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    2773 results match your criteria Keratosis Palmaris et Plantaris

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    Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
    PLoS One 2018 24;13(4):e0195792. Epub 2018 Apr 24.
    Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome, Italy.
    Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the affected skin, whereas epidermolysis and clumping of tonofilaments, as seen in EI, are absent. While IH-CM is associated with mutations in the keratin 1 (KRT1) gene, reports to date have indicated that mutations in the KRT1 gene result in an aberrant and truncated protein tail, essentially affecting the function of the V2 domain. Read More

    Olmsted Syndrome with Lateral Supraciliary Madarosis and Clubbing: A Rare Case Report.
    Indian Dermatol Online J 2018 Mar-Apr;9(2):114-116
    Department of Skin and V.D, Patna Medical College and Hospital, Patna, Bihar, India.
    Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy who presented with keratoderma of the palm and soles since childhood with lateral supraciliary madarosis and clubbing. Read More

    Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.
    Pediatr Dermatol 2018 Apr 6. Epub 2018 Apr 6.
    Department of Dermatology, School of Medicine, Indiana University, Indianapolis, IN, USA.
    Desmoplakin mutations are associated with a wide variety of phenotypes affecting the skin, nails, hair, and heart. A 21-month-old boy was born with multiple erosions resembling epidermolysis bullosa, complete alopecia, nail dystrophy, palmoplantar keratoderma, and areas of follicular hyperkeratosis. He was found to have two heterozygous mutations in the desmoplakin gene: c. Read More

    A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma.
    J Cosmet Dermatol 2018 Apr 1. Epub 2018 Apr 1.
    Department of Dermatology, China-Japan Friendship Hospital, Beijing, China.
    Background: Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK).

    Aims: To better understand the relationship between PPK and the gene mutations in DSP.

    Methods: A pedigree of PPK was subjected to heterozygous missense mutation analysis in the DSP gene. Read More

    SAM syndrome is characterized by extensive phenotypic heterogeneity.
    Exp Dermatol 2018 Mar 31. Epub 2018 Mar 31.
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma. We present 3 new cases of SAM syndrome in 2 families and review the cases published so far. Read More

    Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
    Am J Med Genet A 2018 Apr;176(4):945-950
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
    Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of inherited sensorineural deafness. The majority of these variants are associated with autosomal recessive inheritance; however, rare reports of dominantly co-segregating variants have been published. Read More

    Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
    Am J Med Genet A 2018 Apr;176(4):1006-1010
    Department of Medical Genetics, Nizam's Institute of Medical Genetics, Hyderabad, Telangana, India.
    Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive form of SRY-negative 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 acts by activating the canonical β-catenin pathway and is one of the most important genes controlling female gonadal differentiation. Read More

    p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response.
    Nat Commun 2018 Mar 9;9(1):1021. Epub 2018 Mar 9.
    Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
    Hyperproliferative keratinocytes induced by trauma, hyperkeratosis and/or inflammation display molecular signatures similar to those of palmoplantar epidermis. Inherited gain-of-function mutations in RHBDF2 (encoding iRHOM2) are associated with a hyperproliferative palmoplantar keratoderma and squamous oesophageal cancer syndrome (termed TOC). In contrast, genetic ablation of rhbdf2 in mice leads to a thinning of the mammalian footpad, and reduces keratinocyte hyperproliferation and migration. Read More

    Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid.
    J Dermatol 2018 Mar 3. Epub 2018 Mar 3.
    Department of Dermatology, Gyeongsang National University School of Medicine, Jinju, South Korea.
    Palmoplantar keratodermas (PPK) are heterogeneous disorders characterized by abnormal keratinization. Especially, punctate PPK (PPPK), one of the subtypes of hereditary PPK, is a rare punctate keratoderma characterized by tiny "raindrop" keratoses having a tendency to coalesce on the edge of soles, which are exposed to sustained pressure. If typical punctate lesions are confined to the palms and soles and the patient has a family history and late onset, it can be considered as PPPK type I (PPKP1), also called Buschke-Fisher-Brauer disease. Read More

    Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.
    J Eur Acad Dermatol Venereol 2018 May 24;32(5):704-719. Epub 2018 Mar 24.
    Genetic and Rare Diseases Research Area and Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy.
    The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into the following: (i) non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; (ii) non-syndromic PPKs with additional distinctive cutaneous and adnexal manifestations, here named complex PPKs; (iii) syndromic PPKs, in which PPK is associated with specific extracutaneous manifestations. Read More

    NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.
    Biochem Biophys Res Commun 2018 03 15;497(2):605-611. Epub 2018 Feb 15.
    School of Molecular Cell Biology and Biotechnology, 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, USA.
    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;Krt16 mice develop oral lesions early after birth and PC-like PPK lesions as young adults. 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 21;11(5-6):269-274. 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

    Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.
    J Invest Dermatol 2018 Apr 11;138(4):984-987. Epub 2017 Nov 11.
    Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. Electronic address:

    The non-neuronal and nonmuscular effects of botulinum toxin: an opportunity for a deadly molecule to treat disease in the skin and beyond.
    Br J Dermatol 2017 Oct 31. Epub 2017 Oct 31.
    Department of Dermatology, University of California, Irvine, Irvine, CA, U.S.A.
    There is growing evidence that botulinum neurotoxins (BoNTs) exhibit biological effects on various human cell types with a host of associated clinical implications. This review aims to provide an update on the non-neuronal and nonmuscular effects of botulinum toxin. We critically analysed recent reports on the structure and function of cellular signalling systems subserving biological effects of BoNTs. 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 the gene 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

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