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Palmoplantar keratoderma

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https://www.readbyqxmd.com/read/29782305/tatami-mats-a-source-of-pitted-keratolysis-in-a-martial-arts-athlete
#1
Anamaria Balić, Zrinka Bukvić Mokos, Branka Marinović, Daniela Ledić Drvar
Dear Editor, Pitted keratolysis (PK), also known as keratosis plantaris sulcatum, is a non-inflammatory, bacterial, superficial cutaneous infection, characterized by many discrete superficial crateriform ''pits'' and erosions in the thickly keratinized skin of the weight-bearing regions of the soles of the feet (1). The disease often goes unnoticed by the patient, but when it is noticed it is because of the unbearable malodor and hyperhidrosis of the feet, which are socially unacceptable and cause great anxiety to many of the patients...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29765964/a-rare-syndrome-resembling-scleroderma-huriez-syndrome
#2
Nil Su Çelik, Şirin Yaşar, Sema Aytekin, Pembegül Güneş
Huriez syndrome, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nails. The development of aggressive squamous cell carcinoma (SCC) arising in the scleroatrophic area is also a distinctive feature of the syndrome. Early diagnosis is important due to the early onset, mostly in the third to fourth decades of life, and aggressive progress of SCC, which occurs in around 15% of affected individuals...
April 2018: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29724688/aberrant-expression-of-aquaporin-3-in-hereditary-papulotranslucent-acrokeratoderma-and-aquagenic-palmoplantar-keratoderma
#3
Laura Cristina Gironi, Enrico Colombo, Francesca Zottarelli, Andrea Guala, Carlo Arduino, Monica Leutner, Lara Camillo, Guido Valente, Renzo Luciano Boldorini, Paola Savoia
No abstract text is available yet for this article.
April 1, 2018: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29719290/identification-of-a-novel-keratin-9-missense-mutation-in-a-chinese-family-with-epidermolytic-palmoplantar-keratoderma
#4
Heng Xiao, Yi Guo, Junhui Yi, Hong Xia, Hongbo Xu, Lamei Yuan, Pengzhi Hu, Zhijian Yang, Zhenghao He, Hongwei Lu, Hao Deng
BACKGROUND/AIMS: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis. It is characterized by diffuse yellow keratoses on the palmoplantar epidermis, with an erythematous border. The keratin 9 gene (KRT9) and less frequently the keratin 1 gene (KRT1) are responsible for EPPK. This study aims to identify and analyse genetic defects responsible for EPPK in a Han Chinese pedigree. METHODS: A four-generation Han Chinese pedigree containing five individuals affected with EPPK was recruited...
April 26, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29689068/role-of-the-keratin-1-and-keratin-10-tails-in-the-pathogenesis-of-ichthyosis-hystrix-of-curth-macklin
#5
Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino
Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the affected skin, whereas epidermolysis and clumping of tonofilaments, as seen in EI, are absent. While IH-CM is associated with mutations in the keratin 1 (KRT1) gene, reports to date have indicated that mutations in the KRT1 gene result in an aberrant and truncated protein tail, essentially affecting the function of the V2 domain...
2018: PloS One
https://www.readbyqxmd.com/read/29661637/-epidermolytic-palmoplantar-keratoderma-of-v%C3%A3-rner
#6
Ana Varela-Veiga, Benigno Monteagudo, Elvira León-Muiños, Cristina Durana
No abstract text is available yet for this article.
April 13, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29644198/olmsted-syndrome-with-lateral-supraciliary-madarosis-and-clubbing-a-rare-case-report
#7
Md Zeeshan, Abhijeet K Jha, R K P Chaudhary
Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy who presented with keratoderma of the palm and soles since childhood with lateral supraciliary madarosis and clubbing. The patient was started on oral retinoids and topical keratolytics and had partial improvement in 2 months. Keratoderma of the palms and soles along with lateral supraciliary madarosis and clubbing in our case is a very rare finding, and to the best of our knowledge, has not been reported so far...
March 2018: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29607617/a-novel-heterozygous-missense-mutation-of-dsp-in-a-chinese-han-pedigree-with-palmoplantar-keratoderma
#8
Ke Xue, Yajie Zheng, Yong Cui
BACKGROUND: Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK). AIMS: To better understand the relationship between PPK and the gene mutations in DSP. METHODS: A pedigree of PPK was subjected to heterozygous missense mutation analysis in the DSP gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study...
April 1, 2018: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/29604126/sam-syndrome-is-characterized-by-extensive-phenotypic-heterogeneity
#9
Shahar Taiber, Liat Samuelov, Janan Mohamad, Eran Cohen Barak, Ofer Sarig, Stavit Allon Shalev, Gilles Lestringant, Eli Sprecher
Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma. We present 3 new cases of SAM syndrome in 2 families and review the cases published so far. Whole exome and direct sequencing were used to identify SAM syndrome-causing mutations...
March 31, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29575617/novel-rspo1-mutation-causing-46-xx-testicular-disorder-of-sex-development-with-palmoplantar-keratoderma-a-review-of-literature-and-expansion-of-clinical-phenotype
#10
Karthik Tallapaka, Vineeth Venugopal, Ashwin Dalal, Shagun Aggarwal
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive form of SRY-negative 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 acts by activating the canonical β-catenin pathway and is one of the most important genes controlling female gonadal differentiation. RSPO1-associated disorders of sex development have been described only in three instances in the past...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29523849/p63-is-a-key-regulator-of-irhom2-signalling-in-the-keratinocyte-stress-response
#11
Paola Arcidiacono, Catherine M Webb, Matthew A Brooke, Huiqing Zhou, Paul J Delaney, Keat-Eng Ng, Diana C Blaydon, Andrew Tinker, David P Kelsell, Anissa Chikh
Hyperproliferative keratinocytes induced by trauma, hyperkeratosis and/or inflammation display molecular signatures similar to those of palmoplantar epidermis. Inherited gain-of-function mutations in RHBDF2 (encoding iRHOM2) are associated with a hyperproliferative palmoplantar keratoderma and squamous oesophageal cancer syndrome (termed TOC). In contrast, genetic ablation of rhbdf2 in mice leads to a thinning of the mammalian footpad, and reduces keratinocyte hyperproliferation and migration. Here, we report that iRHOM2 is a novel target gene of p63 and that both p63 and iRHOM2 differentially regulate cellular stress-associated signalling pathways in normal and hyperproliferative keratinocytes...
March 9, 2018: Nature Communications
https://www.readbyqxmd.com/read/29500825/case-of-punctate-palmoplantar-keratoderma-type-i-treated-with-combination-of-low-dose-oral-acitretin-and-topical-salicylic-acid-and-steroid
#12
Jeong Won Jo, Do Seon Jeong, Chi Yeon Kim
Palmoplantar keratodermas (PPK) are heterogeneous disorders characterized by abnormal keratinization. Especially, punctate PPK (PPPK), one of the subtypes of hereditary PPK, is a rare punctate keratoderma characterized by tiny "raindrop" keratoses having a tendency to coalesce on the edge of soles, which are exposed to sustained pressure. If typical punctate lesions are confined to the palms and soles and the patient has a family history and late onset, it can be considered as PPPK type I (PPKP1), also called Buschke-Fisher-Brauer disease...
May 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29489036/hereditary-palmoplantar-keratodermas-part-i-non-syndromic-palmoplantar-keratodermas-classification-clinical-and-genetic-features
#13
REVIEW
L Guerra, M Castori, B Didona, D Castiglia, G Zambruno
The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into the following: (i) non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; (ii) non-syndromic PPKs with additional distinctive cutaneous and adnexal manifestations, here named complex PPKs; (iii) syndromic PPKs, in which PPK is associated with specific extracutaneous manifestations...
May 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29454964/nek3-mediated-snap29-phosphorylation-modulates-its-membrane-association-and-snare-fusion-dependent-processes
#14
Debora Rapaport, Boris Fichtman, Hilla Weidberg, Eli Sprecher, Mia Horowitz
Intracellular membrane fusion depends on the presence of specific mediators, the vesicle (v-) and the target (t-) SNAREs (Soluble N-ethylmaleimide-sensitive factor, NSF, attachment protein SNAP receptors), whose interaction brings apposing membranes to close proximity and initiates their fusion. SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and affects structure of organelles such as the Golgi apparatus and focal adhesions...
March 4, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29436206/olmsted-syndrome-caused-by-a-heterozygous-p-gly568val-missense-mutation-in-trpv3-gene
#15
Ji Young Choi, Song Ee Kim, Sang Eun Lee, Soo Chan Kim
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic 'gain-of-function' mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear...
March 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29406601/the-keratin-16-null-phenotype-is-modestly-impacted-by-genetic-strain-background-in-mice
#16
Abigail Zieman, Pierre A Coulombe
The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16-/- mice develop oral lesions early after birth and PC-like PPK lesions as young adults...
February 6, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29397027/hereditary-palmoplantar-keratodermas-part-ii-syndromic-palmoplantar-keratodermas-diagnostic-algorithm-and-principles-of-therapy
#17
REVIEW
L Guerra, M Castori, B Didona, D Castiglia, G Zambruno
Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development...
February 3, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29357356/genetic-variants-in-pachyonychia-congenita-associated-keratins-increase-susceptibility-to-tooth-decay
#18
Olivier Duverger, Jenna C Carlson, Chelsea M Karacz, Mary E Schwartz, Michael A Cross, Mary L Marazita, John R Shaffer, Maria I Morasso
Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. We further demonstrated that these keratins are produced by ameloblasts and are incorporated into mature human enamel...
January 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29313942/image-gallery-acquired-palmoplantar-keratoderma-due-to-hypothyroidism
#19
J C Prezzano, S C Reddy, F A Tausk
No abstract text is available yet for this article.
December 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29302927/a-review-on-pityriasis-rubra-pilaris
#20
REVIEW
Dingyuan Wang, Vanessa Cui-Lian Chong, Wei-Sheng Chong, Hazel H Oon
Pityriasis rubra pilaris (PRP) is an idiopathic, papulosquamous inflammatory dermatosis. It is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. PRP can be subdivided into six clinical subtypes according to Griffiths' classification, based on age of onset, disease extent, prognosis, and other associated features. The sixth subtype of PRP occurs in individuals affected by HIV infection, and retroviral screening in all de novo cases of PRP is advised...
January 4, 2018: American Journal of Clinical Dermatology
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