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Palmoplantar keratoderma

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https://www.readbyqxmd.com/read/29313942/image-gallery-acquired-palmoplantar-keratoderma-due-to-hypothyroidism
#1
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
#2
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
https://www.readbyqxmd.com/read/29290415/-pityriasis-rubra-pilaris
#3
S Quenan, E Laffitte
Pityriasis rubra pilaris is a rare heterogeneous dermatosis associating three clinical signs to different degrees: follicular corneal papules, reddish-orange palmoplantar keratoderma and erythematosquamous lesions that may in some cases be very extensive, interspersed with patches of healthy skin. The aetiology is unclear, and in most cases, the trigger factors consist of trauma or infection, probably in subjects with an existing predisposition. In other cases, the condition is associated with immunological disorders or, in familial cases, genetic keratinisation abnormalities similar to ichthyosis...
December 28, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29262419/a-novel-homozygous-missense-mutation-in-the-fu-crd2-domain-of-the-r-spondin1-gene-associated-with-familial-46-xx-dsd
#4
Yassine Naasse, Amina Bakhchane, Hicham Charoute, Farida Jennane, Joelle Bignon-Topalovic, Abderrahim Malki, Anu Bashamboo, Abdelhamid Barakat, Hassan Rouba, Ken McElreavey
R-spondin proteins are secreted agonists of canonical WNT/β-catenin signaling. Homozygous RSPO1 mutations cause a syndrome of 46,XX disorder of sexual development (DSD), palmoplantar keratoderma (PPK), and predisposition to squamous cell carcinoma. We report exome sequencing data of two 46,XX siblings, one with testicular DSD and the other with suspected ovotesticular DSD. Both have PPK and hearing impairment and carried a novel homozygous mutation c.332G>A (p.Cys111Tyr) located in the highly conserved furin-like cysteine-rich domain-2 (FU-CRD2)...
December 21, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29231248/slurp-1-is-mutated-in-mal-de-meleda-a-potential-molecular-signature-for-melanoma-and-a-putative-squamous-lineage-tumor-suppressor-gene
#5
Christina Bergqvist, Humam Kadara, Lamiaa Hamie, Georges Nemer, Remi Safi, Mirna Karouni, Nadine Marrouche, Ossama Abbas, Divina J Hasbani, Abdul G Kibbi, Dany Nassar, Yutaka Shimomura, Mazen Kurban
BACKGROUND: Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by palmoplantar keratoderma (PPK) with transgrediens and caused by mutations in the SLURP1 gene. Uncommonly, cutaneous tumors have been found at PPK sites in MDM patients. OBJECTIVE: To study a Middle Eastern family with MDM with both PPK and skin tumors. METHODS: We studied a Middle Eastern (Palestinian) family with clinical features of MDM and cutaneous tumors...
December 12, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29204395/mutilating-keratoderma-with-concomitant-alopecia-and-keratoses-follicularis-spinulosa-decalvans-x-linked-olmsted-syndrome-and-its-response-to-isotretinoin
#6
Gunjan Verma, Kabir Sardana, R K Gautam
We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome. We focus on this uncommon entity (XLO) to highlight the differentials of alopecia with palmoplantar keratoderma.
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29186264/do-you-know-this-syndrome-clouston-syndrome
#7
Sarah Sanches, Priscila Regina Orso Rebellato, Andréa Buosi Fabre, Giovana Liz Marioto de Campos
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings...
May 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29184428/management-of-refractory-pityriasis-rubra-pilaris-challenges-and-solutions
#8
REVIEW
Gaia Moretta, Erika V De Luca, Alessandro Di Stefani
Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory papulosquamous skin disease. Its clinical presentation and evolution is very variable. The most frequent clinical features are follicular papules, progressing to yellow-orange erythroderma with round small areas of normal skin and the well-demarcated palmoplantar keratoderma. Actually, six different types of PRP have been described based on clinical characteristics, age of onset, and prognosis. The pathogenesis is still unknown, and treatment can be challenging...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/29160215/a-case-of-lichen-planus-pemphigoides-with-palmoplantar-keratoderma
#9
Megumi Mizawa, Teruhiko Makino, Masao Hayashi, Fumina Furukawa, Tadamichi Shimizu
No abstract text is available yet for this article.
November 21, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29144042/palmoplantar-keratoderma-with-curly-hair
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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