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Palmoplantar keratoderma

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https://www.readbyqxmd.com/read/28916395/pachydermoperiostosis-the-value-of-molecular-diagnosis
#1
V Seta, Y Capri, M Battistella, M Bagot, E Bourrat
BACKGROUND: Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified. PATIENTS AND METHODS: A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the HPGD gene...
September 12, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28885351/a-mal-de-meleda-patient-with-severe-flexion-contractures-of-hands-and-feet-a-case-report-in-west-china
#2
Yun Pan, Hengguang Zhao, Aijun Chen, Xin Huang
RATIONALE: Palmoplantar keratoderma (PPK) is a genetically heterogeneous group of skin diseases, which is characterized by erythema and hyperkeratosis. Mal de Meleda (MDM) is a rare type of PPK with an estimated prevalence in the general population of 1 in 100,000. PATIENT CONCERNS: In this study, we report a MDM patient with severe lesion in skin and flexion contractures of fingers and toes. DIAGNOSES: MDM was diagnosed based on clinical manifestations and gene test...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28872160/a-mild-phenotype-of-sensorineural-hearing-loss-and-palmoplantar-keratoderma-caused-by-a-novel-gjb2-dominant-mutation
#3
I Stanghellini, E Genovese, S Palma, C Falcinelli, L Presutti, A Percesepe
Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmoplantar keratoderma. In all affected members we identified a new heterozygous GJB2 mutation (c.66G > T, p.Lys22Asn) whose segregation, population frequency and in silico prediction analysis have suggested a pathogenic role...
August 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#4
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28859733/hidradenitis-suppurativa-and-concomitant-down-syndrome-literature-review-of-other-associated-mucocutaneous-manifestations-in-adults
#5
Virendra N Sehgal, Naresh Sehgal, Ruchi Sehgal
This contribution describes hidradenitis suppurativa (HS) occurring in Down disease that presented with morphology conforming to an overlap of stages 1 and 2 of the Hurley staging system, namely the formation of solitary or multiple isolated abscesses without scarring or sinus tracts, recurrent abscesses, and single or multiple widely separated lesions with sinus tract formation, occupying apocrine sweat gland-bearing areas: the inner thighs, groin, and buttocks. The lesions were bilateral and symmetrical, of rare occurrence...
2017: Skinmed
https://www.readbyqxmd.com/read/28794556/keratin-17-mutations-in-four-families-from-india-with-pachyonychia-congenita
#6
Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith
Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals...
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28673420/linear-palmoplantar-keratoderma
#7
A Imbernón-Moya, A Aguilar-Martínez, E Vargas-Laguna
No abstract text is available yet for this article.
June 30, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28604957/-molecular-genetic-study-of-a-family-affected-with-punctate-palmoplantar-keratoderma
#8
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
#9
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
#10
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 1 and 10, based on all-atom 3D simulations of keratin primary amino acid sequences, and tyrosine phosphorylation predictions, extracted from published databases. We observed that keratin 1 and 10 end domains are likely to form a tetrameric terminal domain complex incorporating a reversibly extendable region potentially acting as a molecular spring...
September 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28512994/erythema-elevatum-diutinum-presenting-with-palmoplantar-keratoderma
#11
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
#12
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
#13
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
#14
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...
July 2017: Revista Iberoamericana de Micología
https://www.readbyqxmd.com/read/28442872/olmsted-syndrome-in-a-family
#15
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
#16
LETTER
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 signalling 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
#17
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
#18
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-ca-2-permeable-cation-transient-receptor-potential-trpv3-channel-an-emerging-pivotal-target-for-itch-and-skin-diseases
#19
REVIEW
Gongxin Wang, KeWei Wang
Temperature-sensitive transient receptor potential (TRP) channels such as TRPA1 and TRPV1 have been identified as downstream ion channel targets in the transduction of itch. As a member of the temperature-sensitive TRP family, the Ca(2+)-permeable nonselective cation channel TRPV3 is expressed abundantly in skin keratinocytes. Recent identification of gain-of-function mutations of human TRPV3 from patients with Olmsted syndrome, which is characterized by severe itching and palmoplantar and periorificial keratoderma, unveils its crucial role in chronic itch and skin diseases...
September 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28329610/generalized-woolly-hair-with-diventricular-arrythmogenic-cardiomyopathy-a-rare-variant-of-naxos-disease
#20
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
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