suggest that IPL could represent a valid therapeutic support and option by providing excellent outcomes and low side effects, even though it should be underlined that the use and the effectiveness of IPL are strongly related to the operator's experience (acquired by attempting at least one specific course on the use of IPL and one-year experience in a specialized centre). Moreover, the daily use of these devices will surely increase clinical experience and provide new information, thus enhancing long-term results and improving IPL effectiveness.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Female; Humans; Intense Pulsed Light Therapy; Male; Middle Aged; Off-Label Use; Skin Diseases; Young Adult
PubMed: 25276803
DOI: 10.1155/2014/618206 -
PloS One 2013Porokeratosis is a rare disease of epidermal keratinization characterized by the histopathological feature of the cornoid lamella, a column of tightly fitted...
Porokeratosis is a rare disease of epidermal keratinization characterized by the histopathological feature of the cornoid lamella, a column of tightly fitted parakeratocytic cells, whose etiology is still unclear. Porokeratosis of Mibelli is a subtype of porokeratosis presenting a single plaque or a small number of plaques of variable size located unilaterally on limbs. It frequently appears in childhood and occurs with a higher incidence in males. Cytogenetic analyses were performed in all members of the family on lesioned and uninvolved skin. An array-CGH analysis was also performed utilizing the Human Genome CGH Microarray Kit G3 400 with 5.3 KB overall median probe spacing. Gene expression was performed on skin fibroblasts. In this study, we describe a Caucasian healthy 4-year-old child and his father showing features of porokeratosis of Mibelli. Array-CGH analysis revealed an interstitial 429.5 Kb duplication of chromosome 18p11.32-p11.3 containing four genes, namely: SMCHD1, EMILIN2, LPIN2, and MYOM1 both in patient and his father. EMILIN2 resulted overexpressed on skin fibroblasts. Also other members of this family, without evident signs of porokeratosis, carried the same duplication. Among these genes, we focused our attention on elastin microfibril interfacer 2 (EMILIN2) gene. Apoptosis plays a fundamental role in maintaining epidermal homeostasis, balancing keratinocytes proliferation, and forming the stratum corneum. EMILIN2 is known to trigger the apoptosis of different cell lines negatively affecting cell survival. It is expressed in the skin. We could speculate that the duplication and overexpression of EMILIN2 cause an abnormal apoptosis of epidermal keratinocytes and alter the process of keratinization, even if other epigenetic and genetic factors could also be involved. Our results could contribute to a better understanding of the pathogenesis of porokeratosis of Mibelli.
Topics: Chromosome Duplication; Chromosomes, Human, Pair 18; Comparative Genomic Hybridization; Glycoproteins; Humans; Porokeratosis
PubMed: 23593459
DOI: 10.1371/journal.pone.0061311 -
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 -
Cureus Aug 2023Linear porokeratosis is a rare skin disorder that presents along dermatomal or Blashko lines. While the mechanism of linear porokeratosis formation is unknown, both...
Linear porokeratosis is a rare skin disorder that presents along dermatomal or Blashko lines. While the mechanism of linear porokeratosis formation is unknown, both disrupted cholesterol synthesis and mevalonate accumulation have been proposed as possible theories. There is a small chance of transforming into cutaneous malignancies, most commonly squamous cell carcinomas. The patient is a 61-year-old male with an unusual presentation of bilateral linear porokeratosis. His condition provided a unique opportunity to compare the efficacy of topical treatments in a single individual. A previous trial had successfully cleared the porokeratosis plaques with topical cholesterol 2%/lovastatin 2% on the patient's right arm. After a 12-week trial of topical lovastatin 2% monotherapy on the left arm, our current study demonstrated a comparable reduction of porokeratosis lesions. In our PubMed search, there has been a single reported case of disseminated superficial actinic porokeratosis successfully treated with topical lovastatin 2% monotherapy, but there have not been any reported cases of linear porokeratosis treated with this therapy. While topical lovastatin monotherapy for porokeratosis subvariants requires further studies, this case demonstrates similar efficacy of treating linear porokeratosis with topical lovastatin compared to cholesterol/lovastatin dual therapy. These findings support the theory of mevalonate accumulation as a more likely cause of linear porokeratosis compared to disruption of cholesterol synthesis.
PubMed: 37719543
DOI: 10.7759/cureus.43657 -
Indian Journal of Dermatology,... 2018
Topics: Adult; Female; Foot; Hand; Humans; Male; Nails, Malformed; Porokeratosis
PubMed: 29271370
DOI: 10.4103/ijdvl.IJDVL_940_16 -
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 -
Anales de Pediatria (Barcelona, Spain :... Sep 2004
Topics: Child; Erythema; Humans; Male; Porokeratosis; Skin
PubMed: 15469816
DOI: 10.1016/s1695-4033(04)78811-6 -
Dermatology Online Journal Jan 2012Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare nonhereditary malformation of the eccrine duct. A relationship with linear porokeratosis is not yet...
Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare nonhereditary malformation of the eccrine duct. A relationship with linear porokeratosis is not yet established; some consider it as a rare variant of porokeratosis involving the acrosyringium, whereas others consider it a separate entity based on distinctive clinical features and histologic accentuation within ostial structures. A 7-year-old girl presented with multiple asymptomatic keratotic papules over her right palm, present since the age of 6 months. These papules were arranged in a linear distribution over the palm and middle finger of the right hand. Most of the papules were discrete. However, lesions on the middle finger coalesced to form a plaque. Histology revealed a keratin filled deep invagination of the epidermis, notable for a column of parakeratosis ("cornoid lamella"). The dermis was notable for dilated eccrine ducts and absent inflammation. Considering the clinical and histological evidence, a diagnosis of PEODDN was made. Its clinical resemblance to linear lichen planus and linear porokeratosis is discussed. Also, we provide a brief review of this rare condition.
Topics: Biopsy; Child; Eccrine Glands; Female; Hand; Humans; Nevus, Pigmented; Porokeratosis; Skin Neoplasms
PubMed: 22301047
DOI: No ID Found -
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