Towards a Comprehensive Resource for Elucidating the Pathogenesis of Inherited Keratodermas
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Keratosis Circumscripta Revisited: a Case Report and Review of the Literature
CONTINUING MEDICAL EDUCATION Keratosis Circumscripta Revisited: A Case Report and Review of the Literature LCDR Eric P. Brumwell, MC, USN; LCDR Sean J. Murphy, MC, USN GOAL To understand keratosis circumscripta to better manage patients with the condition OBJECTIVES Upon completion of this activity, dermatologists and general practitioners should be able to: 1. Describe the clinical presentation of keratosis circumscripta. 2. Discuss the disorders often compared to keratosis circumscripta. 3. Identify treatment options for keratosis circumscripta. CME Test on page 378. This article has been peer reviewed and approved Einstein College of Medicine is accredited by by Michael Fisher, MD, Professor of Medicine, the ACCME to provide continuing medical edu- Albert Einstein College of Medicine. Review date: cation for physicians. April 2007. Albert Einstein College of Medicine designates This activity has been planned and imple- this educational activity for a maximum of 1 AMA mented in accordance with the Essential Areas PRA Category 1 CreditTM. Physicians should only and Policies of the Accreditation Council for claim credit commensurate with the extent of their Continuing Medical Education through the participation in the activity. joint sponsorship of Albert Einstein College of This activity has been planned and produced in Medicine and Quadrant HealthCom, Inc. Albert accordance with ACCME Essentials. Drs. Brumwell and Murphy report no conflict of interest. The authors report no discussion of off-label use. Dr. Fisher reports no conflict of interest. Keratosis circumscripta, also known as psoriasis been shown to improve, but not resolve, with kerat- circumscripta with palmoplantar keratosis, is a inolytic therapies. Some debate exists concern- rarely reported condition that manifests as well- ing the terminology used to identify this condition. -
Palmoplantar Keratoderma with Progressive Gingivitis and Recurrent Pyodermas
Palmoplantar Keratoderma With Progressive Gingivitis and Recurrent Pyodermas Tyler A. Moss, DO; Anne P. Spillane, MD; Sam F. Almquist, MD; Patrick E. McCleskey, MD; Oliver J. Wisco, DO Practice Points Papillon-Lefèvre syndrome (PLS) is an autosomal-recessive inherited transgredient palmoplantar kerato- derma (PPK) that is associated with gingivitis and recurrent pyodermas. The symptoms associated with PLS are thought to be due to cathepsin C gene, CTSC, mutations. CTSC is expressed in epithelial regions commonly affected by PLS and also plays a role in the activation of immune and inflammatory responses. Papillon-Lefèvre syndrome must be differentiated from other conditions causing PPK, such as Haim-Munk syndrome, Greither syndrome, mal de Meleda, Clouston syndrome, Vohwinkel syndrome, and Olmsted syndrome. Treatment of PLS includesCUTIS keratolytics such as urea and/or salicylic acid comb ined with oral retinoids. Active gingivitis may be treated with combined use of amoxicillin and metronidazole. Papillon-Lefèvre syndrome (PLS) is a rare inher- Case Report ited palmoplantar keratoderma (PPK) that is asso- A 30-year-old woman presented to the dermatology ciated with progressive gingivitis and recurrent clinic with erythematous hyperkeratotic plaques on pyodermas.Do We present a caseNot exhibiting classic the palmsCopy and soles. The plaques extended onto features of this autosomal-recessive condition the dorsal aspects of the fingers, toes, hands, and and review the current understanding of its patho- feet (Figures 1 and 2). The patient had psoriasiform physiology, diagnosis, and treatment. Addition- plaques on the extensor surfaces of the knees and ally, a review of pertinent transgredient PPKs is elbows (Figure 3) along with a history of slow- undertaken, with key and distinguishing features progressing gingivitis and periodontal disease that of each syndrome highlighted. -
Palmoplantar Keratoderma: Rare Case Report
Case Report Journal of Volume 12:4, 2021 Cytology & Histology ISSN: 2157-7099 Open Access Palmoplantar Keratoderma: Rare Case Report Dr. Ayushi Bansal1, Dr. Hemlata Munde2*, Dr. Munish Gupta3 and Dr. Santosh Munde4 1Senior Resident, Department of Pathology, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 2Professor and Head of Department of Pathology, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 3Assistant Professor, Department of medicine, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 4Professor and Head of Department of Orthopaedics, Kalpana Chawla Government Medical College, Karnal, Haryana, India. Abstract Palmoplantar keratodermas(PPK) are group of cornification disorders characterized by epidermal hyperkeratotic lesions involving the palms and soles. A 50years old healthy male, presented with history of multiple punctate hyperkeratotic papules since last 5 years. Keywords: Palmoplantar keratoderma • Punctate •Hyperkeratotic papules Abbreviations: PPK: Palmoplantar keratodermas • PUVA: Psoralen plus Ultraviolet A • PPPK: Punctate Palmoplantar keratodermas • USG: Ultrasound Sonography• VRDL: Venereal Disease Research Laboratory Test • ELISA: Enzyme-Linked Immunosorbent Assay Introduction Mucosal surfaces were not involved. Biopsy sample was received. On histopathological examination of biopsy revealed massive hyperkeratosis over sharply limited area with depression of malphigian layer below general Palmoplantar keratoderma (PPK), clinically and genetically comprises level of epidermis. There was increase in the thickness of granular layer. The of heterogenous group of disorders characterised by hyperkeratosis of dermis was free of inflammation. Compilation of clinical and laboratory data palms and soles [1]. It can be hereditary or acquired. Hereditary PPK can helped to conclude the diagnosis of Palmoplantar Keratoderma-Punctate be further divided into three major categories: diffuse, focal, and punctate type. -
Mal De Meleda in a Taiwanese
S.C. Chao, F.J. Lai, M.H. Yang, et al MAL DE MELEDA IN A TAIWANESE Sheau-Chiou Chao, Feng-Jei Lai, Mei-Hui Yang, and Julia Yu-Yun Lee Abstract: Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. The ARS gene encodes SLURP-1, a secreted epidermal neuromodulator involved in epidermal homeostasis and inhibition of tumor necrosis factor-α release. A 27-year- old Taiwanese woman who had a history of palmoplantar keratoderma since birth presented with severe erythrokeratoderma of the hands and feet in a glove-and-stocking distribution with conical tapering of the fingers, and involvement of the skin over the major joints and thighs. There were also widespread mottled hyperpigmented macules. Mutation analysis revealed a homozygous missense mutation (G86R) in exon 3 of ARS gene of this patient. Key words: ARS protein, human; Keratoderma, palmoplantar; Mutation, missense; Neuronal nicotinic acetylcholine receptor alpha7; Taiwan J Formos Med Assoc 2005;104:276-8 Keratoderma palmoplantare transgrediens or mal de that appeared soon after birth. The family reported no Meleda (MDM) is a rare autosomal recessive inflam- known consanguinity. She was the only affected member matory keratoderma, characterized by diffuse erythema in the family. On examination, the patient had marked and hyperkeratosis of the hands and feet that appears erythema and hyperkeratosis of the hands and feet soon after birth and progressively extends to the dorsal in a glove-and-stocking distribution, accompanied by aspect of the hands and feet and around the wrist malodor (Fig.). -
WES Gene Package Multiple Congenital Anomalie.Xlsx
Whole Exome Sequencing Gene package Multiple congenital anomalie, version 5, 1‐2‐2018 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired‐end sequenced on the Illumina platform (outsourced). The aim is to obtain 8.1 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA‐MEM algorithm (reference: http://bio‐bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x A4GALT [Blood group, P1Pk system, P(2) phenotype], 111400 607922 101 100 100 99 [Blood group, P1Pk system, p phenotype], 111400 NOR polyagglutination syndrome, 111400 AAAS Achalasia‐addisonianism‐alacrimia syndrome, 231550 605378 73 100 100 100 AAGAB Keratoderma, palmoplantar, -
The First Reported Case of a Variant of Mal De Maleda of the Gamborg
Our Dermatology Online Case Report Th e fi rrstst rreportedeported ccasease ooff a vvariantariant ooff MMalal ddee MMaledaaleda ooff tthehe GGamborg-Nielsenamborg-Nielsen ttypeype iinn aann EEgyptiangyptian ooriginrigin ppatientatient Khalid M. Al-Husain1, Ahmed A. Al-Thubaiti1, Farah M. Alzahrani2, Iqbal A. Bukhari3, Mohammad El-Shawarby4 1College of Medicine, Imam Abdulrahman Bin Faisal University (IAU), Dammam, Kingdom of Saudi Arabia, 2College of Medicine, Arabian Gulf University (AGU), Bahrain, 3Dermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU) and King Fahd Hospital of the University, Dammam, Kingdom of Saudi Arabia, 4Pathology Department, College of Medicine, Imam Abdulrahman Bin Faisal University (IAU) and King Fahd Hospital of the University, Dammam, Kingdom of Saudi Arabia Corresponding author: Prof. Iqbal A. Bukhari, E-mail: [email protected] ABSTRACT Mal de Meleda is a rare genodermatosis with an autosomal recessive inheritance. Mutations in the SLURP1 gene are the cause of this disease. Clinically, it is characterized by progressive palmoplantar hyperkeratosis exhibiting a transgradiens pattern extending to the dorsal aspects of the hands and feet in a glove and stocking pattern. It is also associated with hyperhidrosis, nail changes, subungual hyperkeratosis and perioral erythema. Here we report the first case of Gamborg-Nielsen variant of Mal de Meleda disorder in a patient of an Egyptian origin. Key words: Mal de Meleda; Keratoderma; Genodermatosis; SLURP1 gene INTRODUCTION in -
(12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub
US 2010O2.10567A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub. Date: Aug. 19, 2010 (54) USE OF ATUFTSINASATHERAPEUTIC Publication Classification AGENT (51) Int. Cl. A638/07 (2006.01) (76) Inventor: Dorian Bevec, Germering (DE) C07K 5/103 (2006.01) A6IP35/00 (2006.01) Correspondence Address: A6IPL/I6 (2006.01) WINSTEAD PC A6IP3L/20 (2006.01) i. 2O1 US (52) U.S. Cl. ........................................... 514/18: 530/330 9 (US) (57) ABSTRACT (21) Appl. No.: 12/677,311 The present invention is directed to the use of the peptide compound Thr-Lys-Pro-Arg-OH as a therapeutic agent for (22) PCT Filed: Sep. 9, 2008 the prophylaxis and/or treatment of cancer, autoimmune dis eases, fibrotic diseases, inflammatory diseases, neurodegen (86). PCT No.: PCT/EP2008/007470 erative diseases, infectious diseases, lung diseases, heart and vascular diseases and metabolic diseases. Moreover the S371 (c)(1), present invention relates to pharmaceutical compositions (2), (4) Date: Mar. 10, 2010 preferably inform of a lyophilisate or liquid buffersolution or artificial mother milk formulation or mother milk substitute (30) Foreign Application Priority Data containing the peptide Thr-Lys-Pro-Arg-OH optionally together with at least one pharmaceutically acceptable car Sep. 11, 2007 (EP) .................................. O7017754.8 rier, cryoprotectant, lyoprotectant, excipient and/or diluent. US 2010/0210567 A1 Aug. 19, 2010 USE OF ATUFTSNASATHERAPEUTIC ment of Hepatitis BVirus infection, diseases caused by Hepa AGENT titis B Virus infection, acute hepatitis, chronic hepatitis, full minant liver failure, liver cirrhosis, cancer associated with Hepatitis B Virus infection. 0001. The present invention is directed to the use of the Cancer, Tumors, Proliferative Diseases, Malignancies and peptide compound Thr-Lys-Pro-Arg-OH (Tuftsin) as a thera their Metastases peutic agent for the prophylaxis and/or treatment of cancer, 0008. -
Hereditary Hearing Impairment with Cutaneous Abnormalities
G C A T T A C G G C A T genes Review Hereditary Hearing Impairment with Cutaneous Abnormalities Tung-Lin Lee 1 , Pei-Hsuan Lin 2,3, Pei-Lung Chen 3,4,5,6 , Jin-Bon Hong 4,7,* and Chen-Chi Wu 2,3,5,8,* 1 Department of Medical Education, National Taiwan University Hospital, Taipei City 100, Taiwan; [email protected] 2 Department of Otolaryngology, National Taiwan University Hospital, Taipei 11556, Taiwan; [email protected] 3 Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei City 100, Taiwan; [email protected] 4 Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei City 100, Taiwan 5 Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan 6 Department of Internal Medicine, National Taiwan University Hospital, Taipei 10041, Taiwan 7 Department of Dermatology, National Taiwan University Hospital, Taipei City 100, Taiwan 8 Department of Medical Research, National Taiwan University Biomedical Park Hospital, Hsinchu City 300, Taiwan * Correspondence: [email protected] (J.-B.H.); [email protected] (C.-C.W.) Abstract: Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications. -
Palmoplantar Keratoderma of the Gamborg-Nielsen Type Is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal De Meleda
Acta Derm Venereol 2014; 94: 707–710 CLINICAL REPORT Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda Linshu ZHAO1, Anders VAHLQUIST2*, Marie VIRtanen2, Lena WENNERSTRAND3, Lisbet K. LIND3, Anita LUNDSTRÖM4 and Maritta HELLSTRÖM PIGG1 Departments of 1Immunology, Genetics and Pathology and 2Medical Sciences, Uppsala University, Uppsala, and 3Departments of Medical Biosciences, Medical and Clinical Genetics and 4Public Health and Clinical Medicine, Umeå University, Umeå, Sweden Palmoplantar keratoderma of the Gamborg-Nielsen also observed. Mal de Meleda (MDM; OMIM 248300) type (PPK-GN) is a rare autosomal recessive skin disor- or keratosis palmoplantaris transgradiens of Siemens der described in patients from Sweden. Mal de Meleda is an autosomal recessive skin disorder first described (MDM) is also a rare autosomal recessive inherited PPK in 1898 by Neumann (2) in patients from the island of first reported in 5 families from the island of Meleda. Mljet (Meleda) in Dalmatia, Croatia. MDM is clinically The 2 conditions phenotypically overlap and are charac- characterised by symmetric transgressive PPK, and so- terised by palmoplantar erythematous hyperkeratotic metimes associated with lichenoid or keratotic plaques plaques. The genetic background giving rise to PPK-GN over joints, redness in the palms and soles, brachydactyly, has hitherto been unknown, whereas MDM is known to cone-shaped fingers, pseudoainhum and nail abnorma- be caused by mutations in the gene encoding secreted lities with pachyonychia. The progressive lesions can Ly-6/uPAR-related protein 1, SLURP-1. In the present lead to reduced mobility of hands and feet because of study we scrutinised individuals affected by PPK-GN for contractions (2–8). -
Blueprint Genetics Epidermolysis Bullosa Panel
Epidermolysis Bullosa Panel Test code: DE0301 Is a 26 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of congenital epidermolysis bullosa. About Epidermolysis Bullosa Epidermolysis bullosa (EB) is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes, most commonly appearing at sites of friction and minor trauma such as the feet and hands. In some subtypes, blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction. There are 4 major types of EB based on different sites of blister formation within the skin structure: Epidermolysis bullosa simplex (EBS), Junctional epidermolysis bullosa (JEB), Dystrophic epidermolysis bullosa (DEB), and Kindler syndrome (KS). EBS is usually characterized by skin fragility and rarely mucosal epithelia that results in non-scarring blisters caused by mild or no trauma. The four most common subtypes of EBS are: 1) localized EBS (EBS-loc; also known as Weber-Cockayne type), 2) Dowling-Meara type EBS (EBS-DM), 3) other generalized EBS(EBS, gen-nonDM; also known as Koebner type) and 4) EBS-with mottled pigmentation (EBS-MP). Skin biopsy from fresh blister is considered mandatory for diagnostics of generalized forms of EBS. The prevalence of EBS is is estimated to be 1:30,000 - 50,000. EBS-loc is the most prevalent, EBS- DM and EBS-gen-nonDM are rare, and EBS-MP is even rarer. Penetrance is 100% for known KRT5 and KRT14 mutations. Location of the mutations within functional domains of KRT5and KRT14 has shown to predict EBS phenotype. -
Hereditary Palmoplantar Keratoderma "Clinical and Genetic Differential Diagnosis"
doi: 10.1111/1346-8138.13219 Journal of Dermatology 2016; 43: 264–274 REVIEW ARTICLE Hereditary palmoplantar keratoderma “clinical and genetic differential diagnosis” Tomo SAKIYAMA, Akiharu KUBO Department of Dermatology, Keio University School of Medicine, Tokyo, Japan ABSTRACT Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkerato- sis of the palm and the sole skin. Hereditary PPK are divided into four groups – diffuse, focal, striate and punctate PPK – according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diag- nose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade. Key words: diffuse, focal, punctate, striate, transgrediens. INTRODUCTION psoriasis vulgaris confined to the palmoplantar area (Fig. 1b) are comparatively common and are sometimes difficult to Palmoplantar keratoderma (PPK) is a heritable or acquired dis- distinguish from hereditary PPK. A skin biopsy is essential in order characterized by abnormal hyperkeratotic thickening of diagnosing these cases. Lack of a family history is not neces- the palm and sole skin. In a narrow sense, PPK implies heredi- sarily evidence of an acquired PPK, because autosomal reces- tary PPK, the phenotype of which usually appears at an early sive PPK can appear sporadically from parent carriers and age. -
Generalized Epidermolytic Ichthyosis with Palmoplantar Hyperkeratosis
Volume 27 Number 2| February 2021 Dermatology Online Journal || Photo Vignette 27(2):14 Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis Prasta Bayu Putra1 MD, Sunardi Radiono1 MD, Retno Danarti1 MD Affiliations: 1Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito Hospital, Yogyakarta, Indonesia Corresponding Author: Retno Danarti, Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito Hospital, Gedung Radiopoetro Lantai 3, Jalan Farmako Sekip Utara, Yogyakarta 55281, Indonesia, Tel/Fax: 62-274 560700, Email: [email protected] inherited in an autosomal dominant pattern, Abstract although spontaneous mutation represents about Epidermolytic ichthyosis (EI, OMIM 113800) is a rare half of all cases with no family history [1]. The autosomal dominant keratinization disorder that is prevalence of EI is reported to be about 1:100,000- caused by keratin 1 or keratin 10 gene mutation. It can 400,000 with mutations located in keratin (KRT) 1 or be classified clinically based on the presence of 10 genes. The defective KRT gene leads to skin palmoplantar hyperkeratosis involvement and fragility and blistering with erythrodermic clinical extent of skin involvement. The diagnosis is made by manifestations at birth. Hyperkeratosis and scaling clinical and histopathological examinations that can will form as the severity decreases with age [2]. be confirmed by genetic testing. We present a 2-year- old girl who presented with erythematous and thick Epidermolytic ichthyosis can be classified clinically scaling skin. Her condition began at birth as multiple based on the involvement of palmoplantar flaccid blisters that would easily break into erosions.