How to Deal with Skin Biopsy in an Infant with Blisters?
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Idiopathic Spiny Keratoderma: a Report of Two Cases and Literature Review
Idiopathic Spiny Keratoderma: A Report of Two Cases and Literature Review Jessica Schweitzer, DO,* Matthew Koehler, DO,** David Horowitz, DO*** *Intern, Largo Medical Center, Largo, FL **Dermatology Resident, Third Year, College Medical Center/Western University, Long Beach, CA ***Dermatology Residency Program Director, College Medical Center/Western University, Long Beach, CA Abstract Spiny keratoderma is a rare and likely underreported condition that presents with punctate hyperkeratotic growths localized to the palms and soles. We present two cases of clinically diagnosed spiny keratoderma. Although the lesions were asymptomatic, patients are at risk of an underlying internal malignancy with this condition, so diagnosis is crucial. Neither men were seeking treatment for the lesions when they were discovered, suggesting that this condition may be much more common than reported. Patients with histories of manual labor, increased UV exposure, and non-melanoma skin cancer (NMSC) may also be at higher risk for developing spiny keratoderma.1 The epidemiology, histopathologic features, differential diagnosis, and current treatments for spiny keratoderma are reviewed. Introduction Case 2 enthusiast for his entire life, spending significant Spiny keratoderma is a rare palmoplantar A 67-year-old Caucasian male presented with a time using his hands to maintain and fire his keratoderma that presents with keratotic, pinpoint one-year history of insidiously growing, pinpoint weapons and many hours outside without sun papules on the palms and soles. There are both hyperkeratotic papules projecting from his palms protection. The patient was referred back to his hereditary and acquired forms. When found, bilaterally (Figures 4-5). He presented to the clinic primary care physician for internal evaluation. -
Living with Mast Cell Activation Syndrome
Anne Maitland, MD, PhD Living with Medical Director, Comprehensive Allergy Mast Cell & Asthma Care Activation Asst Professor, Dept of Medicine – Clinical Immunology Syndrome Icahn School of Medicine at Mt Sinai, New York Got MCAS? Mast Cell mediated disorders are common u 1 out of 2 of us are coping with some chronic immune mediated disorder. o ‘allergies’(rhinitis), sinus infections, hives (urticaria),food allergy/intolerance, skin swelling (angioedema), Anaphylaxis Signs and Symptoms eczema (atopic dermatitis and contact dermatitis), asthma issues, and the prototype of immediate hypersensitivity syndromes, anaphylaxis Why the rise in hypersensitivity disorders? Our genes in this environment! The human race has come to dominate its environment so completely that any analysis of the increase or appearance of a disease has to take changes in our lifestyle into account. In the case of allergic disease [hypersensitivity disorders] changes in our environment, diet, water quality, and personal behavior over the last 150 years have played a dominant role in the specificity of these diseases, as well as in prevalence and severity… it is clear that the consequences of hygiene, indoor entertainment, and changes in diet or physical activity have never been predicted. Thomas A. E. Platts-Mills, MD, PhD, FRS, The allergy epidemics: 1870-2010; J Allergy Clin Immunol 2015;136:3-13. Why? Trauma Stress Infection Connective Tissue Chemical Disorder exposure PIDD -manufactured Autoimmune Dz. -mold, Mastocytosis mycotoxins Hypertryptasemia (naturally Atopic Disorders occuring) Mast cell activation syndrome is easily treated, if it's But most patients with recognized MCAD suffer for Patients with mast cell activation syndrome (MCAS) frequently go for years without an accurate diagnosis… Harding, Reuters Health-New York, 2011 years… It is very common for one hypersensitivity condition to progress/morph into another, be provoked by more triggers. -
Keratosis Follicularis Spinulosa Decalvans in a Female Child- a Rare Presentation Chowdhury J1, Ghoshal L2, Bannerjee S3
Bangladesh Journal of Medical Science Vol. 16 No. 04 October’17 Case report: Keratosis Follicularis Spinulosa Decalvans in a female child- a rare presentation Chowdhury J1, Ghoshal L2, Bannerjee S3 Abstract: Congenital alopecia universalis is a very rare presentation. A 6 year old girl came to us with total alopecia and multiple horny keratosis pilaris like skin lesions all over the body. The alopecia was mostly non-scarring with a few patches of scarring over the scalp. Histology from scalp revealed follicular plugging with perifollicular infiltrate of lymphocytes and plasma cells. The case was diagnosed as Keratosis follicularis spinulosa decalvans. This is very rare and even rarer in females. Keywords: keratosis pilaris; scarring alopecia; non-scarring alopecia Bangladesh Journal of Medical Science Vol. 16 No. 04 October’17. Page : 591-593 Introduction: Keratosis follicularis spinulosa Except a few brittle hairs on the crown area hair was decalvans is a rare genodermatosis that affects absent all over the scalp, eyelids and body. There predominantly males. It appears in infancy or were a few small patches of non-scarring alopecia childhood, and is characterized by diffuse follicular over the scalp [Figure 3]. keratotic papules associated with progressive Palms, soles, nail and mucosa were unaffected. cicatricial alopecia of the scalp, eyebrows and Family history was unremarkable with no history eyelashes. Family history is often positive. We report of consanguinity. Her twin sister was unaffected. a case of KFSD in a female child. There was no history of photophobia, no evidence Case-report: A 6 year old girl presented with of physical or mental retardation. -
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. -
Revertant Mosaicism in a Human Skin Fragility Disorder Results from Slipped Mispairing and Mitotic Recombination
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination Dimitra Kiritsi, … , Leena Bruckner-Tuderman, Cristina Has J Clin Invest. 2012;122(5):1742-1746. https://doi.org/10.1172/JCI61976. Brief Report Dermatology Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that undergo self-regeneration, including the skin. Genetic reversion may occur through different mechanisms, and in a single individual, the mutation can be repaired in various ways. Here we describe a disseminated pattern of revertant mosaicism observed in 6 patients with Kindler syndrome (KS), a genodermatosis caused by loss of kindlin-1 (encoded by FERMT1) and clinically characterized by patchy skin pigmentation and atrophy. All patients presented duplication mutations (c.456dupA and c.676dupC) in FERMT1, and slipped mispairing in direct nucleotide repeats was identified as the reversion mechanism in all investigated revertant skin spots. The sequence around the mutations demonstrated high propensity to mutations, favoring both microinsertions and microdeletions. Additionally, in some revertant patches, mitotic recombination generated areas with homozygous normal keratinocytes. Restoration of kindlin-1 expression led to clinically and structurally normal skin. Since loss of kindlin-1 severely impairs keratinocyte proliferation, we predict that revertant cells have a selective advantage that allows their clonal expansion and, consequently, the improvement of the skin condition. Find the latest version: https://jci.me/61976/pdf Brief report Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination Dimitra Kiritsi,1 Yinghong He,1 Anna M.G. Pasmooij,2 Meltem Onder,3 Rudolf Happle,1 Marcel F. -
Incontinentia Pigmenti
Incontinentia Pigmenti Authors: Prof Nikolaos G. Stavrianeas1,2, Dr Michael E. Kakepis Creation date: April 2004 1Member of The European Editorial Committee of Orphanet Encyclopedia 2Department of Dermatology and Venereology, A. Sygros Hospital, National and Kapodistrian University of Athens, Athens, Greece. [email protected] Abstract Keywords Definition Epidemiology Etiology Clinical features Course and prognosis Pathology Differential diagnosis Antenatal diagnosis Treatment References Abstract Incontinentia pigmenti (IP) is an X-linked dominant single-gene disorder of skin pigmentation with neurologic, ophthalmologic, and dental involvement. IP is characterized by abnormalities of the tissues and organs derived from the ectoderm and mesoderm. The locus for IP is genetically linked to the factor VIII gene on chromosome band Xq28. Mutations in NEMO/IKK-y, which encodes a critical component of the nuclear factor-kB (NF-kB) signaling pathway, are responsible for IP. IP is a rare disease (about 700 cases reported) with a worldwide distribution, more common among white patients. Characteristic skin lesions are usually present at birth in approximately 90% of patients, or they develop in early infancy. The skin changes evolve in 4 stages in a fixed chronological order. Skin, hair, nails, dental abnormalities, seizures, developmental delay, mental retardation, ataxia, spastic abnormalities, microcephaly, cerebral atrophy, hypoplasia of the corpus callosum, periventricular cerebral edema may occur in more than 50% of reported cases. Ocular defects, atrophic patchy alopecia, dwarfism, clubfoot, spina bifida, hemiatrophy, and congenital hip dislocation, are reported. Treatment of cutaneous lesions is usually not required. Standard wound care should be provided in case of inflammation. Regular dental care is necessary. Pediatric ophthalmologist or retinal specialist consultations are essential. -
Graft Versus Host Disease and How to Report It
Graft versus Host Disease and how to report it Daniel Weisdorf MD University of Minnesota Transplant Events Day-8 0 1mo 3mo 6mo Conditioning HSCT Engraftment Mucositis Organ toxicity (VOD) Acute GVHD Chronic GVHD Infections Bacterial ----CMV---- Varicella----- --Fungus--------- Transplant Events Day-8 0 1mo 3mo 6mo Conditioning HSCT Engraftment Mucositis Organ toxicity (VOD) Acute GVHD Chronic GVHD Infections Bacterial ----CMV---- Varicella----- --Fungus--------- 1 Acute GVHD Chronic GVHD Skin: Lichen planus, Hyper/ hypo pigmentation, Dermatitis ichthyosis, onychodystrophy, morphea, + scleroderma, hair changes. Hepatitis Oral: sicca, atrophy, lichenoid, + Hyperkeratosis GI: wasting, dysphagia, Enteritis odynophagia, strictures Eye: keratoconjunctivitis sicca Lungs: Bronchiolitis obliterans Others: myofascial, genital Acute GVHD Chronic GVHD Dermatitis Rash + Hepatitis High bilirubin + Enteritis Nausea/vomiting/ diarrhea Acute GVHD Chronic GVHD Skin: Lichen planus, Scaly abnormal pigmentation, Dry skin, onychodystrophy, abnormal nails scleroderma, thick skin hair changes. Oral: sicca, atrophy, lichenoid, Dry mouth GI: wasting, dysphagia, Weight loss odynophagia, trouble swallowing Eye: keratoconjunctivitis sicca Dry eyes Lungs: Bronchiolitis obliterans Obstruction Others: myofascial, muscle stiffness Genital vaginal narrowing 2 Graft vs. Leukemia Effect • Less leukemia relapse follows more GVHD • Acute and particularly Chronic GVHD limit relapse Risk Factors for GVHD Acute GVHD Chronic GVHD Increased risk Increased risk HLA mismatch Older -
Erythrokeratodermia Variabilis Et Progressiva Allelic to Oculo-Dento
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector COMMENTARY See related article on pg 1540 translocated into the plasma membrane. Once expressed on the cell surface, the hemichannel docks with a connexon of an adjacent cell to form a channel that Erythrokeratodermia Variabilis et is termed gap junction. Connexons can form either homotypic (docking of two Progressiva Allelic to Oculo-Dento- identical connexons), heterotypic (docking of two dissimilar homomeric Digital Dysplasia connexons), or heteromeric (docking of two heteromeric connexons) channels Sabine Duchatelet1,2 and Alain Hovnanian1,2,3 (Mese et al., 2007). These diverse Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with combinations of connexins create clinical and genetic heterogeneity, most often transmitted in an autosomal different types of channels, each having dominant manner, caused by mutations in GJB3 and GJB4 genes encoding unique properties (ionic conductance, connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report permeability, sensitivity to voltage, or for the first time de novo dominant mutations in GJA1 encoding the ubiquitous pH). Of note, several connexins may also Cx43 in patients with EKVP. These results expand the genetic heterogeneity of form functional nonjunctional hemi- EKVP and the human disease phenotypes associated with GJA1 mutations. They channels, although their physiological disclose that EKVP is allelic to oculo-dento-digital dysplasia, a rare syndrome relevance remains uncertain (Pfenniger previously known to be caused by dominant GJA1 mutations. et al., 2010). Mutations in 11 connexin genes cause a variety of genetic dis- Journal of Investigative Dermatology (2015) 135, 1475–1478. -
COVID-19 and RARE SKIN DISEASES
COVID-19 and RARE SKIN DISEASES Newsletter n°4, 8th June 2021 Dear all, We hope that this letter finds you well! Thank you to those who have included patients and collected the data! We would like to remind you to complete the online eCRF via the link you have received. If you any have any issues don’t hesitate to contact us. Please note that, since the pandemic is still continuing, the study has been expanded for one year. The monitoring is ongoing and the queries will be sent regularly. If needed, the sites will be contacted to discuss and validate the answers, and check if the study is proceeding well. 64 patients are included in the study: 5 in Germany, 6 in Czech Republic, 8 in Italy, 11 in Lithuania and 34 in France. The diseases concerned are the following: Bullous pemphigoid (9/64), Recessive dystrophic Epidermolysis bullosa (9/64), Dominant dystrophic Epidermolysis bullosa (8/64), Epidermolysis bullosa (7/64), Hidradenitis suppurativa (7/64), X-linked hypohidrotic ectodermal dysplasia (4/64), Lamellar ichtyosis (2/64) and Incontinentia pigmenti (2/64). The other diseases are presented each by 1 patient: Pemphigus vulgaris, Pemphigus foliaceous, Mucous membrane pemphigoid, IgA Linear Dermatosis, Dermatitis herpetiformis, Kindler Epidermolysis bullosa, Kerathinopathic ichthyosis, Darier disease, Linear morphea, Cloves syndrome, Microcystic lymphatic malformation, Hemihypertrophy (Overgrowth syndrome), Adamantiades - Behçet's disease, Hailey Hailey disease, Pityriasis rubra pilaris and Neurofibromatosis type 1 (Figure 1 below). 10 Figure 1: Type of Rare skin diseases 5 0 A large majority of patients visited a hospital physician (42%: 27/64), 28% visited a General practitioner (18/64) and 23% consulted a physician remotely (15/64). -
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. -
RD-Action Matchmaker – Summary of Disease Expertise Recorded Under
Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically Rare Bone Achondroplasia/Hypochondroplasia Achondroplasia Amelia skeletal dysplasia’s including Achondroplasia/Growth hormone cleidocranial dysostosis, arthrogryposis deficiency/MPS/Turner Brachydactyly chondrodysplasia punctate Fibrous dysplasia of bone Collagenopathy and oncologic disease such as Fibrodysplasia ossificans progressive Li-Fraumeni syndrome Osteogenesis imperfecta Congenital hand and fore-foot conditions Sterno Costo Clavicular Hyperostosis Disorders of Sex Development Duchenne Muscular Dystrophy Ehlers –Danlos syndrome Fibrodysplasia Ossificans Progressiva Growth disorders Hypoparathyroidism Hypophosphatemic rickets & Nutritional Rickets Hypophosphatasia Jeune’s syndrome Limb reduction defects Madelung disease Metabolic Osteoporosis Multiple Hereditary Exostoses Osteogenesis imperfecta Osteoporosis Paediatric Osteoporosis Paget’s disease Phocomelia Pseudohypoparathyroidism Radial dysplasia Skeletal dysplasia Thanatophoric dwarfism Ulna dysplasia Rare Cancer and Adrenocortical tumours Acute monoblastic leukaemia Tumours Carcinoid tumours Brain tumour Craniopharyngioma Colon cancer, familial nonpolyposis Embryonal tumours of CNS Craniopharyngioma Ependymoma Desmoid disease Epithelial thymic tumours in -
Covid-19 and Ectodermal Dysplasia Article
COVID-19 and ectodermal dysplasias. Recommendations are necessary. Michele Callea: Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy [email protected] Colin Eric Willoughby: Ulster University and Belfast Health and Social Care Trust, NI, UK [email protected] Diana Perry: UK Ectodermal Dysplasia Society President [email protected] Ulrike Holzer: Leader of EDIN Ectodermal Dysplasia International Network. Austria [email protected] Giulia Fedele: Presidente ANDE, Associazione Nazionale Displasia Ectodermica. Italy [email protected] Antonio Cárdenas Tadich: Pediatrics Service, Regional Hospital of Antofagasta, Chile [email protected] Francisco Cammarata-Scalisi: Pediatrics Service, Regional Hospital of Antofagasta, Chile [email protected] Conflict of interest: None Running title: COVID-19 and ectodermal dysplasias Sources of support if any: None Disclaimer: “We confirm that the manuscript has been read and approved by all the authors, that the requirements for authorship as stated earlier in this document have been met, and that each author believes that the manuscript represents honest work” Corresponding author: This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record.This Please article cite this is protected article as doi:by copyright. 10.1111/dth.13702 All rights reserved. Francisco Cammarata-Scalisi: