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Palmoplantar keratoderma

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https://www.readbyqxmd.com/read/27864007/six-generations-of-epidermolytic-palmoplantar-keratoderma-associated-with-a-krt9-r163w-mutation
#1
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
#2
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
#3
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
#4
Ryo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama
is missing (Short communication).
October 27, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27776012/peripheral-neuropathic-changes-in-pachyonychia-congenita
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27632246/compound-heterozygosity-for-dominant-and-recessive-dsg1-mutations-in-a-patient-with-atypical-sam-syndrome-severe-dermatitis-multiple-allergies-metabolic-wasting
#12
S Dănescu, J Leppert, R Cosgarea, S Zurac, S Pop, A Baican, C Has
SAM syndrome (OMIM 615508), comprising severe dermatitis, multiple allergies and metabolic wasting, was first described by Samuelov et al in 2013(1) . Cutaneous findings consisted of congenital erythroderma, superficial skin erosions, fine scales and palmoplantar keratoderma and were accompanied by extracutaneous findings including perinatal hyponatremia, food allergies, elevated IgE levels, recurrent infections, metabolic wasting, malabsorbtion, esophageal reflux and eosinophilic esophagitis, cardiac defects, microcephaly and development delay (2,3) ...
September 15, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27617465/infantile-epidermolytic-ichthyosis-with-prominent-maternal-palmoplantar-keratoderma
#13
Wallace Austin Smith, Austin Cope, Martin Fernandez, Palak Parekh
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age...
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27559502/pachyonychia-congenita-with-late-onset-pc-tarda
#14
A Sravanthi, P Srivalli, K V T Gopal, T Narayana Rao
Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed hyperkeratotic plaques over both the soles, palmoplantar hyperhidrosis and yellowish discoloration, wedging with subungual hyperkeratosis of all the nails...
July 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27534273/mutations-in-desmoglein-1-cause-diverse-inherited-palmoplantar-keratoderma-phenotypes-implications-for-genetic-screening
#15
M-L Lovgren, M A McAleer, A D Irvine, N J Wilson, S Tavadia, M E Schwartz, C Cole, A Sandilands, F J D Smith, M Zamiri
INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis: striate, focal, diffuse, and punctate. Mutations in desmoglein-1 (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs...
August 18, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27510574/punctate-palmoplantar-keratoderma-type-1-with-a-novel-aagab-frameshift-mutation-intrafamilial-phenotype-variation-due-to-aging
#16
M Kono, K Fukai, N Shimizu, J Nagao, T Takeichi, D Tsuruta, K Sugiura, M Akiyama
Punctate palmoplantar keratoderma type 1A (PPKP1A, OMIM#148600) is a rare form of palmoplantar keratoderma with autosomal dominant inheritance. PPKP1A clinically shows multiple punctate hyperkeratotic papules affecting the palmar and plantar skin(1) . In 2012, heterozygous AAGAB mutations were identified as a cause of PPKP1A(1, 2) . Here we report Japanese familial cases with PPKP1A carrying a novel AAGAB mutation. This article is protected by copyright. All rights reserved.
August 11, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27503413/klick-syndrome-recognizable-phenotype-and-hot-spot-pomp-mutation
#17
F Morice-Picard, N Jonca, M Pichery, Diane Mermin, C Leauté-Labreze, A Taïeb, J Mazereeuw-Hautier, F Boralevi
We described a young patient born from related parents, originary from the southwest of France. Family history was uneventful. The patient was presenting at birth with palmar keratoderma. He developed during the first year of life a diffuse palmoplantar keratoderma associated with progressive sclerosing deformity of the fingers (Fig. 1). At his first examination at the age of 4, he also had a mild ichthyosis with slight white skin scaling and hyperkeratosis predominant on flexural areas (knees, axillary, elbows and neck) (Fig...
August 9, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27477171/keratinization-disorders-and-genetic-aspects-in-palmar-and-plantar-keratodermas
#18
Ewa Stypczyńska, Waldemar Placek, Barbara Zegarska, Rafał Czajkowski
Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C)...
June 2016: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/27409001/lethal-keratitis-ichthyosis-and-deafness-syndrome-due-to-the-a88v-connexin-26-mutation
#19
Carmen Esmer, Julio C Salas-Alanis, Oscar R Fajardo-Ramirez, Brenda Ramírez, Rong Hua, Keith Choate
Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases...
May 2016: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/27408931/aquagenic-palmoplantar-keratoderma-with-dorsal-hand-involvement-in-an-adolescent-female
#20
Divya Angra, Kunal Angra, Ife J Rodney
No abstract text is available yet for this article.
May 2016: JAAD Case Reports
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