Aquagenic palmoplantar keratoderma therapeutic response to topical glycopyrronium
Sign Up to like & getrecommendations! Published in 2021 at "JAAD Case Reports"
DOI: 10.1016/j.jdcr.2021.04.023
Abstract: APK: aquagenic palmoplantar keratoderma INTRODUCTION The pathogenesis of aquagenic palmoplantar keratoderma (APK) is not well understood. Typically, it occurs in those with cystic fibrosis, but idiopathic and drug-induced cases have been reported. Medications associated with… read more here.
Keywords: aquagenic palmoplantar; palmoplantar keratoderma; topical glycopyrronium;
Palmoplantar keratoderma in Slurp1/Slurp2 double-knockout mice.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of dermatological science"
DOI: 10.1016/j.jdermsci.2017.08.014
Abstract: Mutations in SLURP1, encoding a secreted protein of keratinocytes, cause a palmoplantar keratoderma (PPK) known as mal de Meleda [1]. When the link between SLURP1 mutations and mal de Meleda was uncovered, there was speculation… read more here.
Keywords: keratoderma slurp1; slurp1 slurp2; slurp1; palmoplantar keratoderma ... See more keywords
Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2018.0154
Abstract: AIMS To identify potential causative gene mutations in a large Han Chinese pedigree with diffuse nonepidermolytic palmoplantar keratoderma (NEPPK). METHODS We enrolled 11 patients and 8 healthy individuals from a pedigree with NEPPK and 100… read more here.
Keywords: novel splice; chinese pedigree; palmoplantar keratoderma; krt1 ... See more keywords
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.
Sign Up to like & getrecommendations! Published in 2021 at "Human molecular genetics"
DOI: 10.1093/hmg/ddab309
Abstract: Functional skin barrier requires sphingolipid homeostasis. 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene may cause erythrokeratoderma variabilis et… read more here.
Keywords: formation keto; keto type; kdsr mutations; keto ... See more keywords
Acquired palmoplantar keratoderma associated with primary biliary cholangitis: Complete and persistent resolution after ursodeoxycholic acid treatment
Sign Up to like & getrecommendations! Published in 2021 at "Australasian Journal of Dermatology"
DOI: 10.1111/ajd.13765
Abstract: A 57‐year‐old woman presenting an acquired and persisting palmoplantar keratoderma associated with primary biliary cholangitis is reported. Treatment with oral ursodeoxycholic acid was prescribed, and a complete and persistent resolution of skin lesions was noted.… read more here.
Keywords: keratoderma associated; biliary cholangitis; palmoplantar keratoderma; primary biliary ... See more keywords
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Dermatology"
DOI: 10.1111/bjd.17839
Abstract: Striate palmoplantar keratoderma (SPPK) (OMIM 148700) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of the volar aspects of the fingers extending onto the palm, associated with focal to diffuse hyperkeratosis of the soles.1… read more here.
Keywords: palmoplantar; novel mutations; palmoplantar keratoderma; desmoglein focal ... See more keywords
An unusual manifestation of X‐linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma
Sign Up to like & getrecommendations! Published in 2019 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.14096
Abstract: We present a case of genetically confirmed X-linked ectodermal dysplasia (XHED) with the unusual clinical manifestation of palmoplantar keratoderma. Hypohidrotic ectodermal dysplasia (HED, also known as Christ-Siemens-Tourraine syndrome) is characterised by the triad of hypodontia,… read more here.
Keywords: manifestation; palmoplantar keratoderma; ectodermal dysplasia;
Atypical presentation of localized insulin‐derived amyloidosis as protruding brownish skin tumours
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DOI: 10.1111/ced.14097
Abstract: to phenotypic features. A clinically useful division into two groups can be made by the absence or presence of sweating: hypohidrotic and hidrotic. However, with increasing understanding of the genetics and molecular aetiology, classification by… read more here.
Keywords: atypical presentation; localized insulin; genetics; palmoplantar keratoderma ... See more keywords
Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
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DOI: 10.1111/exd.14774
Abstract: Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counselling. Lanosterol synthase (LSS) gene encodes LSS involved in the biosynthesis pathway of cholesterol. Biallelic mutations in… read more here.
Keywords: mutilating palmoplantar; biallelic mutations; palmoplantar; mutations lss ... See more keywords
Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.13906
Abstract: by local T-cell cytotoxic response, which is developed against the external materials used in the treatment. Another case reported by Kowing et al. is madarosis and facial alopecia secondary to botulinum A toxin injection for… read more here.
Keywords: aagab frameshift; type novel; keratoderma type; palmoplantar keratoderma ... See more keywords
Palmoplantar keratoderma: creating a disease burden questionnaire
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.15563
Abstract: Palmoplantar keratoderma (PPK) constitutes a heterogenous group of disorders that may be further subdivided into hereditary and acquired forms, characterized by hyperkeratosis of the palm and sole skin [1,2]. In recent years, the exponentially increasing… read more here.
Keywords: keratoderma creating; creating disease; palmoplantar keratoderma; palmoplantar ... See more keywords