Presentation
They can also present a stable course or worsen with age (progressive). [scielo.br]
Although the majority are limited to the skin, some present systemic clinical repercussions, above all in the ectodermal derivatives. [doaj.org]
The proband presented with diffuse, symmetrical hyperkeratotic plaques that were yellow and sharply demarcated, covering the entire palms and soles, in addition to marked large and small joint flexibility and skin hyperextensibility. [ncbi.nlm.nih.gov]
Number of Figures: 0 Number of Tables: 0 ISSN: 1018-8665 (Print) eISSN: 1421-9832 (Online) For additional information: Abstract In a retrospective study, we reevaluated the biopsies that had been obtained, during the past 11 years, from 26 patients presenting [karger.com]
Clinically, our patient presented diffuse hyperkeratotic palms and soles with sharp red margins on the side of feet and back of the hands (figure 1… CONTINUE READING [semanticscholar.org]
Skin
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Hyperkeratosis
These findings provide further evidence that mutations in keratin genes may cause epidermolysis and hyperkeratosis and that hyperkeratosis of palms and soles may be caused by different mutations in the KRT9 gene. [nature.com]
A biopsy specimen from the palm revealed features of epidermolytic hyperkeratosis with acanthosis. To our knowledge, this is the first report of PPK in a family with Ehlers-Danlos syndrome. [ncbi.nlm.nih.gov]
KRT5, DSP, LAMB3, LAMA3, LAMC2, PLEC, ITGA3, KRT14, ITGB4, ITGA6, FERMT1, EXPH5, DST, COL17A1, COL7A1, KRT10, KRT1, MMP1 Specificity 6 % Genes 34 % Epidermolytic Hyperkeratosis via KRT1 Gene Sequencing with CNV Detection. [mendelian.co]
The clinical-histopathological evaluation enabled the diagnosis of Vörner type epidermolytic hyperkeratosis. [doaj.org]
Twelve out of 26 biopsies disclosed the histological features of epidermolytic hyperkeratosis, consistent with the diagnosis of epidermolytic PPK of Vörner. [karger.com]
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Keratosis
KRT1 Specificity 100 % Genes 34 % Keratosis palmoplantaris striata III. By Bioarray in Spain. KRT1 Specificity 100 % Genes 34 % Thost-Unna palmoplantar keratoderma. By Bioarray in Spain. [mendelian.co]
Focal palmoplantar keratoderma with oral mucosal hyperkeratosis (also known as "Focal epidermolytic palmoplantar keratoderma," [4] "Hereditary painful callosities," [4] [5] "Hereditary painful callosity syndrome," [1] "Keratosis follicularis," [1] "Keratosis [en.wikipedia.org]
[…] green BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sources Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 Keratosis [panelapp.genomicsengland.co.uk]
Father and daughter cases of Vörner type hereditary palmoplantar keratosis: biochemical analysis of stratum corneum and effect of oral retinoid therapy. [scielo.br]
Diffuse plantar keratosis. MATERIAL AND METHODS Histologic, electron microscopic, and electrophoretic investigations were performed on biopsy specimens of plantar epidermis. [vdocuments.mx]
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Blister
Three histologic patterns have been reported: lichen sclerosus et atrophicus-like, lymphangiectatic blisters and autoimmune blistering diseases. [drmonamofid.com]
KRT1 Specificity 100 % Genes 34 % Genetic Epidermolyses and blistering disorders Panel. By CeGaT GmbH in Germany. [mendelian.co]
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356, 244–246 (1992). 17 Dong, W., Ryynänen, M. & Uitto, J. [nature.com]
In addition the non-syndromic types of ichthyoses encompass the blistering forms of ichthyosis such as epidermolytic ichthyosis (defects of keratin 1 or keratin 10), superficial epidermolytic ichthyosis (keratin 2), annular epidermolytic ichthyosis (keratin [campus.uni-muenster.de]
The affected surface presents an aspect of snakeskin and there can be formation of blisters. [scielo.br]
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Palmoplantar Keratosis
On clinical examination the patient had a diffuse, yellowish, irregular palmoplantar keratosis, demarcated by a thin, erythematous rim strictly limited to the palms and soles (Fig. 1). [vdocuments.mx]
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis [2]. [wikigenes.org]
Father and daughter cases of Vörner type hereditary palmoplantar keratosis: biochemical analysis of stratum corneum and effect of oral retinoid therapy. [scielo.br]
Father and daughter cases of Vorner type hereditary palmoplantar keratosis: Biochemical analysis of stratum corneum and effect of oral retinoid therapy. Jpn J Dermatol 1982;92:751-6. [ PUBMED ] 8. Hamm H, Happle R, Butterfass T, Traupe H. [ijpd.in]
Yoshiike T, Hattori M, Ogawa H (1982) Father and daughter cases of Voerner type hereditary palmoplantar keratosis: biochemical analysis of stratum corneum and effect of oral retinoid therapy. [link.springer.com]
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Pachyonychia
KRT16 Specificity 100 % Genes 34 % Pachyonychia congenita type 1. By Bioarray in Spain. KRT16 Specificity 100 % Genes 34 % Thost-Unna palmoplantar keratoderma. By Bioarray in Spain. KRT16 Specificity 100 % Genes 34 % PACHYONYCHIA CONGENITA. [mendelian.co]
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pachyonychia congenital Pachyonychia Congenita, Type 1 Pachyonychia [panelapp.genomicsengland.co.uk]
It is seen commonly in pachyonychia congenita with prominent nail involvement. [ijpd.in]
Disease Type of connection Keratosis palmoplantaris striata Annular epidermolytic ichthyosis Epidermolytic ichthyosis Ichthyosis hystrix of Curth-Macklin Pachyonychia congenita Juvenile myelomonocytic leukemia Leber congenital amaurosis Megalencephaly [csbg.cnb.csic.es]
[…] recessive) Focal hereditary palmoplantar keratodermas PPK striata/areata type ( autosomal dominant) Hereditary painful callosities ( autosomal dominant) Howel-Evans syndrome or tylosis ( autosomal dominant) Richner-Hanhart syndrome ( autosomal recessive) Pachyonychia [dermnetnz.org]
Treatment
The patient opted to just continue under dermatological observation, without any local or systemic treatment. [scielo.br]
Thus, this study clearly provides further evidence that PPKP1 is caused by AAGAB mutations and that systemic retinoids are the most promising current treatment for PPKP1. [eurekamag.com]
We started a treatment with acitretin 20 mg/day and a local treatment consisting of tretinoin and urea twice a day. [casereports.bmj.com]
Relevancy Score: 272 Murao Kazutoshi - - 2012 Although a wide range of treatments have been used in the treatment of palmoplantar pustulosis (PPP), PPP is still very difficult to treat. [biomedsearch.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
Prognosis depends on the course of the liver disease,which may be positively influenced by a diet of medium-chain triglyceride [54]. [dokumen.tips]
Etiology
[…] hypoplastic type, IG ERVR - See Wagner syndrome Erysipelas Erythema elevatum diutinum Erythema migrans - See Geographic tongue - not a rare disease Erythema multiforme Erythema multiforme bullosum - See Erythema multiforme Erythema nodosum of unknown etiology [elbiruniblogspotcom.blogspot.com]
The following entities may have a considerableclinical or etiological overlap with ichthyoses.Erythrokeratodermia variabilis of Mendel Da Costa(EKV) (OMIM 133200) is due to recessive mutations in thegenes of connexin 31 or 30.3 [77]. [dokumen.tips]
Epidemiology
[…] palmoplantar keratoderma of Voerner - Epidermolytic palmoplantar keratoderma of Vörner Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]
Relevancy Score: 291 Stanimirović A - - 1993 BACKGROUND: Hereditary palmoplantar keratoderma (HPPK), type papulosa, is rare, and epidemiologic data are sporadic and inconsistent. [biomedsearch.com]
Mutations in keratin K9 in kindred with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol 1998; 111 : 12071209.9 Szalai S, Szalai C, Becher K, Torok E. [docslide.com.br]
Genet. (1998) [ Pubmed ] Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. Covello, S.P., Irvine, A.D., McKenna, K.E., Munro, C.S., Nevin, N.C., Smith, F.J., Uitto, J., McLean, W.H. [wikigenes.org]
Pathophysiology
Various tables provide an overview on clinical and/or pathophysiologically related groups of diseases. [rooksdermatology.com]
Thus, from a pathophysiologic pointof view, Netherton syndrome represents the opposite poleof X-linked recessive ichthyosis, which is characterised bya reduced serine protease activity in the epidermis [9]. [dokumen.tips]
Prevention
In bullous congenital ichthyosiform erythroderma Brocq and epidermolytic palmoplantar keratoderma Voerner suprabasal clumping of keratin filaments prevents the normal spreading of keratohyalin between keratin filaments. [link.springer.com]
Early diagnosis and treatment with a diet lowin phytanic acid can prevent the fatal course of the disease [12]. The oxidation of phytanic acid by PhyH is dependenton the Pex7p protein, which is an important peroxisomalreceptor. [dokumen.tips]