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    2736 results match your criteria Keratosis Palmaris et Plantaris

    1 OF 55

    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 2017 Oct 23. Epub 2017 Oct 23.
    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 SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11. Read More

    Methotrexate treatment in a case of juvenile pityriasis rubra pilaris.
    Pediatr Dermatol 2017 Oct 17. 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 2017 Sep 28. 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 Transient Receptor Potential Vanilloid 3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes.
    J Invest Dermatol 2017 Sep 27. Epub 2017 Sep 27.
    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 non-neuronal 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 Sep 12. 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

    Olmutinib-induced palmoplantar keratoderma.
    Br J Dermatol 2017 Sep 4. Epub 2017 Sep 4.
    Department of Dermatology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
    olmutinib is a third-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) for the treatment of non-small cell lung cancer (NSCLC), especially for those harboring T790M mutations, the most common reason for other EGFR-TKI resistance. We describe three patients who developed acquired palmoplantar keratoderma (PPK) after taking olmutinib, an adverse event which has not been reported in previous generations of EGFR-TKIs. This article is protected by copyright. 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, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. 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(CK14-S17F/+)) 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

    Olmsted Syndrome in a Family.
    Int J Trichology 2016 Oct-Dec;8(4):168-170
    Department of Dermatology, Central Hospital, Secunderabad, Telangana, India.
    Olmsted syndrome (OS) is a rare disorder characterized by the combination of periorificial, keratotic plaques, and bilateral palmoplantar keratoderma. Synonyms are mutilating palmoplantar keratoderma with periorificial keratotic plaques (ORPHA659, MIM #614594 and #300918). A number sign (#) is used with this entry because of evidence that mutilating palmoplantar keratoderma with periorificial keratotic plaques (OS) is caused by heterozygous mutation in the TRPV3 gene on chromosome 17p13. Read More

    A hypomorphic Egfr allele does not ameliorate the palmoplantar keratoderma caused by SLURP1 deficiency.
    Exp Dermatol 2017 Nov 27;26(11):1134-1136. Epub 2017 Jul 27.
    Division of Cardiology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
    Mutations in SLURP1, a secreted protein of keratinocytes, cause a palmoplantar keratoderma (PPK) known as mal de Meleda. Slurp1 deficiency in mice faithfully recapitulates the human disease, with increased keratinocyte proliferation and thickening of the epidermis on the volar surface of the paws. There has long been speculation that SLURP1 serves as a ligand for a receptor that regulates keratinocyte growth and differentiation. Read More

    Paraneoplastic palmoplantar keratoderma secondary to metastatic uterine adenocarcinoma.
    Cutis 2017 Mar;99(3):E32-E35
    Department of Dermatology, State University of New York Downstate, Brooklyn, USA.
    Palmoplantar keratoderma (PPK) is a dermatosis that presents as hyperkeratosis of the palms and soles. It may be acquired or heritable. Acquired PPK often occurs as a paraneoplastic response as well as a stigma of other dermatoses. Read More

    Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3.
    J Dermatol 2017 Sep 9;44(9):1059-1062. Epub 2017 Apr 9.
    Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
    Olmsted syndrome is a very rare congenital disorder, characterized by palmoplantar keratoderma and periorificial keratotic lesions. Recently, TRPV3 was reported to be a causative gene of Olmsted syndrome. We identified a heterozygous missense mutation of TRPV3, c. Read More

    The Ca(2+)-Permeable Cation Transient Receptor Potential TRPV3 Channel: An Emerging Pivotal Target for Itch and Skin Diseases.
    Mol Pharmacol 2017 Sep 4;92(3):193-200. Epub 2017 Apr 4.
    Department of Pharmacology, Qingdao University School of Pharmacy and Institute of Innovative Drugs, Qingdao University, Qingdao, Shandong Province, China
    Temperature-sensitive transient receptor potential (TRP) channels such as TRPA1 and TRPV1 have been identified as downstream ion channel targets in the transduction of itch. As a member of the temperature-sensitive TRP family, the Ca(2+)-permeable nonselective cation channel TRPV3 is expressed abundantly in skin keratinocytes. Recent identification of gain-of-function mutations of human TRPV3 from patients with Olmsted syndrome, which is characterized by severe itching and palmoplantar and periorificial keratoderma, unveils its crucial role in chronic itch and skin diseases. Read More

    Disseminated punctate keratoderma: a rare case report and review of the literature.
    Dermatol Online J 2017 Mar 15;23(3). Epub 2017 Mar 15.
    Boston University School of Medicine, Boston, Massachusetts.
    We report a rare case of a 53-year-old womanpresenting with diffuse, late-onset disseminatedhyperkeratotic papules. Biopsy showed massivehyperkeratosis overlying a crateriform epidermaldepression and hypergranulosis with mild epidermalhyperplasia. There was no parakeratosis, cornoidlamella, or dyskeratosis. Read More

    Gabapentin-induced aquagenic wrinkling of the palms.
    Dermatol Online J 2017 Jan 15;23(1). Epub 2017 Jan 15.
    Bezmialem Vakif University, Dermatology, Istanbul, Turkey.
    Aquagenic keratoderma (AK) or aquagenic wrinklingis a rare palmoplantar skin disease. It is sporadic orhereditary condition. It appears in childhood or youngadulthood and it is seen as multiple asymptomaticsmall shiny papules on the peripheral margin ofpalms and/or soles after submersion in water. Read More

    [Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].
    Hua Xi Kou Qiang Yi Xue Za Zhi 2016 Aug;34(4):346-349
    Dept. of Stomatology, Chengdu Military General Hospital, Chengdu 610017, China.
    Objective: This study aims to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the diagnosis and treatment of PLS.

    Methods: With their consent, peripheral blood samples were obtained from the proband and his family members (his parents and older sister) for genomic DNA extraction. The coding region and exon/intron boundaries of the CTSC gene were amplified and sequenced using poly-merase chain reaction and direct sequencing of DNA. Read More

    Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14.
    Br J Dermatol 2017 Mar 16. Epub 2017 Mar 16.
    St John's Institute of Dermatology, King's College London (Guy's Campus), London, U.K.
    Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which around one in 20 affected individuals show autosomal dominant inheritance. In such cases there may be gain-of-function mutations in CARD14, encoding caspase recruitment domain-containing protein 14 (CARD14), which activates the noncanonical nuclear factor (NF)-κB pathway, thereby promoting cutaneous inflammation. Here we report a mother and son with PRP due to a new missense mutation in CARD14 and describe the beneficial clinical effects of ustekinumab, a monoclonal antibody against interleukins 12 and 23, in both patients. Read More

    Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.
    Clin Exp Dermatol 2017 Apr 27;42(3):316-319. Epub 2017 Feb 27.
    St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
    Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB. Read More

    Prolonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases.
    Biochem Pharmacol 2017 May 11;131:52-67. Epub 2017 Feb 11.
    INSERM U-1100, "Centre d'Etude des Pathologies Respiratoires" and Université François Rabelais, Tours, France; Department of Pathology, University of Washington, Seattle, WA, USA. Electronic address:
    Cathepsin C (CatC) is a tetrameric cysteine dipeptidyl aminopeptidase that plays a key role in activation of pro-inflammatory serine protease zymogens by removal of a N-terminal pro-dipeptide sequence. Loss of function mutations in the CatC gene is associated with lack of immune cell serine protease activities and cause Papillon-Lefèvre syndrome (PLS). Also, only very low levels of elastase-like protease zymogens are detected by proteome analysis of neutrophils from PLS patients. Read More

    The histopathological differentiation between palmar psoriasis and hand eczema: A retrospective review of 96 cases.
    J Am Acad Dermatol 2017 Jul 9;77(1):130-135. Epub 2017 Feb 9.
    Department of Dermatology, Hallym University Sacred Heart Hospital, Anyang, Korea.
    Background: The histopathologic differences among palmar psoriasis (PP), hand eczema (HE), and hyperkeratotic hand dermatitis (HHD) have been poorly described.

    Objectives: We sought to distinguish among PP, HE, and HHD on a histopathologic basis.

    Methods: We retrospectively analyzed the histology of hematoxylin-eosin-stained sections obtained from 96 patients diagnosed with PP, HE, or HHD. Read More

    A case report of rare palmoplantar keratosis and nail dystrophy with imatinib.
    Ann Pharm Fr 2017 May 9;75(3):172-175. Epub 2017 Feb 9.
    Service of pharmacy, National institute of oncology, 10170 Rabat, Morocco.
    A 48-year-old woman developed palmoplantar hyperkeratosis during treatment with imatinib (400mg/day) for treatment of chronic myeloid leukemia. After 5months of treatment, she developed plantar lesions with yellow-brownish plaques and palmar desquamations. The skin biopsy has eliminated psoriasis. Read More

    Palmoplantar hyperkeratosis with a linear disposition along dermatoglyphics: a clue for an early diagnosis of tyrosinemia type II.
    G Ital Dermatol Venereol 2017 Apr;152(2):182-183
    Pediatric Dermatology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy -

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