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    2662 results match your criteria Keratosis Palmaris et Plantaris

    1 OF 54

    A case of mosaicism in ectodermal dysplasia - skin fragility syndrome.
    Br J Dermatol 2017 Feb 9. Epub 2017 Feb 9.
    Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.
    Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1), which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case of a 2-year-old girl with unilateral superficial erosions, plantar keratoderma and nail dystrophy, all showing a Blaschko-linear arrangement. Read More

    Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats.
    J Dermatol Sci 2017 Mar 15;85(3):186-196. Epub 2016 Dec 15.
    Laboratory of Biochemistry, Graduate School of Life Science, Hokkaido University, Sapporo 060-0812, Japan; Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo 060-0812, Japan. Electronic address:
    Background: Olmsted syndrome (OS) is a congenital dermatosis characterized by palmoplantar keratoderma and periorificial keratotic plaque. TRPV3 (transient receptor potential vanilloid subtype 3) encodes a thermosensitive Ca(2+) channel and is the causative gene of OS. However, the molecular mechanism that causes the pathological development of OS is unclear. Read More

    Autosomal recessive Keratoderma-Ichthyosis-Deafness (ARKID) syndrome is caused by VPS33B mutations affecting Rab protein interaction and collagen modification.
    J Invest Dermatol 2016 Dec 22. Epub 2016 Dec 22.
    MRC Laboratory for Molecular Cell Biology, University College London, London WC1E 6BT, UK; Institute of Child Health, University College London, London WC1N 1EH, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address:
    Here we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Bi-allelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein which interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen modifying enzyme LH3. Two patients were homozygous for the missense variant p. Read More

    Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin.
    Pediatr Dermatol 2016 Dec 23. Epub 2016 Dec 23.
    Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut.
    Costello syndrome (CS) is a multisystem congenital disorder characterized by coarse facial features, cardiac defects, intellectual disability, and predisposition to malignancies. Dermatologic findings can include cutaneous papillomas, skin redundancy, acanthosis nigricans, and keratosis pilaris. Palmoplantar keratoderma (PPK) is present in approximately 76% of patients with CS, with disabling functional consequences in severe cases. Read More

    Desmosomes and corneodesmosomes and their relevance to genetic skin diseases.
    G Ital Dermatol Venereol 2017 Apr 16;152(2):148-157. Epub 2016 Dec 16.
    Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
    Desmosomes are critical intercellular junctions between keratinocytes in the living cell layers of the epidermis. When the cells are differentiated and become cornified cells, desmosomes are transformed into corneodesmosomes. Distribution patterns of corneodesmosomes change with cell development. Read More

    Acral manifestations of paraneoplastic and collagen vascular diseases.
    Clin Dermatol 2017 Jan - Feb;35(1):50-54. Epub 2016 Sep 10.
    Department of Dermatology, Akdeniz University, Faculty of Medicine, Antalya, Turkey. Electronic address:
    The skin often signals a number of systemic disease, making skin findings of paramount significance. Paraneoplastic diseases and collagen vascular diseases are vitally important illnesses. Paraneoplastic diseases and collagen vascular diseases may also occur with many different acral skin findings. Read More

    [Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].
    Ann Dermatol Venereol 2017 Jan 5;144(1):6-35. Epub 2016 Dec 5.
    Service de dermatologie, centre de référence des épidermolyses bulleuses héréditaires, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, CS 23079, 06202 Nice cedex 3, France. Electronic address:
    Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. Read More

    Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
    Cancer Genet 2016 Nov 29;209(11):515-524. Epub 2016 Oct 29.
    People's Hospital of Xinjiang Uygur Autonomous Region, China.
    Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology. Read More

    Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes: Implications for genetic screening.
    Br J Dermatol 2016 Aug 18. Epub 2016 Aug 18.
    Department of Dermatology, University Hospital Crosshouse, Kilmarnock, UK.
    Introduction: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis: striate, focal, diffuse, and punctate. Read More

    [Late onset dermatophytic disease].
    Pan Afr Med J 2016 7;24:194. Epub 2016 Jul 7.
    Service de Dermatologie CHU Ibn Rochd de Casablanca, Maroc.
    Dermatophytic disease, described for the first time in 1959 by Hadida and Schousboe, is a chronic dermatophyte infection of the skin and viscera. It is a rare disease occurring mainly in Maghreb. Immunological studies have highlighted a deficit of cellular immunity with autosomal recessive transmission responsible for tolerance to dermatophyte. Read More

    [Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].
    Pan Afr Med J 2016 1;24:183. Epub 2016 Jul 1.
    Service de Néphrologie, CHU Mohamed VI, Faculté de Médecine, Université Mohamed Premier, Oujda, Maroc.
    Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. Read More

    Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in both DSG1 and SERPINB7.
    Acta Derm Venereol 2016 Oct 27. Epub 2016 Oct 27.
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
    is missing (Short communication). Read More

    Nagashima-type palmoplantar keratosis in a Chinese Han population.
    Mol Med Rep 2016 Nov 21;14(5):4049-4054. Epub 2016 Sep 21.
    Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
    Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Read More

    Peripheral neuropathic changes in pachyonychia congenita.
    Pain 2016 Dec;157(12):2843-2853
    aDepartment of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA bPachyonychia Congenita Project, Salt Lake City, UT, USA cDepartment of Dermatology, University of Utah Health Sciences Center, Salt Lake City, UT, USA dDepartment of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, MD, USA eBlizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom fDepartments of Neurosurgery, Biological Chemistry, Neuroscience, and the Neurosurgery Pain Research Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corresponding locations in 10 control subjects. Tissue was processed to visualize intraepidermal nerve fibers (IENF) (PGP9. Read More

    Palmoplantar Keratoderma and Charcot-Marie-Tooth: combination of two independent genetic diseases? Identification of two point mutations in CMT2 and PPK genes by whole exome sequencing.
    Br J Dermatol 2016 Sep 17. Epub 2016 Sep 17.
    Laboratory of Experimental Neurobiology, National Neurological Institute C. Mondino, Pavia, Italy.
    Importance: In the eighties a clinical and familiar condition in which two different diseases Charcot-Marie-Tooth Disease type 2 (CMT2), and Palmoplantar Keratoderma (PPK) seemed to define an interesting complex phenotype (OMIM 148360) has been described. The regular association of this phenotype and the autosomal dominant trait has suggested that this clinical condition was expression of the same mutant gene. Exome analysis has been performed in an Italian family which members were affected by CMT2, PPK and CMT/PPK. Read More

    Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy.
    Cardiovasc Diagn Ther 2016 Oct;6(5):462-465
    Department of Dermatology & Venereology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh.
    Naxos disease is a rare autosomal recessive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with woolly hair and palmoplantar keratoderma. The cardiomyopathy presents by adolescence with syncope, ventricular tachycardia (VT) of left bundle branch block (LBBB) morphology, and/or ventricular fibrillation. The diagnosis and management of ARVC are at present in evolution; the recently published modified Task Force Criteria for diagnosis and International Task Force consensus statement for treatment of ARVC will hopefully bring about uniformity in recognition and management of Naxos disease as well. Read More

    Christ-Siemens-Touraine syndrome with palmoplantar keratoderma: A rare association.
    Indian Dermatol Online J 2016 Sep-Oct;7(5):393-395
    Department of Dermatology and Venereology, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
    Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association. Read More

    A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.
    J Cosmet Dermatol 2016 Oct 10. Epub 2016 Oct 10.
    Department of Dermatology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.
    Background: Mutations of keratin 9 (KRT9) gene is a hot research area of epidermolytic palmoplantar keratoderma (EPPK).

    Aims: To identify the genes caused the EPPK of a Chinese family.

    Patients/methods: Three cases of lesions were collected for pathological examination. Read More

    Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).
    J Eur Acad Dermatol Venereol 2016 Sep 15. Epub 2016 Sep 15.
    Department of Dermatology, Medical Center - University Freiburg, Freiburg, Germany.
    SAM syndrome (OMIM 615508), comprising severe dermatitis, multiple allergies and metabolic wasting, was first described by Samuelov et al in 2013(1) . Cutaneous findings consisted of congenital erythroderma, superficial skin erosions, fine scales and palmoplantar keratoderma and were accompanied by extracutaneous findings including perinatal hyponatremia, food allergies, elevated IgE levels, recurrent infections, metabolic wasting, malabsorbtion, esophageal reflux and eosinophilic esophagitis, cardiac defects, microcephaly and development delay (2,3) . In the initial description, SAM syndrome was caused by biallelic loss-of-function mutations of the desmoglein 1 (DSG1) gene(1) and resulted in a severe lethal prognosis in 3 out of 6 cases. Read More

    Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
    Dermatol Online J 2016 Apr 18;22(4). Epub 2016 Apr 18.
    Scott & White Memorial Hospital and Clinic, Texas A&M University College of Medicine.
    Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Read More

    Pachyonychia congenita with late onset (PC tarda).
    Indian Dermatol Online J 2016 Jul-Aug;7(4):278-80
    Department of Dermatology, Maharajah's Institute of Medical Sciences, Nellimarla, Andhra Pradesh, India.
    Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. Read More

    SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
    Am J Med Genet A 2016 Dec 2;170(12):3165-3171. Epub 2016 Aug 2.
    Human Genetics Program, Sanford-Burnham Prebys Medical Discovery Institute, La Jolla, California.
    Increasing numbers of congenital disorders of glycosylation (CDG) have been reported recently resulting in an expansion of the phenotypes associated with this group of disorders. SRD5A3 codes for polyprenol reductase which converts polyprenol to dolichol. This is a major pathway for dolichol biosynthesis for N-glycosylation, O-mannosylation, C-mannosylation, and GPI anchor synthesis. Read More

    Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas.
    Acta Dermatovenerol Croat 2016 Jun;24(2):116-23
    Rafal Czajkowski, MD, PhD, Nicolaus Copernicus University in Toruń, Faculty of Medicine, Chair of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Bydgoszcz, Poland;
    Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C). Read More

    Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.
    Rev Invest Clin 2016 May-Jun;68(3):143-6
    Department of Dermatology, Yale University School of Medicine, New Haven, USA.
    Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. Read More

    Recent advances in understanding ichthyosis pathogenesis.
    F1000Res 2016 24;5. Epub 2016 Jun 24.
    Department of Dermatology, Yale University School of Medicine, New Haven, CT, 06511, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT, 06511, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT, 06511, USA.
    The ichthyoses, also known as disorders of keratinization (DOK), encompass a heterogeneous group of skin diseases linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the characteristic clinical manifestation of localized and/or generalized scaling. Additional cutaneous findings frequently seen in ichthyoses include generalized xerosis, erythroderma, palmoplantar keratoderma, hypohydrosis, and recurrent infections. In 2009, the Ichthyosis Consensus Conference established a classification consensus for DOK based on pathophysiology, clinical manifestations, and mode of inheritance. Read More

    Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.
    J Eur Acad Dermatol Venereol 2016 Dec 12;30(12):2122-2130. Epub 2016 Jul 12.
    Department of Dermatology, CHU La Rabta Tunis, Tunis, Tunisia.
    Background: Punctate palmoplantar keratoderma type I (PPPK-BFB), also called Buschke-Fischer-Brauer disease (MIM 148600) is a rare autosomal dominant disorder of keratinization, characterized by multiple hyperkeratotic lesions on the palms and soles. Recently, PPPK-BFB has been shown to be associated with mutations in the AAGAB gene in several families of European, African, Canadian and Asian origins.

    Objective: To characterize the clinical and genetic features of PPPK-BFB in a broad group of Tunisian patients. Read More

    Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.
    Clin Exp Dermatol 2016 Aug 24;41(6):632-5. Epub 2016 Jun 24.
    Department of Medical Genetics, Galliera Hospital, Genoa, Italy.
    Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case. Read More

    Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
    Curr Res Transl Med 2016 Apr-Jun;64(2):61-4. Epub 2016 Mar 4.
    Institut Pasteur, Laboratoire de Génétique Moléculaire Humaine, 1, place Louis Pasteur, 20360 Casablanca, Morocco. Electronic address:
    Mutations in the GJB2 gene encoding connexin 26 are the main cause of hereditary hearing impairment. These mutations generate mainly autosomal recessive and rarely autosomal dominant deafness. Dominant mutations in GJB2 can be responsible for isolated deafness as well as syndromic hearing loss associated with various skin abnormalities. Read More

    Olmsted Syndrome: Rare Occurrence in Four Siblings.
    Indian J Dermatol 2016 May-Jun;61(3):347
    Department of Dermatology, Venereology and Leprosy, Rajendra Institute of Medical Sciences, Ranchi, Jharkhand, India.
    Olmsted syndrome is a very rare and severe cicatrizing keratoderma associated with periorificial lesion. Most cases are sporadic but familial occurrence has been also seen. Till now around 73 cases have been reported and none of the reported cases have 4 siblings affected from this disease. Read More

    The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report.
    BMC Dermatol 2016 Jun 3;16(1). Epub 2016 Jun 3.
    Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
    Background: An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protein aquaporin 5 leading to defective epidermal-water-barrier function in the epidermis of the palms and soles.

    Case Presentation: We report the first Danish family diagnosed with diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type in which fourteen individuals are potentially affected. The proband, a 36-year-old male had since childhood been affected by pronounced hyperhidrosis of the palms and soles along with palmoplantar keratoderma. Read More

    Circumscribed Hypokeratosis: Report on a Series of 7 Mexican Cases and Review of the Literature.
    Am J Dermatopathol 2016 Jun;38(6):399-408
    *Dermatopathologist, Centro Dermatologico Pascua, México City, México; †Dermatologist, Centro Dermatologico Pascua, México City, México; ‡Dermatologist, Private Practice, Guadalajara, México; §Resident in Dermatopathology, Centro Dermatologico Pascua, México City, México; ¶Dermatologist, Private Practice, México City, México; and ‖Dermatologist and Director, Centro Dermatologico Pascua, México City, México.
    Circumscribed palmoplantar hypokeratosis is a recently described condition with well-defined clinical and histopathologic features. Eight additional cases from Mexican patients-six cases have been published in the literature, we report 7. In 6 cases, a hyperkeratotic edge was demonstrated histologically. Read More

    Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.
    J Clin Invest 2016 Jun 16;126(6):2356-66. Epub 2016 May 16.
    Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. Here, we have shown that PPK onset is preceded by oxidative stress in footpad skin of Krt16-/- mice and correlates with an inability of keratinocytes to sustain nuclear factor erythroid-derived 2 related factor 2-dependent (NRF2-dependent) synthesis of the cellular antioxidant glutathione (GSH). Read More

    Erythroderma. A clinical and etiological study of 103 patients.
    J Dermatol Case Rep 2016 Mar 31;10(1):1-9. Epub 2016 Mar 31.
    Department of Dermatology and Venereology, Centro Hospitalar São João EPE, Porto, Portugal;
    Background: Erythroderma is an uncommon and severe dermatological manifestation of a variety of diseases. It is commonly challenging to find the underlying cause.

    Objective: The aim of this study was to analyze the causes of the disease in patients with erythroderma. Read More

    Palmoplantar Keratoderma as a Variant of Lichen Planus.
    Skinmed 2016 1;14(1):56-60. Epub 2016 Feb 1.
    Department of Dermatology and STD, and the Department of Pathology, University College of Medical Sciences and Associated Guru Teg Bahadur Hospital, Shahdra, Delhi, India.
    A 52-year-old air conditioner mechanic presented with progressively itchy grayish white eruptions affecting the skin and mucous membranes, including his palms and soles for the past 2 months. The inner aspects of the palms and weight-bearing areas of the soles were the initial sites of presentation, resulting in a diffuse thickness of the palms and soles, which inhibited his everyday activity. The eruptions were asymptomatic but conspicuous. Read More

    Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.
    Int J Dermatol 2016 Aug 7;55(8):898-902. Epub 2016 Apr 7.
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.
    Papillon-Lefèvre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early-onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. Read More

    [Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Apr;33(2):150-4
    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, China.
    Objective: To analyze the clinical phenotype of a Chinese pedigree affected with Papillon-Lefevre syndrome(PLS) and detect mutation of CTSC gene.

    Methods: Clinical phenotypes were noted, and oral examination for the proband was carried out for the clinical diagnosis of PLS. PCR and Sanger sequencing were used to identify potential mutation of the CTSC gene. Read More

    A Case of Eczematoid Graft-Versus-Host Disease.
    Pediatr Dermatol 2016 May 4;33(3):e195-e197. Epub 2016 Apr 4.
    Dermatology Service, KK Women's and Children's Hospital, Singapore.
    A 13-year-old boy underwent allogeneic hematopoietic stem cell transplantation (HSCT) for underlying acute lymphoblastic leukemia and achieved neutrophil engraftment 28 days after HSCT. He developed ichthyosis 6 weeks after HSCT and then keratotic follicular papules, palmoplantar keratoderma, and a seborrheic dermatitis-like eruption 18 weeks after HSCT. From skin biopsies he was diagnosed with eczematoid graft-versus host disease (GVHD), which showed spongiosis with scattered necrotic keratinocytes. Read More

    Arrhythmogenic cardiomyopathy.
    Orphanet J Rare Dis 2016 Apr 2;11:33. Epub 2016 Apr 2.
    Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy.
    Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, AC is listed among rare diseases. A familial background consistent with an autosomal-dominant trait of inheritance is present in most of AC patients; recessive variants have also been reported, either or not associated with palmoplantar keratoderma and woolly hair. Read More

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