1,169 results match your criteria Porokeratosis


Linear porokeratosis presenting in adulthood: A diagnostic challenge: A case report.

SAGE Open Med Case Rep 2020 6;8:2050313X20919613. Epub 2020 May 6.

Division of Dermatology, Department of Medicine, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, NY, USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2050313X20919613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7234341PMC

Online Pearls: The Appearance or Disappearance of the Cornoid Lamella Due to Level and Direction of Sectioning in Porokeratosis.

J Am Acad Dermatol 2020 May 18. Epub 2020 May 18.

Professor of Pathology, University of Mississippi Medical Center, Jackson, Mississippi; Instructor in Dermatology, University of Rochester School of Medicine and Dentistry, Rochester, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2020.05.055DOI Listing

Visual Dermatology: Porokeratosis of Mibelli.

J Cutan Med Surg 2020 May 19:1203475420928910. Epub 2020 May 19.

70892 Department of Dermatology, Hospital de Egas Moniz, Lisboa, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1203475420928910DOI Listing

Multiple porokeratomas (porokeratotic acanthoma) coexisting with disseminated superficial porokeratosis: Clinical, dermoscopic and pathological observations, and review of published work.

J Dermatol 2020 May 15. Epub 2020 May 15.

Department of Dermatology, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, China.

Porokeratoma is a recently described solitary or multiple tumor-like acanthoma, sharing the histological feature of cornoid lamellae with porokeratosis. Whether porokeratoma is a variant of porokeratosis is controversial. We report a rare case of a 53-year-old Chinese woman who presented with multiple, symmetrical, hemispherical and verrucous plaques on her lower extremities that had been present for 20 years. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.15376DOI Listing

Porokeratosis: A Review of Its Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment.

Actas Dermosifiliogr 2020 May 12. Epub 2020 May 12.

Servicio de Dermatología, Althaia, Xarxa Assistencial Universitària de Manresa, España.

Porokeratosis comprises a group of heterogeneous and uncommon acquired or congenital skin diseases of unknown origin characterized by a keratinization disorder resulting from abnormal clonal expansion of keratinocytes. Numerous genetic mutations are thought to be involved. These conditions are characterized histologically by the presence of a cornoid lamella. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2020.03.005DOI Listing

Effects of mevalonate kinase interference on cell differentiation, apoptosis, prenylation and geranylgeranylation of human keratinocytes are attenuated by farnesyl pyrophosphate or geranylgeranyl pyrophosphate.

Exp Ther Med 2020 Apr 27;19(4):2861-2870. Epub 2020 Feb 27.

Department of Dermatology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215006, P.R. China.

Mevalonate kinase (MVK) mutations were previously identified in disseminated superficial actinic porokeratosis. However, the role of MVK in differentiation, apoptosis and prenylation of keratinocytes requires further investigation. Farnesyl pyrophosphate (FPP) and geranylgeranyl pyrophosphate (GGPP) of the mevalonate pathway attach to small G proteins, and serve as molecular switches in biochemical pathways. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/etm.2020.8569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086283PMC
April 2020
0.941 Impact Factor

Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene.

Dermatol Online J 2020 Feb 15;26(2). Epub 2020 Feb 15.

Department of Dermatology, Ed. Herriot Hospital Group, Lyon, France and Department of Pathology, Centre Hospitalier Lyon Sud, Pierre Bénite.

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. Read More

View Article

Download full-text PDF

Source
February 2020

Segmental porokeratosis responding to methyl aminolevulinate photodynamic therapy.

Clin Exp Dermatol 2020 Jun 25;45(4):534-536. Epub 2020 Mar 25.

Department of Dermatology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.14200DOI Listing

Recurrent Squamous Cell Carcinoma Arising Within a Linear Porokeratosis

J Drugs Dermatol 2020 Feb;19(2):205-206

Here we report a case of linear porokeratosis with recurrent malignant degeneration to squamous cell carcinoma (SCC) recurring six years after excision of initial SCC. A 79-year-old woman presented with a friable tumor located within a longstanding lesion on her posterior thigh. Six years prior, she was diagnosed with SCC arising within the same lesion, which had been surgically excised with negative margins. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.36849/JDD.2020.4640DOI Listing
February 2020

Autoinflammatory Keratinization Diseases (AiKDs): Expansion of Disorders to Be Included.

Authors:
Masashi Akiyama

Front Immunol 2020 21;11:280. Epub 2020 Feb 21.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2020.00280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7046805PMC
February 2020

A rare case of multiple variants of porokeratosis in the same patient: The clue of dermoscopy for diagnosis and therapeutical update.

Dermatol Ther 2020 Feb 18:e13274. Epub 2020 Feb 18.

Lecturer-Professor of Dermatology by Faculty of Medicine of São Paulo, Full Researcher at Faculty of Medicine of ABC, São Paulo, Brazil.

Porokeratosis (PK) consists of abnormal keratinization of the epidermis of uncertain etiology and was first described by Mibelli in 1893. Multiple clinical variants of porokeratosis are recognized. The following is a case of a young male who presented more than one form of PK simultaneously. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dth.13274DOI Listing
February 2020
1.478 Impact Factor

Cluster of Vacuolated Spinous Keratinocytes: A Clue to Cornoid Lamellation and a Case of Porokeratosis Disseminata.

Am J Dermatopathol 2020 Jan 29. Epub 2020 Jan 29.

Ackerman Academy of Dermatopathology, New York, NY.

Cornoid lamella is a definitive diagnostic feature of porokeratosis, a disorder of keratinization that has various different clinical presentations. A tiered column of parakeratosis and a diminished granular layer with dyskeratotic keratinocytes at the column base are all useful and known features of cornoid lamellation. We have found a cluster of vacuolated spinous cells to be a reliable fourth feature of cornoid lamellation and a feature when present alone to be a reliable sign of impending cornoid lamellation on deeper sections. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/DAD.0000000000001614DOI Listing
January 2020

Squamous cell carcinoma arising from giant porokeratosis and rare postoperative recurrence and metastasis: A case report.

Medicine (Baltimore) 2020 Jan;99(2):e18697

Department of Dermatology, The Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Shandong Provincial Hospital of Traditional Chinese Medicine, Jinan, Shandong, China.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000018697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959887PMC
January 2020

Clinical course of porokeratosis ptychotropica over 7 years in an otherwise healthy child.

Pediatr Dermatol 2020 Jan 7;37(1):248-250. Epub 2019 Dec 7.

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Porokeratosis ptychotropica is an unusual variant of porokeratosis characterized by papules and plaques located on the buttocks and gluteal cleft and showing multiple coronoid lamellae on histology. In this case report, we present the longitudinal clinical course of porokeratosis ptychotropica in a pediatric patient with individual red-brown hyperkeratotic lesions that enlarged and became confluent prior to surgical intervention. We also discuss the etiology of porokeratosis ptychotropica and review current as well as future treatment options for the disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.14070DOI Listing
January 2020

Looking horizontally at disseminated superficial actinic porokeratosis: Correlations between in-vivo reflectance confocal microscopy and histopathology.

Skin Res Technol 2020 May 26;26(3):443-444. Epub 2019 Nov 26.

Centro Oncologico ad Alta Tecnologia Diagnostica, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/srt.12802DOI Listing

Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease).

Case Rep Dermatol 2019 Sep-Dec;11(3):292-296. Epub 2019 Oct 10.

Faculty of Health, Medicine and Life Sciences, Maastricht university, Maastricht, The Netherlands.

Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands. The parents are non-consanguineous and none of his family members had similar lesions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000503337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873031PMC
October 2019

Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis.

J Invest Dermatol 2019 12;139(12):2409-2411

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address:

Familial and sporadic porokeratosis are associated with germline heterozygous mutations in mevalonate pathway genes. Kubo et al. show that each skin lesion of disseminated superficial actinic porokeratosis originates from a postnatal keratinocyte clone with a different second-hit genetic event in the wild-type allele of the corresponding gene. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2019.07.723DOI Listing
December 2019
7.216 Impact Factor

Successful Treatment of Porokeratosis With Ablative Fractional Carbon Dioxide Laser and Vitamin C, E, and Ferulic Acid Serum

J Drugs Dermatol 2019 Nov;18(11):174-1176

Porokeratosis is a rare disorder of epidermal keratinization that encompasses several clinical forms, characterized by erythematous, annular plaques with an atrophic center and hyperkeratotic ridge-like border. The histopathological hallmark of porokeratosis is the cornoid lamella, a thin column of parakeratotic corneocytes embedded within the stratum corneum. There is no standard treatment regimen for porokeratosis. Read More

View Article

Download full-text PDF

Source
November 2019

Pink verrucous plaque in a man with systemic mastocytosis.

Dermatol Online J 2019 Oct 15;25(10). Epub 2019 Oct 15.

Department of Dermatology, University of California Davis, Sacramento, CA Department of Pathology and Laboratory Medicine University of California, Davis, CA.

Porokeratosis ptychotropica is a rare and commonly misdiagnosed subtype of porokeratosis involving the body folds. We present a 53-year-old man with systemic mastocytosis who presented with a pruritic, verrucous plaque in the gluteal fold that showed multiple cornoid lamellae on histopathologic evaluation, diagnostic of porokeratosis ptychotropica. Various treatments have been reported, including topical corticosteroids, retinoids, vitamin D analogs, calcineurin inhibitors, imiquimod, phototherapy, cryotherapy, or ablative laser therapy, but recurrences are common. Read More

View Article

Download full-text PDF

Source
October 2019

A precancerous skin lesion that is often misdiagnosed.

Aust J Gen Pract 2019 11;48(11):765-768

MBBS, FACD, FRACP, Consultant Dermatologist and Physician, Head of Dermatology, Perth Children@s Hospital, WA.

Background: Disseminated superficial actinic porokeratosis (DSAP) is a precancerous skin condition often seen by dermatologists that is characterised by multiple annular hyperkeratotic lesions on sun-exposed areas. In Australia, DSAP is not a rare condition, possibly owing to Australia's high levels of sun exposure, and patients with DSAP often initially present to general practitioners (GPs). A lack of awareness about DSAP may result in misdiagnosis and inappropriate management of the condition. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.31128/AJGP-04-19-4914DOI Listing
November 2019

Eruptive porokeratosis during pembrolizumab treatment of invasive cutaneous squamous cell carcinoma.

Int J Dermatol 2020 May 31;59(5):e141-e142. Epub 2019 Oct 31.

Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14701DOI Listing

An unusual spiculated presentation of follicular porokeratosis.

Dermatol Online J 2019 Jul 15;25(7). Epub 2019 Jul 15.

Department of Dermatology, Keck School of Medicine of the University of Southern California, Los Angeles, CA.

Follicular porokeratosis is a rare variant of porokeratosis in which the coronoid lamellae are confined to hair follicles. It classically presents with annular plaques with a surrounding keratotic ridge. However, the clinical presentation has shown significant variation in reported cases. Read More

View Article

Download full-text PDF

Source
July 2019
7 Reads

Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.

J Am Acad Dermatol 2020 Jan 23;82(1):123-131. Epub 2019 Aug 23.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut. Electronic address:

Background: Porokeratosis is associated with mevalonate pathway gene mutations. Therapeutic options are few and often limited in efficacy. We hypothesized that topical therapy that aims to replenish cholesterol, an essential mevalonate pathway end-product, and block the accumulation of mevalonate pathway toxic metabolites could alleviate porokeratosis. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01909622193264
Publisher Site
http://dx.doi.org/10.1016/j.jaad.2019.08.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039698PMC
January 2020
15 Reads
4.449 Impact Factor

Generalized Pruritic Flat Papules in Two Patients: A Quiz.

Acta Derm Venereol 2019 Oct;99(11):1059-1060

Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730 Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3284DOI Listing
October 2019

Use of Topical and Systemic Retinoids in Solid Organ Transplant Recipients: Update and Review of the Current Literature.

Dermatol Surg 2019 12;45(12):1442-1449

Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.

Background: Solid organ transplant recipients (SOTRs) are at an increased risk of epithelial malignancies, mainly squamous cell carcinoma, and its precursor lesions such as actinic keratoses, warts, and porokeratosis, which may respond to retinoid therapy.

Objective: To review the published evidence on the efficacy and safety of topical and systemic retinoids for the treatment and prophylaxis of malignant and premalignant conditions that mostly afflict SOTRs.

Materials And Methods: Systematic review of the literature to summarize the level of evidence and grade of recommendation for retinoid therapy with emphasis in the SOTR population. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/DSS.0000000000002072DOI Listing
December 2019
2 Reads

Diagnostic role of dermatoscopy in porokeratotic adnexal ostial nevus.

Indian J Dermatol Venereol Leprol 2019 Sep-Oct;85(5):546-548

Department of Dermatology, R. G. Kar Medical College, Kolkata, West Bengal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijdvl.IJDVL_776_18DOI Listing
February 2020

Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level.

Authors:
R C Betz

Br J Dermatol 2019 08 24;181(2):241. Epub 2019 Jul 24.

Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, D-53127, Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18139DOI Listing
August 2019
6 Reads

[Eruptive disseminated superficial porokeratosis associated with acute hepatitis E].

Ann Dermatol Venereol 2019 Oct 17;146(10):655-658. Epub 2019 Jul 17.

Unité de dermatologie, hôpitaux universitaires Paris Nord Val-de-Seine (HUPNVS), hôpital Beaujon, 92110 Clichy, France.

Background: Porokeratosis (PK) is a rare form of dermatosis characterized by a keratinization disorder of unknown etiology. Herein we describe the first case associated with hepatitis E virus infection.

Patients And Methods: A 69-year-old patient with colorectal cancer treated with radiation and chemotherapy followed by surgery in April 2017 presented two months later with jaundice associated with annular keratotic lesions of the skin with a raised border. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2019.05.004DOI Listing
October 2019
7 Reads

Two novel SSH1 mutations in Chinese patients with disseminated superficial actinic porokeratosis and immunohistochemical analysis of anti-Slingshot homolog 1 antibody in one typical patient.

J Eur Acad Dermatol Venereol 2019 Dec 30;33(12):e486-e488. Epub 2019 Jul 30.

Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.15810DOI Listing
December 2019
8 Reads

Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.

J Invest Dermatol 2019 12 15;139(12):2458-2466.e9. Epub 2019 Jun 15.

Department of Dermatology, Keio University School of Medicine, Tokyo, Japan; Keio-Maruho Laboratory of Skin Barriology, Keio University School of Medicine, Tokyo, Japan.

Patients with disseminated superficial actinic porokeratosis (DSAP) and linear porokeratosis (LP) exhibit monoallelic germline mutations in genes encoding mevalonate pathway enzymes, such as MVD or MVK. Here, we showed that each skin lesion of DSAP exhibited an individual second hit genetic change in the wild-type allele of the corresponding gene specifically in the epidermis, indicating that a postnatal second hit triggering biallelic deficiency of the gene is required for porokeratosis to develop. Most skin lesions exhibited one of two principal second hits, either somatic homologous recombinations rendering the monoallelic mutation biallelic or C>T transition mutations in the wild-type allele. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2019.05.020DOI Listing
December 2019
17 Reads

Zebras in Foreskin Dermatopathology: A Review.

J Low Genit Tract Dis 2019 Jul;23(3):235-240

Department of Pathology, Immunology, University Hospital and Laboratory Medicine, Rutgers New Jersey Medical School, Newark, NJ.

Objectives: The aim of the study was to review uncommon foreskin dermatopathology conditions clinically and pathologically.

Methods: A database search of PubMed and Google Scholar were extracted between March 1, 2009, and March 1, 2019, using the search terms "foreskin," "prepuce," "penis," "pathology," "dermatology," and "rare." The search was limited to "humans" and "dermatopathology. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/LGT.0000000000000478DOI Listing
July 2019
31 Reads

Porokeratosis Ptychotropica.

JAMA Dermatol 2019 07;155(7):845

Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamadermatol.2019.0602DOI Listing
July 2019
6 Reads

Superficial shaving combined with photodynamic therapy for treating disseminated superficial actinic porokeratosis: A case report.

Photodiagnosis Photodyn Ther 2019 Sep 3;27:24-26. Epub 2019 May 3.

Dermatology Department of Xiangya Hospital of Central South University, Hunan, China; Hunan Engineering Research Center of Skin Health and Disease, Hunan, China; Hunan Key Laboratory of Skin Cancer and Psoriasis, Hunan, China. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pdpdt.2019.04.032DOI Listing
September 2019
7 Reads

Effective treatment of disseminated superficial actinic porokeratosis with chemical peels - customary treatment for a rare disease.

J Dermatolog Treat 2019 Apr 25:1-17. Epub 2019 Apr 25.

a Department of Dermatology , University Medicine Mainz , Mainz , Germany.

Disseminated superficial actinic porokeratosis (DSAP) is a rare dermatologic disorder of the epidermis. Often misdiagnosed as chronic UV-damage or actinic keratoses, patients are treated for years with different therapeutic options with little success. Current treatment options include imiquimod, ingenol mebutate, cryosurgery, photodynamic therapy and topical or systemic therapy with retinoids. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/09546634.2019.1610551DOI Listing
April 2019
10 Reads

Progressive late-onset porokeratotic eccrine ostial and dermal duct naevus.

Australas J Dermatol 2019 Nov 16;60(4):e333-e334. Epub 2019 Apr 16.

Department of Dermatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ajd.13040DOI Listing
November 2019
10 Reads

Multiple flat-topped scaly violaceous papules.

Dermatol Online J 2019 Mar 15;25(3). Epub 2019 Mar 15.

Texas A & M University College of Medicine, College Station, Texas.

Epidermodysplasia verruciformis (EV) is an autosomal recessive genodermatosis characterized by susceptibility to beta-genus human papillomavirus (HPV) infection. Owing to TMC6/EVER1 and TMC8/EVER2 mutations that lead to abnormal transmembrane channels in the endoplasmic reticulum involved in immunological pathways, keratinocytes cannot combat infection from non-pathogenic HPV strains. Mutations involving RHOH, MST-1, CORO1A, and IL-7 have also been associated with EV in patients without TMC6 or TMC8 mutations. Read More

View Article

Download full-text PDF

Source
March 2019
34 Reads

Molecular Corroboration of Type 2 Segmental Mosaicism in Various Types of Porokeratosis.

Authors:
Rudolf Happle

JAMA Dermatol 2019 05;155(5):531-532

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamadermatol.2019.0134DOI Listing
May 2019
5 Reads

Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.

JAMA Dermatol 2019 05;155(5):548-555

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

Importance: Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination. Because linear porokeratosis manifests in the lines of Blaschko representing the dorsoventral migration patterns of keratinocyte precursors, it has been suggested that postzygotic somatic mutation underlies the disease. However, no genetic evidence has supported this hypothesis to date. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamadermatol.2019.0016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506890PMC
May 2019
26 Reads

Eruptive porokeratosis under nivolumab adjuvant treatment for melanoma.

Int J Dermatol 2019 Jul 27;58(7):e138-e140. Epub 2019 Feb 27.

Dermatology Unit, Department of Medical, Surgical and Neurological Science, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ijd.14415
Publisher Site
http://dx.doi.org/10.1111/ijd.14415DOI Listing
July 2019
50 Reads

Linear porokeratosis associated with Bardet-Biedl syndrome: A case report.

Pediatr Dermatol 2019 May 22;36(3):346-348. Epub 2019 Feb 22.

Department of Dermatology, University of Virginia Health System, Charlottesville, Virginia.

This case report presents a 17-year-old boy with Bardet-Biedl syndrome (BBS) and a long-standing hyperpigmented eruption on the left trunk and upper extremity, clinically and histologically consistent with linear porokeratosis (LP). BBS patients frequently require solid organ transplant, and subsequent immunosuppression places them at especially high risk for malignant transformation of premalignant skin lesions such as LP. Although BBS affects multiple organ systems, there are only a handful of case reports detailing associated cutaneous involvement, and, to our knowledge, this is the first reported case of linear porokeratosis occurring in patient with BBS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13776DOI Listing
May 2019
11 Reads

Skin Cancer Associated Genodermatoses: A Literature Review.

Acta Derm Venereol 2019 Apr;99(4):360-369

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark.

Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3123DOI Listing
April 2019
37 Reads

Image Gallery: A case of porokeratosis ptychotropica.

Br J Dermatol 2019 01;180(1):e2

Department of Dermatology and Venerology, Peking University First Hospital, No. 8 Xishiku Street, Xi Cheng District, Beijing, 100034, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.17158DOI Listing
January 2019
5 Reads

Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.

Br J Dermatol 2019 08 18;181(2):304-313. Epub 2019 Mar 18.

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

Background: Disseminated superficial actinic porokeratosis (DSAP) is a rare autosomal dominant disease. In our previous research, we found that a linkage region of DSAP in a large family is located at 12q23·2-q24·1. Subsequently, the mevalonate kinase gene (MVK) was shown to be pathogenic in DSAP. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bjd.17596
Publisher Site
http://dx.doi.org/10.1111/bjd.17596DOI Listing
August 2019
8 Reads

A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis.

Br J Dermatol 2019 06 13;180(6):1545-1546. Epub 2019 Feb 13.

Department of Dermatology, Peking University Third Hospital, Haidian District, Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.17531DOI Listing
June 2019
4 Reads

Painless Horny Keratotic Spines on the Palms: A Quiz.

Acta Derm Venereol 2019 Mar;99(3):355-356

Department of Dermatology and Venereology, Geneva University Hospitals, 1205 Geneva, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3099DOI Listing
March 2019
5 Reads

Exclusive Facial Actinic Porokeratosis.

Indian Dermatol Online J 2018 Nov-Dec;9(6):469-470

Department of Dermatology, Sri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital, Dharwad, Karnataka, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/idoj.IDOJ_76_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232994PMC
December 2018
32 Reads

Verrucous Intertriginous Plaques: Answer.

Am J Dermatopathol 2018 Dec;40(12):937

Department of Dermatology, Medical University of South Carolina, Charleston, SC.

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00000372-201812000-0001
Publisher Site
http://dx.doi.org/10.1097/DAD.0000000000001011DOI Listing
December 2018
11 Reads

Porokeratosis-Like Grover Disease: More Than an Acantholytic Pattern.

Actas Dermosifiliogr 2019 May 5;110(4):332-334. Epub 2018 Nov 5.

Programa de Dermatopatología, Universidad CES, Medellín, Antioquia, Colombia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2018.02.032DOI Listing
May 2019
9 Reads