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Palmoplantar keratoderma

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https://www.readbyqxmd.com/read/28604957/-molecular-genetic-study-of-a-family-affected-with-punctate-palmoplantar-keratoderma
#1
Yueqin Jia, Shaowei Wang, Yingyu Zhu, Dan Luo
OBJECTIVE: To analyze the clinical characteristics and causative mutation in an ethnic Han Chinese family affected with punctate palmoplantar keratoderma (PPPK). METHODS: Clinical characteristics and inheritance pattern of the family were analyzed. Two seriously affected individuals from the family were investigated by whole exome sequencing. Three healthy individuals from the family and 120 non-PPPK individuals were evaluated to validate the result. RESULTS: The family was characterized by keratotic papules on the palms and soles, which gradually increased in size and number with age and coalesced with each other, particularly over the pressure part of the palms and soles...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28569788/disease-linked-connexin26-s17f-promotes-volar-skin-abnormalities-and-mild-wound-healing-defects-in-mice
#2
Eric Press, Katanya C Alaga, Kevin Barr, Qing Shao, Felicitas Bosen, Klaus Willecke, Dale W Laird
Several mutant mice have been generated to model connexin (Cx)-linked skin diseases; however, the role of connexins in skin maintenance and during wound healing remains to be fully elucidated. Here we generated a novel, viable, and fertile mouse (Cx26(CK14-S17F/+)) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. This mutant mouse mirrors several Cx26-linked human skin pathologies suggesting that the etiology of Cx26-linked skin disease indeed stems from epidermal expression of the Cx26 mutant...
June 1, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28526297/modeling-the-structure-of-keratin-1-and-10-terminal-domains-and-their-misassembly-in-keratoderma
#3
Cedric Badowski, Adelene Y L Sim, Chandra Verma, Ildikó Szeverényi, Chidambaram Natesavelalar, Ana Terron-Kwiatkowski, John Harper, Edel A O'Toole, E Birgitte Lane
The terminal domains of suprabasal keratins of the skin epithelium are very resistant to evidence-based structural analysis because of their inherent flexibility and lack of predictable structure. We present a model for the structure and interactions of the head and tail domains of epidermal keratins K1 and K10, based on all-atom 3D simulations of keratin primary amino acid sequences, and tyrosine phosphorylation predictions, extracted from published databases. We observed that K1 and K10 end domains are likely to form a tetrameric terminal domain complex (TTDC) incorporating a reversibly extendable region potentially acting as a molecular spring...
May 16, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28512994/erythema-elevatum-diutinum-presenting-with-palmoplantar-keratoderma
#4
K Kamyab, K Balighi, A Azizpour, S Khani, F Safar
No abstract text is available yet for this article.
May 17, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28512402/unilateral-linear-punctate-palmoplantar-keratoderma-a-case-report
#5
Chanisa Kiatsurayanon, Jinda Rojanamatin, Poonawis Sudtikoonaseth, Kowit Kampirapap, Mingkwan Wichaidit, François Niyonsaba
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface. Among the PPPK varieties, the linear presentation is much rarer, and so far there have been only 3 case reports. Here, we report the case of a 27-year-old female Thai patient who presented to our outpatient clinic with unilateral asymptomatic linear thickening lesions on her right sole since childhood...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28492156/electrical-storm-or-naxos-syndrome-in-an-adult-causing-recurrent-syncope
#6
Muhammad Furrakh Maqbool, Muhammad Sajid, Ahmed Noeman
Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized and important cause of sudden cardiac death. Two rare variants of arrhythmogenic right ventricular cardiomyopathy are Carvajal syndrome and Naxos syndrome...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28462859/exfoliative-erythroderma-and-palmoplantar-hyperkeratosis-associated-with-majocchi-s-granuloma-by-trichophyton-tonsurans-in-a-patient-with-aids
#7
Marcelo R Lyra, Bruna Muniz Álvarez, Andrea L Lanziano, Maria Auxiliadora A Imbeth, Adriana M Sá, Tullia Cuzzi, Jeferson C Oliveira, Armando O Schubach
BACKGROUND: Dermatophytoses are skin superficial mycoses in which clinical manifestations are directly related to the virulence of the infecting microorganism or the host immunity. CASE REPORT: We describe a severe case of dermatophytosis associated with exfoliative erythroderma, substantial palmoplantar keratoderma, onychodystrophy affecting all nails, diffuse non-scarring alopecia and tissue fungal invasion by Trichophyton tonsurans, which led us to the diagnosis of AIDS...
April 24, 2017: Revista Iberoamericana de Micología
https://www.readbyqxmd.com/read/28442872/olmsted-syndrome-in-a-family
#8
Rajyalaxmi Konathan, Sainath Kumar Alur
Olmsted syndrome (OS) is a rare disorder characterized by the combination of periorificial, keratotic plaques, and bilateral palmoplantar keratoderma. Synonyms are mutilating palmoplantar keratoderma with periorificial keratotic plaques (ORPHA659, MIM #614594 and #300918). A number sign (#) is used with this entry because of evidence that mutilating palmoplantar keratoderma with periorificial keratotic plaques (OS) is caused by heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. We report three cases of OS, two females and one male in the same family, who presented with palmoplantar keratoderma, sparse scalp hair, cheilitis, and periorificial fissures...
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28418591/a-hypomorphic-egfr-allele-does-not-ameliorate-the-palmoplantar-keratoderma-caused-by-slurp1-deficiency
#9
Christopher M Allan, Deanna Tran, Yiping Tu, Patrick J Heizer, Lorraine C Young, Loren G Fong, Anne P Beigneux, Stephen G Young
Mutations in SLURP1, a secreted protein of keratinocytes, cause a palmoplantar keratoderma (PPK) known as mal de Meleda. Slurp1 deficiency in mice faithfully recapitulates the human disease, with increased keratinocyte proliferation and thickening of the epidermis on the volar surface of the paws. There has long been speculation that SLURP1 serves as a ligand for a receptor that regulates keratinocyte growth and differentiation. We were intrigued that mutations leading to increased signaling through the epidermal growth factor receptor (EGFR) cause PPK...
April 18, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28398428/paraneoplastic-palmoplantar-keratoderma-secondary-to-metastatic-uterine-adenocarcinoma
#10
Joseph R Kallini, Khosro Sadeghani, Amor Khachemoune
Palmoplantar keratoderma (PPK) is a dermatosis that presents as hyperkeratosis of the palms and soles. It may be acquired or heritable. Acquired PPK often occurs as a paraneoplastic response as well as a stigma of other dermatoses. We report a rare case of a 72-year-old woman with acquired PPK secondary to metastatic uterine adenocarcinoma. We also review other rare cases of cutaneous paraneoplasia secondary to uterine cancer and describe the salient features of acquired PPK. Acquired PPK most commonly presents as a paraneoplastic response to visceral malignancies that include localized esophageal, pulmonary, urinary/bladder, and gastric carcinomas, as well as myeloma...
March 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28391651/identification-of-a-heterozygous-p-gly568val-missense-mutation-in-the-trpv3-gene-in-a-japanese-patient-with-olmsted-syndrome-in-silico-analysis-of-trpv3
#11
Hiroshi Nagai, Yutaka Takaoka, Aki Sugano, Yuji Nakamachi, Seiji Kawano, Chikako Nishigori
Olmsted syndrome is a very rare congenital disorder, characterized by palmoplantar keratoderma and periorificial keratotic lesions. Recently, TRPV3 was reported to be a causative gene of Olmsted syndrome. We identified a heterozygous missense mutation of TRPV3, c.1703G>T, p.Gly568Val, in a Japanese patient with Olmsted syndrome. To the best of our knowledge, this is the first report of a Japanese patient with Olmsted syndrome harboring a missense mutation in TRPV3. We conducted in silico analysis of TRPV3 to evaluate whether the p...
April 9, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28377424/the-ca2-permeable-cation-trpv3-channel-an-emerging-pivotal-target-for-itch-and-skin-diseases
#12
Gongxin Wang, Kewei Wang
Temperature-sensitive transient receptor potential (thermo-TRP) channels such as TRPA1 and TRPV1 have been indicated as downstream ion channel targets in transduction of itch. As a member of thermos-TRPs, Ca2+-permeable nonselective cation TRPV3 channels are expressed abundantly in the skin keratinocytes. Recent identification of gain-of-function mutations of human TRPV3 from patients with Olmsted Syndrome characterized by severe itching and palmoplantar and periorificial keratoderma unveils its crucial role in chronic itch and skin diseases...
April 4, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28329610/generalized-woolly-hair-with-diventricular-arrythmogenic-cardiomyopathy-a-rare-variant-of-naxos-disease
#13
Abhijit Dutta, Sudip Kumar Ghosh, Biswajit Majumder, Rahul Majumdar
Woolly hair may occur as an isolated problem of cosmetic concern or can be a part of a systemic disease (woolly hair syndrome) with underlying fatal cardiomyopathy. Two characteristic associations of woolly hair syndrome are Naxos disease and Carvajal syndrome. Naxos disease is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329514/disseminated-punctate-keratoderma-a-rare-case-report-and-review-of-the-literature
#14
Eseosa Asemota, Alina Markova, Jonathan Ho, Michael K Lichtman
We report a rare case of a 53-year-old womanpresenting with diffuse, late-onset disseminatedhyperkeratotic papules. Biopsy showed massivehyperkeratosis overlying a crateriform epidermaldepression and hypergranulosis with mild epidermalhyperplasia. There was no parakeratosis, cornoidlamella, or dyskeratosis. Based on the clinical findingsand histopathological features, a diagnosis ofdisseminated punctate keratoderma was made. Thisis a rare subtype of palmoplantar keratoderma, whichhas a putative increased risk of malignancy...
March 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329484/gabapentin-induced-aquagenic-wrinkling-of-the-palms
#15
Nazan Emiroglu, Fatma P Cengiz, Ozlem Su, Nahide Onsun
Aquagenic keratoderma (AK) or aquagenic wrinklingis a rare palmoplantar skin disease. It is sporadic orhereditary condition. It appears in childhood or youngadulthood and it is seen as multiple asymptomaticsmall shiny papules on the peripheral margin ofpalms and/or soles after submersion in water. Thepathogenesis and etiology of ASA remains unclear.Drugs sometimes trigger AK. Herein, we present thecase of a 29-year-old man who had begun treatmentwith gabapentin three weeks before the onset of hiscutaneous symptoms...
January 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28301045/beneficial-effect-of-ustekinumab-in-familial-pityriasis-rubra-pilaris-with-a-new-missense-mutation-in-card14
#16
S M Lwin, C-K Hsu, L Liu, H-Y Huang, N J Levell, J A McGrath
Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which ~1 in 20 affected individuals show autosomal dominant inheritance. In such cases, there may be gain-of-function mutations in CARD14, encoding caspase recruitment domain-containing protein 14 (CARD14) that activates the non-canonical nuclear factor-kappa B (NF-κB) pathway, thereby promoting cutaneous inflammation. Here, we report a mother and son with PRP due to a new missense mutation in CARD14 and describe the beneficial clinical effects of ustekinumab, a monoclonal antibody against interleukins-12 and -23, in both subjects...
March 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28239884/mutations-in-aagab-underlie-autosomal-dominant-punctate-palmoplantar-keratoderma
#17
N Dinani, M Ali, L Liu, J McGrath, J Mellerio
Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB.
February 27, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28224164/multiple-primary-acral-lentiginous-melanoma-on-the-feet-developing-in-lesions-of-nagashima-type-palmoplantar-keratoderma
#18
Akimasa Adachi, Mayumi Komine, Takeo Maekawa, Satoru Murata, Aiko Shiohama, Akiharu Kubo, Mamitaro Ohtsuki
No abstract text is available yet for this article.
February 22, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28024685/decreases-in-15-lipoxygenase-metabolites-in-olmsted-syndrome-model-rats
#19
Masato Wakabayashi, Takeshi Yoshioka, Kenichi Higashino, Yoshito Numata, Yasuyuki Igarashi, Akio Kihara
BACKGROUND: Olmsted syndrome (OS) is a congenital dermatosis characterized by palmoplantar keratoderma and periorificial keratotic plaque. TRPV3 (transient receptor potential vanilloid subtype 3) encodes a thermosensitive Ca(2+) channel and is the causative gene of OS. However, the molecular mechanism that causes the pathological development of OS is unclear. OBJECTIVE: We aimed to investigate the molecular mechanisms underlying OS pathology from the perspective of lipid metabolism...
March 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28017832/autosomal-recessive-keratoderma-ichthyosis-deafness-arkid-syndrome-is%C3%A2-caused-by-vps33b-mutations-affecting%C3%A2-rab-protein-interaction-and%C3%A2-collagen-modification
#20
Robert Gruber, Clare Rogerson, Christian Windpassinger, Blerida Banushi, Anna Straatman-Iwanowska, Joanna Hanley, Federico Forneris, Robert Strohal, Peter Ulz, Debra Crumrine, Gopinathan K Menon, Stefan Blunder, Matthias Schmuth, Thomas Müller, Holly Smith, Kevin Mills, Peter Kroisel, Andreas R Janecke, Paul Gissen
In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen-modifying enzyme LH3. Two patients were homozygous for the missense variant p.Gly131Glu, whereas one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome...
April 2017: Journal of Investigative Dermatology
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