3,033 results match your criteria Keratosis Palmaris et Plantaris


Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.

Mol Biol Rep 2020 Jun 29. Epub 2020 Jun 29.

PSG Center for Molecular Medicine & Therapeutics, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, 641 004, India.

Papillon Lefevre syndrome (PLS) manifests with palmoplantar keratoderma, combined with a rapidly progressive periodontitis associated with mutations in Cathepsin C (CTSC) gene. This article reports a 15-year old male proband with typical PLS traits having a novel compound heterozygote with p.Q49X mutation in exon 1 and p. Read More

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http://dx.doi.org/10.1007/s11033-020-05622-0DOI Listing

Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.

J Dermatol 2020 Jun 25. Epub 2020 Jun 25.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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http://dx.doi.org/10.1111/1346-8138.15476DOI Listing

Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.

Am J Hum Genet 2020 Jul 8;107(1):158-163. Epub 2020 Jun 8.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address:

The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmoplantar keratoderma and lamellar ichthyosis, a phenotype that has otherwise been exclusively recessive. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332602PMC
July 2020
10.931 Impact Factor

Annular epidermolytic ichthyosis: a case report and literature review.

An Bras Dermatol 2020 Jul - Aug;95(4):484-489. Epub 2020 May 5.

Dermatology Service, Santa Casa de Misericórdia de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address:

Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who developed migratory, erythematous, scaly plaques associated with palmoplantar keratoderma. The initial hypothesis was erythrokeratodermia variabilis et progressiva; however, the finding of epidermolytic hyperkeratosis in histopathological examination led to the diagnosis of annular epidermolytic ichthyosis. Read More

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http://dx.doi.org/10.1016/j.abd.2019.09.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335885PMC

KLICK Syndrome Linked to a Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.

Front Immunol 2020 30;11:641. Epub 2020 Apr 30.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare autosomal recessive skin disorder characterized by palmoplantar keratoderma, linear hyperkeratotic plaques, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists. Histologically, the affected skin shows hypertrophy and hyperplasia of the spinous, granular, and horny epidermal layers with mild infiltration of inflammatory cells in the upper dermis. There are 14 patients with KLICK syndrome described in the literature, and they all carry the same nucleotide deletion. Read More

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http://dx.doi.org/10.3389/fimmu.2020.00641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203212PMC

Novel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome.

J Dermatol 2020 Jul 28;47(7):779-781. Epub 2020 Apr 28.

Department of Dermatology, West China Hospital of Sichuan University, Chengdu, China.

Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare autosomal recessive disease characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. EDSF syndrome is caused by mutations in the PKP1 gene encoding plakophilin-1, which result in desmosomal abnormality and poor intercellular cohesion between epidermal cells. Herein, we report a novel homozygous deletion of the PKP1 gene in a Chinese boy with EDSF syndrome. Read More

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http://dx.doi.org/10.1111/1346-8138.15364DOI Listing
July 2020
2.354 Impact Factor

A Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis.

Genes (Basel) 2020 Apr 24;11(4). Epub 2020 Apr 24.

School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Read More

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http://dx.doi.org/10.3390/genes11040469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230267PMC

Hyperkeratotic hand eczema: Eczema or not?

Contact Dermatitis 2020 Apr 25. Epub 2020 Apr 25.

Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Background: Hyperkeratotic hand eczema (HHE) is a typical clinical hand eczema subtype with a largely unknown pathophysiology.

Objective: To investigate histopathology, expression of keratins (K), epidermal barrier proteins, and adhesion molecules in HHE.

Methods: Palmar skin biopsies (lesional and perilesional) were obtained from seven HHE patients and two healthy controls. Read More

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http://dx.doi.org/10.1111/cod.13572DOI Listing

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.

Br J Dermatol 2020 Apr 20. Epub 2020 Apr 20.

Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, ERN-Skin, UK.

Background: No specific or curative therapy exists for hereditary palmoplantar keratoderma (hPPK), which can profoundly alter patient quality of life, leading sometimes to severe functional impairment and pain. The rarity and the aetiological diversity of this group of disorders can explain the difficulty in comparing the efficacy of available treatments.

Objectives: To review the different treatments tried in patients with hPPK since 2008, their efficacy and safety, with an evaluation of the various therapeutic modalities that can be used to treat hPPK. Read More

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http://dx.doi.org/10.1111/bjd.19144DOI Listing

Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.

Exp Dermatol 2020 Jun 25;29(6):520-530. Epub 2020 May 25.

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

Background: Desmosomes are intercellular cadherin-mediated adhesion complexes that anchor intermediate filaments to the cell membrane and are required for strong adhesion for tissues under mechanical stress. One specific component of desmosomes is plakophilin 1 (PKP1), which is mainly expressed in the spinous layer of the epidermis. Loss-of-function autosomal recessive mutations in PKP1 result in ectodermal dysplasia-skin fragility (EDSF) syndrome, the initial inherited Mendelian disorder of desmosomes first reported in 1997. Read More

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http://dx.doi.org/10.1111/exd.14096DOI Listing

Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.

J Invest Dermatol 2020 Apr 2. Epub 2020 Apr 2.

Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

Inherited palmoplantar keratodermas refer to a large and heterogeneous group of conditions resulting from abnormal epidermal differentiation and featuring thickening of the skin of the palms and soles. Here, we aimed at delineating the genetic basis of an autosomal recessive form of palmoplantar keratodermas manifesting with erythematous hyperkeratotic plaques over the palms and soles, extending to non-palmoplantar areas. Whole-exome sequencing in affected individuals revealed homozygous nonsense variants in the SERPINA12 gene. Read More

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http://dx.doi.org/10.1016/j.jid.2020.02.030DOI Listing

A role for keratins in supporting mitochondrial organization and function in skin keratinocytes.

Mol Biol Cell 2020 May 26;31(11):1103-1111. Epub 2020 Mar 26.

Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI 48109.

Mitochondria fulfill essential roles in ATP production, metabolic regulation, calcium signaling, generation of reactive oxygen species (ROS), and additional determinants of cellular health. Recent studies have highlighted a role for mitochondria during cell differentiation, including in skin epidermis. The observation of oxidative stress in keratinocytes from null mouse skin, a model for pachyonychia congenita (PC)-associated palmoplantar keratoderma, prompted us to examine the role of Keratin (K) 16 protein and its partner K6 in regulating the structure and function of mitochondria. Read More

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http://dx.doi.org/10.1091/mbc.E19-10-0565DOI Listing
May 2020
4.466 Impact Factor

Abnormal keratinization and cutaneous inflammation in Mal de Meleda.

J Dermatol 2020 May 10;47(5):554-558. Epub 2020 Mar 10.

Department of Dermatology, National Center for Global Health and Medicine, Tokyo, Japan.

Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma due to mutations in the gene, encoding for secreted lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein 1 (SLURP1). We report a four-year-old Taiwanese MDM female case whose biopsy specimen of hyperkeratotic lesions showed abnormal keratinization and cutaneous inflammation with characteristic transmission electron microscopic (TEM) findings and immunostaining results. The patient presented with pruritic and severely hyperkeratotic plaques on the bilateral palms and soles whichwere fringed with erythematous scaly areas. Read More

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http://dx.doi.org/10.1111/1346-8138.15296DOI Listing

Diagnosis and Management of Inherited Palmoplantar Keratodermas.

Acta Derm Venereol 2020 Mar;100(7):adv00094

Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar keratodermas are grouped depending on the morphology of the keratoderma into diffuse, focal/striate or papular/punctate. Some palmoplantar keratodermas just affect the skin of the palms and soles and others have associated syndromic features which include changes in hair, teeth, nails, hearing loss or cardiomyopathy. Read More

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http://dx.doi.org/10.2340/00015555-3430DOI Listing

Ichthyosen im klinischen Alltag: Umgang mit einer seltenen Erkrankungsgruppe.

J Dtsch Dermatol Ges 2020 Mar;18(3):225-245

Klinik für Dermatologie und Venerologie, Universitätsklinikum Münster Reference Center for Ichthyoses and Palmoplantar keratoderma (ReCIP) ERN-Skin.

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http://dx.doi.org/10.1111/ddg.14049_gDOI Listing

A case report of severe dermatitis, allergies, and metabolic wasting (SAM syndrome).

Pediatr Dermatol 2020 May 3;37(3):576-578. Epub 2020 Mar 3.

Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.

The presence of eczema and elevated IgE in pediatric patients does not always indicate atopic dermatitis. Rare genodermatoses may share this clinical presentation and should be considered in the differential diagnosis for patients with congenital immunodeficiency and severe refractory dermatitis. We describe a case of severe dermatitis, allergies, and metabolic wasting syndrome, due to a novel mutation in DSG1 gene, an additional example of this uncommon genetic disorder of desmosome function. Read More

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http://dx.doi.org/10.1111/pde.14129DOI Listing

A Family with Palmar and Plantar Hyperkeratosis: A Quiz.

Acta Derm Venereol 2020 Feb 27;100(4):adv00064. Epub 2020 Feb 27.

Department of Dermatology and Allergology, Philipp University, DE-35043 Marburg, Germany.

is missing (Quiz). Read More

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http://dx.doi.org/10.2340/00015555-3419DOI Listing
February 2020

A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.

Authors:
Z Yang Z Xu N Zhang L Ma

Clin Exp Dermatol 2020 Feb 12. Epub 2020 Feb 12.

Departments of, Department of, Dermatology, Beijing Children's Hospital, Capital Medical University (National Center for Children's Health, China), Beijing, China.

Ichthyosis hystrix, Curth-Macklin type (IHCM) is an extremely rare autosomal dominant dermatosis caused by mutations in the keratin genes, KRT1 or KRT10, which often manifests as extensive, dark, spiky or verrucous plaques and severe palmoplantar keratoderma. We report a novel frameshift truncation mutation, c.1596_1597insAT (p. Read More

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http://dx.doi.org/10.1111/ced.14193DOI Listing
February 2020

An unsual case of palmoplantar keratoderma.

Pediatr Dermatol 2020 Jan;37(1):e17-e19

Department of Dermatology, Reference Centre for Genodermatoses and Rare Skin Disease (MAGEC), Hopital Universitaire Necker-Enfants Malades, APHP, Paris, France.

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http://dx.doi.org/10.1111/pde.14038DOI Listing
January 2020

Palmoplantar Keratoderma with Leukokeratosis Anogenitalis Caused by KDSR Mutations.

J Invest Dermatol 2020 Jan 25. Epub 2020 Jan 25.

Service of Dermatology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.11.029DOI Listing
January 2020

Hyperkeratotic Skin Adverse Events Induced by Anticancer Treatments: A Comprehensive Review.

Drug Saf 2020 May;43(5):395-408

Oncodermatology, Institut Claudius REGAUD and Institut Universitaire du Cancer Toulouse Oncopole, 1 avenue Irène Joliot-Curie 31059, Toulouse Cedex 9, France.

Hyperkeratotic skin adverse events are a group of toxic effects, characterized by the disruption of epidermal homeostasis and interaction with keratinocyte proliferation/differentiation or keratinocyte survival, and frequently reported with systemic anticancer treatments. These types of reactions include hand-foot skin reaction or palmoplantar keratoderma, induced psoriasis, keratosis pilaris-like or pityriasis rubra pilaris-like rashes, Grover's disease, and contact hyperkeratosis. Cutaneous squamoproliferative lesions are also described because of the presence of abnormal keratinocyte proliferation. Read More

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http://dx.doi.org/10.1007/s40264-020-00907-6DOI Listing

Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma.

J Dermatol 2020 Mar 21;47(3):e90-e91. Epub 2020 Jan 21.

Division of Pediatric Dermatology, Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand.

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http://dx.doi.org/10.1111/1346-8138.15236DOI Listing

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Acta Derm Venereol 2020 Feb 25;100(4):adv00060. Epub 2020 Feb 25.

Department of Dermatology and Allergology, University of Helsinki and Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland.

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http://dx.doi.org/10.2340/00015555-3404DOI Listing
February 2020

A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case Report.

Cureus 2020 Jan 2;12(1):e6546. Epub 2020 Jan 2.

Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Jeddah, SAU.

Papillon-Lefèvre syndrome (PLS) is a rare genetic disease that causes dermatological and dental symptoms that usually start from early age. Dermatological findings include hyperkeratoderma over the palms and soles that are usually thought of as persistent psoriasis at first. Dental findings include severe caries in the teeth that lead to premature dental loss. Read More

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http://dx.doi.org/10.7759/cureus.6546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942505PMC
January 2020

Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.

Clin Exp Dermatol 2020 Jul 9;45(5):555-559. Epub 2020 Mar 9.

Department of Medical Genetics, University of Szeged, Szeged, Hungary.

Background: Papillon-Lefévre syndrome (PLS; OMIM 245000) and Haim-Munk syndrome (HMS; OMIM 245010), which are both characterized by palmoplantar hyperkeratosis and periodontitis, are phenotypic variants of the same disease caused by mutations of the cathepsin C (CTSC) gene.

Aim: To identify putative genetic modifying factors responsible for the differential development of the PLS or HMS phenotypes, we investigated two Hungarian patients with different phenotypic variants (PLS and HMS) but carrying the same homozygous nonsense CTSC mutation (c.748C/T; p. Read More

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http://dx.doi.org/10.1111/ced.14171DOI Listing

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.

J Hum Genet 2020 Apr 7;65(4):397-410. Epub 2020 Jan 7.

Department of Dermatology, CHU La Rabta Tunis, 1007, Tunis, Tunisia.

Molecular diagnosis of rare inherited palmoplantar keratoderma (PPK) is still challenging. We investigated at the clinical and genetic level a consanguineous Tunisian family presenting an autosomal dominant atypical form of transgrediens and progrediens PPK to better characterize this ultrarare disease and to identify its molecular etiology. Whole-exome sequencing (WES), filtering strategies, and bioinformatics analysis have been achieved. Read More

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http://dx.doi.org/10.1038/s10038-019-0711-4DOI Listing

Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.

JAMA Dermatol 2020 Jan 2. Epub 2020 Jan 2.

Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Hôpital Necker-Enfants Malades, APHP, Paris, France.

Importance: Olmsted syndrome is a genodermatosis characterized by painful and mutilating palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective treatment. It is most often caused by mutations in the transient receptor potential vanilloid 3 (TRPV3) gene. In animal models and keratinocyte cell lines, TRPV3 signaling leads to epidermal growth factor receptor (EGFR) transactivation. Read More

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http://dx.doi.org/10.1001/jamadermatol.2019.4126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990711PMC
January 2020

Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome.

JAMA Dermatol 2020 Jan 2. Epub 2020 Jan 2.

Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1163, Laboratory of Genetic Skin Diseases, Imagine Institute, Paris, France.

Importance: Olmsted syndrome is a rare and disabling genodermatosis for which no successful treatment is currently available.

Objective: To evaluate the clinical response to the mammalian target of rapamycin (mTOR) inhibitor sirolimus and/or the epidermal growth factor receptor (EGFR) inhibitor erlotinib among patients with Olmsted syndrome.

Design, Setting, And Participants: This case series focused on 4 children with treatment-refractory Olmsted syndrome. Read More

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http://dx.doi.org/10.1001/jamadermatol.2019.4141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990762PMC
January 2020

Analyses of Disease Causing Mutations in Gene.

Ann Clin Lab Sci 2019 Nov;49(6):710-721

Shenyang Dongfang Jinghua Hospital, Shenyang, Liaoning, China

The (secreted LY6/urokinase type plasminogen activator receptor related protein-1) belongs to the gene family of urokinase, a type of plasminogen activator receptor (uPAR). Mutations in the have been reported to cause serious genetic problems of skin, Mal De Meleda, and malignancies. With the advancement of computational tools, it became possible to predict the potential impact of gene variants on the structure and function of protein. Read More

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November 2019
0.839 Impact Factor

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.

Mol Genet Genomic Med 2020 Mar 26;8(3):e1104. Epub 2019 Dec 26.

Faculty of Sciencs of Sfax, Laboratory of Molecular and Functional Genetics, Sfax, Tunisia.

Background: The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane-associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investigate the causative mutation in a consanguineous Tunisian family with a clinical feature of CIE with a yellowish severe palmoplantar keratoderma. Read More

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http://dx.doi.org/10.1002/mgg3.1104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057103PMC

Papillon Lefevre Syndrome.

Tunis Med 2019 Jun;97(6):786-787

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Pityriasis rubra pilaris as a systemic disease.

Clin Dermatol 2019 Nov - Dec;37(6):657-662. Epub 2019 Jul 31.

Department of Dermatology and Venereology, Acibadem City Clinic Tokuda Hospital, Sofia, Bulgaria. Electronic address:

Pityriasis rubra pilaris (PRP) is a rare inflammatory skin disorder of unknown etiology, initially described in 1835. It is characterized by keratotic follicular papules, well-demarcated salmon-colored erythematous scaly plaques interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Is PRP a systemic disease? Skin is mainly affected in PRP. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2019.07.030DOI Listing

Spiny keratoderma: Report of three cases.

J Cosmet Dermatol 2019 Dec 20. Epub 2019 Dec 20.

Sector of Dermatology and Post Graduation Course in Dermatology, University Hospital and School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Background: Spiny keratoderma shows "music box spine" keratotic papules limited to the palms and soles and these lesions do not cause any trouble besides the cosmetic impairment and the sensation of roughness of hands and soles.

Aim: To present cases and review the literature on spiny keratoderma.

Patients/methods, Results: Three cases of spiny keratoderma are presented. Read More

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http://dx.doi.org/10.1111/jocd.13248DOI Listing
December 2019

Loricrin downregulation and epithelial-related disorders: a systematic review.

J Dtsch Dermatol Ges 2019 12 17;17(12):1227-1238. Epub 2019 Dec 17.

School of Dentistry, Faculty of Medecine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.

Loricrin downregulation has been associated with age-related changes as well as inherited and inflammatory skin diseases. We hypothesize that changes in loricrin could be more related to altered barrier function and consequently disorders that affect epithelial cells, such as psoriasis, atopic dermatitis (AD), erythrokeratoderma, loricrin keratoderma (LK) and periodontitis. The aim of this review is to summarize what is known about the association between loricrin downregulation and epithelial-related disorders (ERDs). Read More

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http://dx.doi.org/10.1111/ddg.14001DOI Listing
December 2019

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

Am J Med Genet A 2020 02 17;182(2):296-302. Epub 2019 Dec 17.

Research Laboratory, KK Women's & Children's Hospital, Singapore.

Haim-Munk syndrome (HMS) and Papillon-Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early-onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). There have been only a few documented cases of CTSC mutations in patients from South-East Asia. Read More

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http://dx.doi.org/10.1002/ajmg.a.61447DOI Listing
February 2020

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.

Br J Dermatol 2020 Mar 14;182(3):738-746. Epub 2020 Jan 14.

Department of Dermatology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

Background: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17). The establishment of an international registry containing clinical and molecular data led to the development of a disease classification based on the mutant gene and associated features.

Objectives: To harness the same resource to clarify the prevalence of PC-associated clinical features, delineate phenotype-genotype correlations and identify prognostic features for disease severity. Read More

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http://dx.doi.org/10.1111/bjd.18794DOI Listing

[Atypical Sézary syndrome in a young subject].

Ann Dermatol Venereol 2020 May 2;147(5):355-360. Epub 2019 Dec 2.

Service de dermatologie, université catholique, hôpital Saint-Vincent de Paul, boulevard de Belfort, 59000 Lille, France.

Introduction: Sézary syndrome accounts for 5% of cutaneous T-cell lymphomas, with mean age of onset of 60 years. Erythroderma associated with palmoplantar keratoderma and lymphadenopathy is the usual clinical presentation, but the disease has potentially confusing polymorphic clinical features.

Patients And Methods: We report the case of a 27-year-old patient with no notable disease history, presenting generalized non-pruritic dermatosis for 3 months, with erythema and papules, and follicular distribution, localized to the limbs, the trunk and the face. Read More

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http://dx.doi.org/10.1016/j.annder.2019.10.023DOI Listing
May 2020
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Whole-exome sequencing identifies a homozygous pathogenic variant in in a girl with palmoplantar keratoderma.

Mol Genet Metab Rep 2019 Dec 22;21:100534. Epub 2019 Nov 22.

Clinical Genetics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.

Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identified tyrosinemia type II on whole-exome sequencing in a 7-year-old Syrian refugee that presented with PPK. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881597PMC
December 2019

Paraneoplastic pityriasis rubra pilaris in association with prostate carcinoma: A case report and literature review.

Exp Ther Med 2019 Dec 7;18(6):5052-5055. Epub 2019 Nov 7.

CMI Dermamed, 530540 Târgu Mureş, Romania.

Pityriasis rubra pilaris (PRP) is a chronic papulosquamous disorder of unknown etiology, characterized by reddish orange scaly plaques, islands of sparing, palmoplantar keratoderma, and keratotic follicular papules. The disease can be acquired or inherited, being divided into 5 categories: classic adult type, atypical adult type, classic juvenile type, circumscribed juvenile type, and atypical juvenile type. More recently, an HIV-associated type has been added to this classification. Read More

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http://dx.doi.org/10.3892/etm.2019.8169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880360PMC
December 2019

Acantholytic pityriasis rubra pilaris associated with topical use of imiquimod 5%: case report and literature review.

An Bras Dermatol 2020 Jan - Feb;95(1):63-66. Epub 2019 Nov 23.

Department of Anatomical Pathology, Universidade Estadual de Campinas, Campinas, SP, Brazil.

Topical use of immune response modifiers, such as imiquimod, has increased in dermatology. Although its topical use is well tolerated, it may be associated with exacerbations of generalized cutaneous inflammatory diseases, possibly through the systemic circulation of pro-inflammatory cytokines. This report describes a case of development of pityriasis rubra pilaris, a rare erythematous-papulosquamous dermatosis, in a woman aged 60 years during treatment with imiquimod 5% cream for actinic keratosis. Read More

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http://dx.doi.org/10.1016/j.abd.2019.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058836PMC

G130V de novo mutation in case with nonsyndromic hearing loss without palmoplantar keratoderma.

Int J Pediatr Otorhinolaryngol 2020 02 22;129:109793. Epub 2019 Nov 22.

Dr DY Patil University, Pune, India.

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http://dx.doi.org/10.1016/j.ijporl.2019.109793DOI Listing
February 2020

Palmoplantar keratoderma and perioral keratotic plaques with hypotrichosis in a child.

Pediatr Dermatol 2019 Nov;36(6):942-943

Department of Dermatovenereology, Chengdu Second People's Hospital, Chengdu, China.

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http://dx.doi.org/10.1111/pde.13928DOI Listing
November 2019

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.

Br J Dermatol 2020 Mar 25;182(3):708-713. Epub 2019 Dec 25.

Department of Dermatology, University of Utah, UT, U.S.A.

Background: Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17). Characteristic features of PC are painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis and often oral leukokeratosis. Although oral leukokeratosis can go unnoticed, mucosal involvement of the oral cavity and upper airways can manifest with pain during feeding, hoarseness, stridor and, occasionally, life-threatening obstruction. Read More

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http://dx.doi.org/10.1111/bjd.18742DOI Listing

Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease).

Case Rep Dermatol 2019 Sep-Dec;11(3):292-296. Epub 2019 Oct 10.

Faculty of Health, Medicine and Life Sciences, Maastricht university, Maastricht, The Netherlands.

Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands. The parents are non-consanguineous and none of his family members had similar lesions. Read More

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http://dx.doi.org/10.1159/000503337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873031PMC
October 2019

Pathogenic palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling.

Wellcome Open Res 2019 9;4:133. Epub 2019 Sep 9.

Medical Research Council, Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK.

Two recessive mutations in the gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively. We have previously reported that PAWS1 associates with the Ser/Thr protein kinase CK1α through the DUF1669 domain to mediate canonical Wnt signalling. Co-immunoprecipitation was used to investigate possible changes to PAWS1 interactors caused by the mutations. Read More

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http://dx.doi.org/10.12688/wellcomeopenres.15403.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798324PMC
September 2019

mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome.

Commun Biol 2019 11;2:375. Epub 2019 Oct 11.

1Department of Human Genetics, McGill University, Montreal, QC H4A 3J1 Canada.

Synaptosomal-associated protein 29 () encodes a member of the SNARE family of proteins implicated in numerous intracellular protein trafficking pathways. maps to the 22q11.2 region and is deleted in 90% of patients with 22q11. Read More

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http://dx.doi.org/10.1038/s42003-019-0601-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789041PMC
April 2020
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