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Palmoplantar keratoderma

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https://www.readbyqxmd.com/read/28301045/beneficial-effect-of-ustekinumab-in-familial-pityriasis-rubra-pilaris-with-a-new-missense-mutation-in-card14
#1
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
#2
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
#3
Akimasa Adachi, Mayumi Komine, Takeo Maekawa, Satoru Murata, Aiko Shiohama, Akiharu Kubo, Mamitaro Ohtsuki
is missing (Short communication).
February 22, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28024685/decreases-in-15-lipoxygenase-metabolites-in-olmsted-syndrome-model-rats
#4
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
#5
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...
December 23, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28008647/palmoplantar-keratoderma-in-costello-syndrome-responsive-to-acitretin
#6
Nareh V Marukian, Jonathan L Levinsohn, Brittany G Craiglow, Leonard M Milstone, Keith A Choate
Costello syndrome (CS) is a multisystem congenital disorder characterized by coarse facial features, cardiac defects, intellectual disability, and predisposition to malignancies. Dermatologic findings can include cutaneous papillomas, skin redundancy, acanthosis nigricans, and keratosis pilaris. Palmoplantar keratoderma (PPK) is present in approximately 76% of patients with CS, with disabling functional consequences in severe cases. We report a case of CS with severe PPK that improved dramatically with systemic administration of acitretin 0...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/27982550/desmosomes-and-corneodesmosomes-and-their-relevance-to-genetic-skin-diseases
#7
Akemi Ishida-Yamamoto, Mari Kishibe, Masaru Honma
Desmosomes are critical intercellular junctions between keratinocytes in the living cell layers of the epidermis. When the cells are differentiated and become cornified cells, desmosomes are transformed into corneodesmosomes. Distribution patterns of corneodesmosomes change with cell development. Namely, in the lower stratum corneum, corneodesmosomes are seen all around the cell membrane, but in the upper layers, they are only found at the edges of the flattened cells. Recently, it has been proposed that tight junction-derived structures are involved in this unique distribution of corneodesmosomes by protecting corneodesmosome degradation from proteases...
April 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/27938812/acral-manifestations-of-paraneoplastic-and-collagen-vascular-diseases
#8
Ülker Gül
The skin often signals a number of systemic disease, making skin findings of paramount significance. Paraneoplastic diseases and collagen vascular diseases are vitally important illnesses. Paraneoplastic diseases and collagen vascular diseases may also occur with many different acral skin findings. Paraneoplastic skin diseases, associated with some cancers, are by definition nonmalignant skin disorders. These diseases can occur before, simultaneously, or after the diagnosis of cancer. Acral paraneoplastic diseases include acanthosis nigricans maligna, acquired pachydermatoglyphia, acrokeratosis paraneoplastica, palmoplantar keratoderma, and paraneoplastic nail disorders...
January 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#9
C Chiaverini, E Bourrat, J Mazereeuw-Hautier, S Hadj-Rabia, C Bodemer, J-P Lacour
Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome...
January 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27864007/six-generations-of-epidermolytic-palmoplantar-keratoderma-associated-with-a-krt9-r163w-mutation
#10
Peng Wang, Xiao-Jing Kang, Xiao-Hui Tang, Jian-Yong Liu, Wen-Zheng Li, Wei-Jia Wang, Sheng-Nan Liang, Yan-Yan Feng, Yuan Ding, Wen-Jing Chen
Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology.WES analysis was undertaken on two individuals from a large Uygur EPPK pedigree whose disease locus mapped to 17q21...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27795791/-late-onset-dermatophytic-disease
#11
Christelle Natacha Ebongo Aboutou, Fouzia Hali, Soumya Chihab
Dermatophytic disease, described for the first time in 1959 by Hadida and Schousboe, is a chronic dermatophyte infection of the skin and viscera. It is a rare disease occurring mainly in Maghreb. Immunological studies have highlighted a deficit of cellular immunity with autosomal recessive transmission responsible for tolerance to dermatophyte. The first signs of this disease usually occur during childhood. Our patient suffered from pachyonychia affecting all his nails and erythematous, circinate, pruritic, scaly lesions occurring in all his seed coat from the age of 50 years...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27795780/-pachyonychia-congenita-associated-with-renal-artery-stenosis-and-bronchiectasis
#12
El Alaoui Ismaili Fatiha, Chemlal Abdeljalil, Karimi Ilham, Benabdellah Nawal, Bentata Yassamine, Zizi Nada, Benajiba Nafissa, Haddiya Intissar
Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. The diagnosis of pachyonychia congenita was retained based on clinical and histological data. However the presence of renal artery stenosis and bronchiectasis suggests a possible association as part of a particular syndromic group...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27786350/striate-palmoplantar-keratoderma-showing-transgrediens-in-a-patient-harbouring-heterozygous-nonsense-mutations-in-both-dsg1-and-serpinb7
#13
Ryo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama
is missing (Short communication).
March 10, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27776012/peripheral-neuropathic-changes-in-pachyonychia-congenita
#14
Baohan Pan, Kelly Byrnes, Mary Schwartz, C David Hansen, Claudia M Campbell, Malvina Krupiczojc, Michael J Caterina, Michael Polydefkis
We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corresponding locations in 10 control subjects. Tissue was processed to visualize intraepidermal nerve fibers (IENF) (PGP9...
October 20, 2016: Pain
https://www.readbyqxmd.com/read/27747171/cardiocutaneous-syndrome-naxos-disease-in-a-bangladeshi-boy
#15
Akm Monwarul Islam, Md Toufiqur Rahman, Abu Hana Chowdhury
Naxos disease is a rare autosomal recessive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with woolly hair and palmoplantar keratoderma. The cardiomyopathy presents by adolescence with syncope, ventricular tachycardia (VT) of left bundle branch block (LBBB) morphology, and/or ventricular fibrillation. The diagnosis and management of ARVC are at present in evolution; the recently published modified Task Force Criteria for diagnosis and International Task Force consensus statement for treatment of ARVC will hopefully bring about uniformity in recognition and management of Naxos disease as well...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27739122/efficacy-of-ustekinumab-after-failure-of-infliximab-ct-p13-in-a-hla-cw6-positive-patient-affected-by-pityriasis-rubra-pilaris-monitoring-with-reflectance-confocal-microscopy-rcm-and-optical-coherence-tomography-oct
#16
LETTER
A Paganelli, S Ciardo, G Odorici, G Pellacani, A Conti
No abstract text is available yet for this article.
October 14, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27730036/christ-siemens-touraine-syndrome-with-palmoplantar-keratoderma-a-rare-association
#17
Sunil K Kothiwala, Mahesh Prajapat, C M Kuldeep
Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association.
September 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27726289/a-novel-mutation-of-krt9-gene-in-a-chinese-han-pedigree-with-epidermolytic-palmoplantar-keratoderma
#18
Nan Chen, Jingying Sun, Yali Song, Xinjing Wei, Yan Shi, Li Zhang
BACKGROUND: Mutations of keratin 9 (KRT9) gene is a hot research area of epidermolytic palmoplantar keratoderma (EPPK). AIMS: To identify the genes caused the EPPK of a Chinese family. PATIENTS/METHODS: Three cases of lesions were collected for pathological examination. Genomic DNA was extracted from peripheral blood samples of six patients and five healthy individuals and 100 unrelated individuals. Polymerase chain reaction (PCR) was used to amplify exons 1 of KRT9 gene...
October 10, 2016: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/27666198/nagashima-type-palmoplantar-keratosis-in-a-chinese-han-population
#19
Jia Zhang, Guolong Zhang, Cheng Ni, Ruhong Cheng, Jianying Liang, Ming Li, Zhirong Yao
Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c...
November 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27639257/palmoplantar-keratoderma-and-charcot-marie-tooth-combination-of-two-independent-genetic-diseases-identification-of-two-point-mutations-in-cmt2-and-ppk-genes-by-whole-exome-sequencing
#20
S Gagliardi, I Ricca, A Ferrarini, M Valente, G S Grieco, G Piccolo, E Alfonsi, M Delledonne, C Cereda
IMPORTANCE: In the eighties a clinical and familiar condition in which two different diseases Charcot-Marie-Tooth Disease type 2 (CMT2), and Palmoplantar Keratoderma (PPK) seemed to define an interesting complex phenotype (OMIM 148360) has been described. The regular association of this phenotype and the autosomal dominant trait has suggested that this clinical condition was expression of the same mutant gene. Exome analysis has been performed in an Italian family which members were affected by CMT2, PPK and CMT/PPK...
September 17, 2016: British Journal of Dermatology
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