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Palmoplantar keratoderma

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https://www.readbyqxmd.com/read/29144042/palmoplantar-keratoderma-with-curly-hair
#1
Sanjay Singh, Prateek Sondhi, Gomathy Sethuraman
No abstract text is available yet for this article.
November 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29140387/full-mouth-rehabilitation-with-calvarium-bone-grafts-and-dental-implants-for-a-papillon-lef%C3%A3-vre-syndrome-patient-case-report
#2
Bassam M Kinaia, Kristyn Hope, Ahmed Zuhaili, Jean Francois Tulasne
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29138053/recessive-mutation-in-fam83g-associated-with-palmoplantar-keratoderma-and-exuberant-scalp-hair
#3
Thiviyani Maruthappu, Lisa A McGinty, Diana C Blaydon, Benjamin Fell, Arto Määttä, Rebecca Duit, Tim Hawkins, Kristin M Braun, Michael A Simpson, Edel A O'Toole, David P Kelsell
No abstract text is available yet for this article.
November 11, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29057425/cutaneous-chronic-graft-versus-host-disease-following-allogeneic-haematopoietic-stem-cell-transplantation-in-children-a-retrospective-study
#4
Rony Shreberk-Hassidim, Michal Neumark, Shoshana Greenberger, Gal Goldstein, Ayal Hassidim, Yuval Dukler, Alexander Maly, Polina Stepensky, Vered Molho-Pessach
Chronic graft versus host disease (cGVHD) is a complication of allogeneic haematopoietic stem cell transplantation (HSCT). The aim of this study was to clinically characterize childhood cutaneous cGVHD. A retrospective study of children treated with HSCT at 2 tertiary medical centres in Israel between 2011 and 2014 was performed. A total of 112 children were included. Cutaneous cGVHD developed in 18% of subjects. Risk factors were older age, HSCT from peripheral blood and acute lymphoblastic leukaemia. The eruption was lichenoid in 90% of subjects, of whom one-third progressed to sclerosis...
October 23, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#5
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29044698/methotrexate-treatment-in-a-case-of-juvenile-pityriasis-rubra-pilaris
#6
Anne H Boyd, Ingrid C Polcari
An 8-year-old boy who was initially diagnosed with plaque psoriasis failed management with topical therapies and skin biopsy confirmed the suspected diagnosis of juvenile pityriasis rubra pilaris (PRP). Pityriasis rubra pilaris is a rare inflammatory disorder of the skin characterized by follicular keratotic papules coalescing into plaques, along with palmoplantar keratoderma. Treatment modalities include topical and systemic therapies, although previous studies have not shown much benefit with methotrexate in children...
October 17, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29023701/identification-of-novel-homozygous-slurp1-mutation-in-a-javanese-family-with-mal-de-meleda
#7
Sunardi Radiono, Zacharias A D Pramono, Glenda G K Oh, Uttam Surana, Syahfori Widiyani, Retno Danarti
BACKGROUND: Mal de Meleda (OMIM# 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP1 gene that encodes secreted lymphocyte antigen 6/urokinase-type plasminogen receptor-related protein 1 (SLURP1). To date no reported cases from Indonesia...
November 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28979865/a-prospective-study-of-clinical-profile-in-patients-of-palmoplantar-dermatoses
#8
Pragya A Nair, Nilofar G Diwan, Rochit Singhal, Rita V Vora
BACKGROUND: Palms and soles are the readily visible areas of the body that are affected in various dermatoses. This may have considerable concern to the patient and can cause diagnostic dilemma. Moreover, palmoplantar dermatoses also limit our day to day activities with a significant impact on quality of life. AIM: To study the clinical profile of patients suffering from palmoplantar dermatoses at a tertiary care centre. PATIENTS AND METHODS: A prospective observational study was carried out from June 2014 to May 2015 in the Department of Dermatology, Venerology and Leprosy at a rural tertiary care centre after taking approval from the institutional ethical committee...
September 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28964718/activation-of-transient-receptor-potential-vanilloid-3-regulates-inflammatory-actions-of-human-epidermal-keratinocytes
#9
Attila Gábor Szöllősi, Nikolett Vasas, Ágnes Angyal, Kornél Kistamás, Péter Pál Nánási, Johanna Mihály, Gabriella Béke, Erika Herczeg-Lisztes, Andrea Szegedi, Naoki Kawada, Takashi Yanagida, Takahiro Mori, Lajos Kemény, Tamás Bíró
Transient receptor potential (TRP) ion channels were first characterized on neurons, where they are classically implicated in sensory functions; however, research in recent decades has shown that many of these channels are also expressed on non-neuronal cell types. Emerging findings have highlighted the role of TRP channels in the skin, where they have been shown to be important in numerous cutaneous functions. Of particular interest is TRPV3, which was first described on keratinocytes. Its functional importance was supported when its gain-of-function mutation was linked to Olmsted syndrome, which is characterized by palmoplantar keratoderma, periorifacial hyperkeratosis, diffuse hypotrichosis and alopecia, as well as itch...
September 27, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28940524/inherited-palmoplantar-keratodermas-the-heart-of-the-matter
#10
L J Thomas, A Freeman, E A O'Toole, J A McGrath, C M Perrett
No abstract text is available yet for this article.
September 22, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28916395/pachydermoperiostosis-the-value-of-molecular-diagnosis
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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