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    NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.
    Biochem Biophys Res Commun 2018 Feb 15. Epub 2018 Feb 15.
    School of Molecular Cell Biology, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 6997801, Israel. Electronic address:
    Intracellular membrane fusion depends on the presence of specific mediators, the vesicle (v-) and the target (t-) SNAREs (Soluble N-ethylmaleimide-sensitive factor, NSF, attachment protein SNAP receptors), whose interaction brings apposing membranes to close proximity and initiates their fusion. SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and affects structure of organelles such as the Golgi apparatus and focal adhesions. Mutations in SNAP29 gene result in CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma) syndrome. Read More

    Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.
    Yonsei Med J 2018 Mar;59(2):341-344
    Department of Dermatology, Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
    Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic 'gain-of-function' mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear. Read More

    The keratin 16 null phenotype is modestly impacted by genetic strain background in mice.
    Exp Dermatol 2018 Feb 6. Epub 2018 Feb 6.
    Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD.
    The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly-acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16mice develop oral lesions early after birth and PC-like PPK lesions as young adults. Read More

    Hereditary palmoplantar keratodermas. Part II. Syndromic palmoplantar keratodermas. Diagnostic algorithm and principles of therapy.
    J Eur Acad Dermatol Venereol 2018 Feb 3. Epub 2018 Feb 3.
    Genetic and Rare Diseases Research Area and Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, piazza Sant', Onofrio 4, 00165 Rome, Italy.
    Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Read More

    Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.
    PLoS Genet 2018 Jan 22;14(1):e1007168. Epub 2018 Jan 22.
    Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States of America.
    Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. Read More

    Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.
    Br J Dermatol 2018 Jan 6. Epub 2018 Jan 6.
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    palmoplantar keratodermas (PPKs, OMIM #144200) refer to a large phenotypically and genetically heterogeneous group of keratinisation disorders characterised by marked hyperkeratosis on the surface of the palms and soles. This article is protected by copyright. All rights reserved. Read More

    A Review on Pityriasis Rubra Pilaris.
    Am J Clin Dermatol 2018 Jan 4. Epub 2018 Jan 4.
    National Skin Centre, 1 Mandalay Rd, Singapore, 308205, Republic of Singapore.
    Pityriasis rubra pilaris (PRP) is an idiopathic, papulosquamous inflammatory dermatosis. It is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. PRP can be subdivided into six clinical subtypes according to Griffiths' classification, based on age of onset, disease extent, prognosis, and other associated features. Read More

    [Pityriasis rubra pilaris].
    Ann Dermatol Venereol 2018 Jan 28;145(1):50-59. Epub 2017 Dec 28.
    Service de dermatologie, hôpitaux universitaires de Genève (HUG), 1211 Genève, Suisse.
    Pityriasis rubra pilaris is a rare heterogeneous dermatosis associating three clinical signs to different degrees: follicular corneal papules, reddish-orange palmoplantar keratoderma and erythematosquamous lesions that may in some cases be very extensive, interspersed with patches of healthy skin. The aetiology is unclear, and in most cases, the trigger factors consist of trauma or infection, probably in subjects with an existing predisposition. In other cases, the condition is associated with immunological disorders or, in familial cases, genetic keratinisation abnormalities similar to ichthyosis. Read More

    Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations.
    An Bras Dermatol 2017 ;92(5 Suppl 1):154-158
    Department of Medical Genetics, University of Antwerp, Universiteitsplein - Antwerp, Belgium.
    Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous family. The patients presented unique clinical features that were different from other known Inherited Palmoplantar Keratodermas -hearing loss syndromes. Read More

    A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.
    Sex Dev 2017 Dec 21. Epub 2017 Dec 21.
    Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco.
    R-spondin proteins are secreted agonists of canonical WNT/β-catenin signaling. Homozygous RSPO1 mutations cause a syndrome of 46,XX disorder of sexual development (DSD), palmoplantar keratoderma (PPK), and predisposition to squamous cell carcinoma. We report exome sequencing data of two 46,XX siblings, one with testicular DSD and the other with suspected ovotesticular DSD. Read More

    SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene.
    Int J Dermatol 2018 Feb 12;57(2):162-170. Epub 2017 Dec 12.
    Department of Dermatology, American University of Beirut, Beirut, Lebanon.
    Background: Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized by palmoplantar keratoderma (PPK) with transgrediens and caused by mutations in the SLURP1 gene. Uncommonly, cutaneous tumors have been found at PPK sites in MDM patients.

    Objective: To study a Middle Eastern family with MDM with both PPK and skin tumors. Read More

    Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin.
    Indian Dermatol Online J 2017 Nov-Dec;8(6):482-484
    Department of Dermatology, PGIMER and Dr Ram Manohar Lohia Hospital, New Delhi, India.
    We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome. We focus on this uncommon entity (XLO) to highlight the differentials of alopecia with palmoplantar keratoderma. Read More

    Do you know this syndrome? Clouston syndrome.
    An Bras Dermatol 2017 May-Jun;92(3):417-418
    Dermatology Outpatient Clinic, Hospital Universitário Evangélico de Curitiba, Faculdade Evangélica do Paraná (HUEC-FEPAR) - Curitiba (PR) Brazil.
    Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. Read More

    Management of refractory pityriasis rubra pilaris: challenges and solutions.
    Clin Cosmet Investig Dermatol 2017 9;10:451-457. Epub 2017 Nov 9.
    Institute of Dermatology, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.
    Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory papulosquamous skin disease. Its clinical presentation and evolution is very variable. The most frequent clinical features are follicular papules, progressing to yellow-orange erythroderma with round small areas of normal skin and the well-demarcated palmoplantar keratoderma. Read More

    Full-Mouth Rehabilitation with Calvarium Bone Grafts and Dental Implants for a Papillon-Lefèvre Syndrome Patient: Case Report.
    Int J Oral Maxillofac Implants 2017 Nov/Dec;32(6):e259-e264
    Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth. Read More

    THE NON-NEURONAL AND NON-MUSCULAR EFFECTS OF BOTULINUM TOXIN: A Graceful Opportunity for a Deadly Molecule to Treat a Human Disease in the Skin and Beyond.
    Br J Dermatol 2017 Oct 31. Epub 2017 Oct 31.
    Department of Dermatology, University of California, Irvine, CA, USA.
    There is growing evidence that botulinum neurotoxins (BoNTs) exhibit biological effects on various human cell types with a host of associated clinical implications. The BoNT receptors and intracellular targets are not unique for neurotransmission. They have been found in both neuronal and non-neuronal cells, but there are differences in the way BoNT binds to, and acts on neuronal vs. Read More

    Cutaneous Chronic Graft Versus Host Disease Following Allogeneic Haematopoietic Stem Cell Transplantation in Children: A Retrospective Study.
    Acta Derm Venereol 2018 Feb;98(2):206-211
    Department of Dermatology, Hadassah-Hebrew University Medical Center, Kiryat Hadassah, POB 12000, Jerusalem, 9112001, Israel.
    Chronic graft versus host disease (cGVHD) is a complication of allogeneic haematopoietic stem cell transplantation (HSCT). The aim of this study was to clinically characterize childhood cutaneous cGVHD. A retrospective study of children treated with HSCT at 2 tertiary medical centres in Israel between 2011 and 2014 was performed. Read More

    CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.
    Child Neurol Open 2017 Jan-Dec;4:2329048X17733214. Epub 2017 Oct 8.
    Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
    Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in thegene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11. Read More

    Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.
    J Dermatol 2018 Feb 17;45(2):e45-e46. Epub 2017 Oct 17.
    Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, China.

    Methotrexate treatment in a case of juvenile pityriasis rubra pilaris.
    Pediatr Dermatol 2018 Jan 17;35(1):e62-e63. Epub 2017 Oct 17.
    Department of Pediatric Dermatology, University of Minnesota, Minneapolis, MN, USA.
    An 8-year-old boy who was initially diagnosed with plaque psoriasis failed management with topical therapies and skin biopsy confirmed the suspected diagnosis of juvenile pityriasis rubra pilaris (PRP). Pityriasis rubra pilaris is a rare inflammatory disorder of the skin characterized by follicular keratotic papules coalescing into plaques, along with palmoplantar keratoderma. Treatment modalities include topical and systemic therapies, although previous studies have not shown much benefit with methotrexate in children. Read More

    Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.
    Int J Dermatol 2017 Nov;56(11):1161-1168
    Department of Dermatology and Venereology, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
    Background: Mal de Meleda (OMIM# 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP1 gene that encodes secreted lymphocyte antigen 6/urokinase-type plasminogen receptor-related protein 1 (SLURP1). To date no reported cases from Indonesia. Read More

    Palmoplantar keratoderma in Slurp1/Slurp2 double-knockout mice.
    J Dermatol Sci 2018 Jan 28;89(1):85-87. Epub 2017 Sep 28.
    From the Divisions of Cardiology in the Department of Medicine , David Geffen School of Medicine, University of California, Los Angeles, CA 90095, United States; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, United States. Electronic address:

    A Prospective Study of Clinical Profile in Patients of Palmoplantar Dermatoses.
    Indian Dermatol Online J 2017 Sep-Oct;8(5):331-335
    Department of Dermatology, Pramukh Swami Medical College, Karamsad, Gujarat, India.
    Background: Palms and soles are the readily visible areas of the body that are affected in various dermatoses. This may have considerable concern to the patient and can cause diagnostic dilemma. Moreover, palmoplantar dermatoses also limit our day to day activities with a significant impact on quality of life. Read More

    Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes.
    J Invest Dermatol 2018 Feb 28;138(2):365-374. Epub 2017 Sep 28.
    Department of Physiology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Department of Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
    Transient receptor potential (TRP) ion channels were first characterized on neurons, where they are classically implicated in sensory functions; however, research in recent decades has shown that many of these channels are also expressed on nonneuronal cell types. Emerging findings have highlighted the role of TRP channels in the skin, where they have been shown to be important in numerous cutaneous functions. Of particular interest is TRPV3, which was first described on keratinocytes. Read More

    Exome sequencing identifies a TCF4 mutation in a Chinese pedigree with symmetrical acral keratoderma.
    J Eur Acad Dermatol Venereol 2017 Sep 18. Epub 2017 Sep 18.
    Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, Guangdong Provice, China.
    Background: Symmetrical acral keratoderma (SAK) is a rare skin disorder and its pathogenesis and inheritability are unknown.

    Objectives: To investigate the inheritance and pathogenesis of SAK.

    Methods: Four SAK cases occurred in a four-generation Chinese family. Read More

    Pachydermoperiostosis: The value of molecular diagnosis.
    Ann Dermatol Venereol 2017 Dec 12;144(12):799-803. Epub 2017 Sep 12.
    Department of Dermatology, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75475 Paris cedex 10, France; MAGEC, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75475 Paris cedex 10, France. Electronic address:
    Background: Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified.

    Patients And Methods: A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. Read More

    A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China.
    Medicine (Baltimore) 2017 Sep;96(36):e7972
    aDepartment of Dermatology, The First Affiliated Hospital of Chongqing Medical University bDepartment of Traditional Chinese Medicine, Chongqing Medical University, Chongqing, China.
    Rationale: Palmoplantar keratoderma (PPK) is a genetically heterogeneous group of skin diseases, which is characterized by erythema and hyperkeratosis. Mal de Meleda (MDM) is a rare type of PPK with an estimated prevalence in the general population of 1 in 100,000.

    Patient Concerns: In this study, we report a MDM patient with severe lesion in skin and flexion contractures of fingers and toes. Read More

    A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
    Acta Otorhinolaryngol Ital 2017 Aug;37(4):308-311
    Medical Genetics Unit, Department of Mother & Child, University Hospital of Modena, Modena, Italy.
    Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmoplantar keratoderma. In all affected members we identified a new heterozygous GJB2 mutation (c. Read More

    Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.
    Acta Dermatovenerol Croat 2017 Jul;25(2):161-163
    Assist. Prof. Tasleem Arif, MD, MBSS (Dermatology, STD AND Leprosy) Postgraduate Department of Dermatology, STDs and Leprosy Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India;
    Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy. Read More

    Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
    Indian J Dermatol 2017 Jul-Aug;62(4):422-426
    School of Life Sciences, Division of Biological Chemistry and Drug Discovery, Dermatology and Genetic Medicine, University of Dundee, Dundee, UK.
    Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes,,,,, or. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Read More

    Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
    J Invest Dermatol 2017 Nov 31;137(11):2344-2353. Epub 2017 Jul 31.
    St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK; Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK. Electronic address:
    Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms, soles, and anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin. Read More

    [Molecular genetic study of a family affected with punctate palmoplantar keratoderma].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Jun;34(3):369-372
    Department of Dermatology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
    Objective: To analyze the clinical characteristics and causative mutation in an ethnic Han Chinese family affected with punctate palmoplantar keratoderma (PPPK).

    Methods: Clinical characteristics and inheritance pattern of the family were analyzed. Two seriously affected individuals from the family were investigated by whole exome sequencing. Read More

    Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice.
    Cell Death Dis 2017 Jun 1;8(6):e2845. Epub 2017 Jun 1.
    Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.
    Several mutant mice have been generated to model connexin (Cx)-linked skin diseases; however, the role of connexins in skin maintenance and during wound healing remains to be fully elucidated. Here we generated a novel, viable, and fertile mouse (Cx26) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. This mutant mouse mirrors several Cx26-linked human skin pathologies suggesting that the etiology of Cx26-linked skin disease indeed stems from epidermal expression of the Cx26 mutant. Read More

    PIGO deficiency: palmoplantar keratoderma and novel mutations.
    Orphanet J Rare Dis 2017 May 25;12(1):101. Epub 2017 May 25.
    Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.
    Background: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. Read More

    Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma.
    J Invest Dermatol 2017 Sep 16;137(9):1914-1923. Epub 2017 May 16.
    Institute of Medical Biology (A*STAR) & Skin Research Institute of Singapore, Immunos, Singapore. Electronic address:
    The terminal domains of suprabasal keratins of the skin epithelium are very resistant to evidence-based structural analysis because of their inherent flexibility and lack of predictable structure. We present a model for the structure and interactions of the head and tail domains of epidermal keratins 1 and 10, based on all-atom 3D simulations of keratin primary amino acid sequences, and tyrosine phosphorylation predictions, extracted from published databases. We observed that keratin 1 and 10 end domains are likely to form a tetrameric terminal domain complex incorporating a reversibly extendable region potentially acting as a molecular spring. Read More

    Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report.
    Case Rep Dermatol 2017 Jan-Apr;9(1):86-89. Epub 2017 Mar 29.
    bAtopy (Allergy) Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.
    Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface. Read More

    Electrical Storm or Naxos Syndrome in an Adult Causing Recurrent Syncope.
    J Coll Physicians Surg Pak 2017 Apr;27(4):250-251
    Department of Cardiology, Punjab Institute of Cardiology, Lahore.
    Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized and important cause of sudden cardiac death. Two rare variants of arrhythmogenic right ventricular cardiomyopathy are Carvajal syndrome and Naxos syndrome. Read More

    Exfoliative erythroderma and palmoplantar hyperkeratosis associated with Majocchi's granuloma by Trichophyton tonsurans in a patient with AIDS.
    Rev Iberoam Micol 2017 Jul - Sep;34(3):185-188. Epub 2017 Apr 25.
    Dermatology, Hospital Geral Policlínica do Rio de Janeiro and Instituto Nacional de Infectologia (INI) Fundação Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil.
    Background: Dermatophytoses are skin superficial mycoses in which clinical manifestations are directly related to the virulence of the infecting microorganism or the host immunity.

    Case Report: We describe a severe case of dermatophytosis associated with exfoliative erythroderma, substantial palmoplantar keratoderma, onychodystrophy affecting all nails, diffuse non-scarring alopecia and tissue fungal invasion by Trichophyton tonsurans, which led us to the diagnosis of AIDS. Direct examination and culture for fungi from skin scraping from two different sites were performed. Read More

    Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
    Am J Hum Genet 2017 May 27;100(5):737-750. Epub 2017 Apr 27.
    Division of Human Genetics, School of Pathology and the Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa. Electronic address:
    Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was previously mapped to 8p23.1-p22 (KWE critical region) in South African families. Read More

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