Photodermatoses in Children
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Clinical and Biochemical Characteristics and Genotype – Phenotype Correlation in Finnish Variegate Porphyria Patients
European Journal of Human Genetics (2002) 10, 649 – 657 ª 2002 Nature Publishing Group All rights reserved 1018 – 4813/02 $25.00 www.nature.com/ejhg ARTICLE Clinical and biochemical characteristics and genotype – phenotype correlation in Finnish variegate porphyria patients Mikael von und zu Fraunberg*,1, Kaisa Timonen2, Pertti Mustajoki1 and Raili Kauppinen1 1Department of Medicine, Division of Endocrinology, University Central Hospital of Helsinki, Biomedicum Helsinki, Helsinki, Finland; 2Department of Dermatology, University Central Hospital of Helsinki, Biomedicum Helsinki, Helsinki, Finland Variegate porphyria (VP) is an inherited metabolic disease resulting from the partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway. We have evaluated the clinical and biochemical outcome of 103 Finnish VP patients diagnosed between 1966 and 2001. Fifty-two per cent of patients had experienced clinical symptoms: 40% had photosensitivity, 27% acute attacks and 14% both manifestations. The proportion of patients with acute attacks has decreased dramatically from 38 to 14% in patients diagnosed before and after 1980, whereas the prevalence of skin symptoms had decreased only subtly from 45 to 34%. We have studied the correlation between PPOX genotype and clinical outcome of 90 patients with the three most common Finnish mutations I12T, R152C and 338G?C. The patients with the I12T mutation experienced no photosensitivity and acute attacks were rare (8%). Therefore, the occurrence of photosensitivity was lower in the I12T group compared to the R152C group (P=0.001), whereas no significant differences between the R152C and 338G?C groups could be observed. Biochemical abnormalities were significantly milder suggesting a milder form of the disease in patients with the I12T mutation. -
Photodermatoses Update Knowledge and Treatment of Photodermatoses Discuss Vitamin D Levels in Photodermatoses
Ashley Feneran, DO Jenifer Lloyd, DO University Hospitals Regional Hospitals AMERICAN OSTEOPATHIC COLLEGE OF DERMATOLOGY Objectives Review key points of several photodermatoses Update knowledge and treatment of photodermatoses Discuss vitamin D levels in photodermatoses Types of photodermatoses Immunologically mediated disorders Defective DNA repair disorders Photoaggravated dermatoses Chemical- and drug-induced photosensitivity Types of photodermatoses Immunologically mediated disorders Polymorphous light eruption Actinic prurigo Hydroa vacciniforme Chronic actinic dermatitis Solar urticaria Polymorphous light eruption (PMLE) Most common form of idiopathic photodermatitis Possibly due to delayed-type hypersensitivity reaction to an endogenous cutaneous photo- induced antigen Presents within minutes to hours of UV exposure and lasts several days Pathology Superficial and deep lymphocytic infiltrate Marked papillary dermal edema PMLE Treatment Topical or oral corticosteroids High SPF Restriction of UV exposure Hardening – natural, NBUVB, PUVA Antimalarial PMLE updates Study suggests topical vitamin D analogue used prophylactically may provide therapeutic benefit in PMLE Gruber-Wackernagel A, Bambach FJ, Legat A, et al. Br J Dermatol, 2011. PMLE updates Study seeks to further elucidate the pathogenesis of PMLE Found a decrease in Langerhans cells and an increase in mast cell density in lesional skin Wolf P, Gruber-Wackernagel A, Bambach I, et al. Exp Dermatol, 2014. Actinic prurigo Similar to PMLE Common in native -
Various Clinical and Histopathological Patterns of Idiopathic Photodermatosis: an Observational Study
Review Article Clinician’s corner Images in Medicine Experimental Research Case Report Miscellaneous Letter to Editor DOI: 10.7860/JCDR/2018/28950.12274 Original Article Postgraduate Education Various Clinical and Histopathological Case Series Patterns of Idiopathic Photodermatosis: Dermatology Section An Observational Study Short Communication DIMPLE CHOPRA1, RAVINDER SINGH2, RK BAHL3, RAMESH KUMAR KUNDAL4, SHIVALI AGGARWAL5, AASTHA SHARMA6, AANCHAL SINGLA7 ABSTRACT presented in the age group of 56-70 years. Total 95% cases Introduction: The idiopathic photodermatosis have different had lesions on photoexposed parts of upper limbs followed by histopathological patterns, spongiotic pattern being the most neck involvement in 51% cases. The most common presenting common. symptom was itching, seen in 98% patients. Polymorphic Light Eruption (PMLE) was the clinical diagnosis in 97% cases. Aim: To study the histopathological patterns of photodermatosis The most common histopathological pattern observed was and to correlate between the clinical and histopathological Spongiotic pattern which was seen in 46% cases. findings. Conclusion: While young females in the age group 26-40 year Materials and Methods: Hundered consecutive patients with were more commonly affected, lesions were more common lesions of idiopathic photodermatosis were included in this in men who were in the age group 56-70 year. Population in cross-sectional observational study. The clinical diagnosis was North India may be at greater risk because their skin is suddenly made and confirmed after thorough history, clinical examination exposed to sun in spring and summer after the end of winter and relevant investigations, including biopsy. season. The PMLE was the most common subtype. Spongiotic Results: In this study 49 participants were male and 51 were pattern was the most common histopathological pattern found, female. -
2016 Essentials of Dermatopathology Slide Library Handout Book
2016 Essentials of Dermatopathology Slide Library Handout Book April 8-10, 2016 JW Marriott Houston Downtown Houston, TX USA CASE #01 -- SLIDE #01 Diagnosis: Nodular fasciitis Case Summary: 12 year old male with a rapidly growing temple mass. Present for 4 weeks. Nodular fasciitis is a self-limited pseudosarcomatous proliferation that may cause clinical alarm due to its rapid growth. It is most common in young adults but occurs across a wide age range. This lesion is typically 3-5 cm and composed of bland fibroblasts and myofibroblasts without significant cytologic atypia arranged in a loose storiform pattern with areas of extravasated red blood cells. Mitoses may be numerous, but atypical mitotic figures are absent. Nodular fasciitis is a benign process, and recurrence is very rare (1%). Recent work has shown that the MYH9-USP6 gene fusion is present in approximately 90% of cases, and molecular techniques to show USP6 gene rearrangement may be a helpful ancillary tool in difficult cases or on small biopsy samples. Weiss SW, Goldblum JR. Enzinger and Weiss’s Soft Tissue Tumors, 5th edition. Mosby Elsevier. 2008. Erickson-Johnson MR, Chou MM, Evers BR, Roth CW, Seys AR, Jin L, Ye Y, Lau AW, Wang X, Oliveira AM. Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Lab Invest. 2011 Oct;91(10):1427-33. Amary MF, Ye H, Berisha F, Tirabosco R, Presneau N, Flanagan AM. Detection of USP6 gene rearrangement in nodular fasciitis: an important diagnostic tool. Virchows Arch. 2013 Jul;463(1):97-8. CONTRIBUTED BY KAREN FRITCHIE, MD 1 CASE #02 -- SLIDE #02 Diagnosis: Cellular fibrous histiocytoma Case Summary: 12 year old female with wrist mass. -
Ultraviolet Radiation
Environmental Health Criteria 160 Ultraviolet Radiation An Authoritative Scientific Review of Environmental and Health Effects of UV, with Reference to Global Ozone Layer Depletion V\JflVV ptiflcti1p cii ii, L?flUctd EnrrcmH Prormwe. Me World Haah6 Orgniri1ion and Fhc nIrrHbccrlT Ornrn)is5ion on Nfl-oflizirig Raditiori Prioiioii THE Ef4VIRONMEF4FAL HEALTH CI4ITERIA SERIES Acetonitrile (No. 154, 1993) 2,4-Dichloroplierioxyaceric acid (2 4 D) (No 29 Acrolein (No 127, 1991) 1984) Acrylamide (No 49, 1985) 2,4.Dichlorophenoxyucetic acd - erivirorrmerrtul Acr5lonilrile (No. 28, 1983) aspects (No. 54, 1989) Aged population, principles for evaluating the 1 ,3-Dichloroproperte, 1,2-dichloropropane and effects of chemicals (No 144, 1992) mixtures (No. 146, 1993( Aldicarb (No 121, 1991) DDT and its derivatives (No 9 1979) Aidrin and dieldrin (No 91 1989) DDT and its derivatives - environmental aspects Allethrins (No 87, 1989) (No. 83, 1989) Alpha-cypermethrirr (No 142, 1992) Deltamethrin (No 97, 1990) Ammonia (No 54, 1985) Diamirrotoluenes (No 74, 1987( Arsenic (No 18. 1981) Dichiorsos (No. 79, 1988) Asbestos and other natural mineral fibres Diethylhexyl phthalate (No. 131, 191112) (No. 53, 198€) Dirnethoate (No 90, 1989) Barium (No. 137 1990) Dimethylformnmde (No 114, 1991) Benomy( (No 143, 1993) Dimethyf sulfate (No. 48. 1985) Benzene (No 150, 1993) Diseases of suspected chemical etiology and Beryllium (No 106, 1990( their prevention principles of studies on Biommkers and risk assessment concepts (No. 72 1967) and principles (No. 155, 1993) Dilhiocarbsmats pesticides, ethylerrvthiourea, and Biotoxins, aquatic (marine and freshmaterl propylerrethiourea a general introdUCtiori (No 37, 1984) NO. 78. 1958) Butanols . four isomers (No. 65 1987) Electromagnetic Fields (No 1 '37 19921 Cadmiurrr (No 134 1992) Endosulfan (No 40. -
Ex Vivo Gene Therapy: a “Cultured” Surgical Approach to Curing Inherited Liver Disease
Mini Review Open Access J Surg Volume 10 Issue 3 - March 2019 Copyright © All rights are reserved by Joseph B Lillegard DOI: 10.19080/OAJS.2019.10.555788 Ex Vivo Gene Therapy: A “Cultured” Surgical Approach to Curing Inherited Liver Disease Caitlin J VanLith1, Robert A Kaiser1,2, Clara T Nicolas1 and Joseph B Lillegard1,2,3* 1Department of Surgery, Mayo Clinic, Rochester, MN, USA 2Midwest Fetal Care Center, Children’s Hospital of Minnesota, Minneapolis, MN, USA 3Pediatric Surgical Associates, Minneapolis, MN, USA Received: February 22, 2019; Published: March 21, 2019 *Corresponding author: Joseph B Lillegard, Midwest Fetal Care Center, Children’s Hospital of Minnesota, Minneapolis, Minnesota, USA and Mayo Clinic, Rochester, Minnesota, USA Introduction Inborn errors of metabolism (IEMs) are a group of inherited diseases caused by mutations in a single gene [1], many of which transplant remains the only curative option. Between 1988 and 2018, 12.8% of 17,009 pediatric liver transplants in the United States(see were primarily due to an inherited liver). disease. are identified in Table 1. Though individually rare, combined incidence is about 1 in 1,000 live births [2]. While maintenance www.optn.transplant.hrsa.gov/data/ Table 1: List of 35 of the most common Inborn Errors of Metabolism. therapies exist for some of these liver-related diseases, Inborn Error of Metabolism Abbreviation Hereditary Tyrosinemia type 1 HT1 Wilson Disease Wilson Glycogen Storage Disease 1 GSD1 Carnitine Palmitoyl Transferase Deficiency Type 2 CPT2 Glycogen Storage -
Quality of Life and Photodermatoses in People with Albinism in Benin City Nigeria
QUALITY OF LIFE AND PHOTODERMATOSES IN PEOPLE WITH ALBINISM IN BENIN CITY NIGERIA DISSERTATION SUBMITTED TO NATIONAL POSTGRADUATE MEDICAL COLLEGE OF NIGERIA IN PARTIAL FULFILMENT OF THE REQUIREMENTS FOR THE FELLOWSHIP IN INTERNAL MEDICINE (SUB-SPECIALTY: DERMATOLOGY) BY DR CYNTHIA ROLI MADUBUKO MB,BS (BENIN) DEPARTMENT OF MEDICINE UNIVERSITY OF BENIN TEACHING HOSPITAL, BENIN CITY, EDO STATE, NIGERIA NOVEMBER, 2016. i DECLARATION I hereby declare that this work is original and no part of it has been presented to any other college for a fellowship dissertation nor has it been submitted elsewhere for publication. Signature.................................... Date........................... Dr. Cynthia Roli Madubuko ii SUPERVISION We the undersigned have supervised the writing of this dissertation and the execution of this study. SIGNATURE: …………………………………… DATE: …………………………………………… YEAR OF FELLOWSHIP: ……………………… DR. B. OKWARA MBBS, FMCP Consultant Physician/ Dermatologist and Venereologist Department of Internal Medicine, University of Benin Teaching Hospital, Benin City, Nigeria. SIGNATURE: …………………………………… DATE: …………………………………………… YEAR OF FELLOWSHIP: ……………………… PROF. A.N. ONUNU MBBS, FWACP, FACP Consultant Physician/ Dermatologist and Venereologist Department of Internal Medicine, University of Benin Teaching Hospital, Benin City, Nigeria. SIGNATURE: …………………………………… DATE: …………………………………………… YEAR OF FELLOWSHIP: ……………………… PROF. E.P KUBEYINJE MBBS, FRCP (London), FWACP Consultant Physician Dermatologist and Venereologist Department of Internal Medicine, University of Benin Teaching Hospital, Benin City, Nigeria. iii CERTIFICATION I certify that this is a part 2 dissertation of the National postgraduate Medical College of Nigeria by Dr. Cynthia Roli Madubuko, of the Department of Internal Medicine, University of Benin Teaching Hospital, Benin City, under the supervision of Prof. A.N Onunu, Prof. E.P. Kubeyinje and Dr. B. Okwara Sign……………………………………. Date.............................................. DR OMUEMU, MBBS, FWACP. -
Variegate Porphyria with Coexistent Decrease in Porphobilinogen Deaminase Activity
Acta Derm Venereol 2001; 81: 356–359 CLINICAL REPORT Variegate Porphyria with Coexistent Decrease in Porphobilinogen Deaminase Activity GEORG WEINLICH1, MANFRED O. DOSS2, NORBERT SEPP1 and PETER FRITSCH1 1Department of Dermatology, University of Innsbruck, Innsbruck, Austria and 2Department of Clinical Biochemistry, University of Marburg, Marburg, Germany Variegate porphyria is a rare disease caused by a de ciency of deaminase. Its activity is reduced by about 50%, resulting in protoporphyrinogen oxidase. In most cases, the clinical ndings are varying degrees of overproduction and increased urinary excre- a combination of systemic symptoms similar to those occurring in tion of delta-aminolaevulinic acid (ALA) and PBG. In AIP, acute intermittent porphyria and cutaneous lesions indistinguishable skin changes are absent, but patients suVer from episodic from those of porphyria cutanea tarda. We report on a 24-year- central or peripheral nervous system and/or psychiatric symp- old woman with variegate porphyria who, after intake of lynestrenol, toms, or acute attacks of abdominal pain (2, 4). developed typical cutaneous lesions but no viscero-neurological Variegate porphyria (VP), a rare autosomal-dominant hep- symptoms. The diagnosis was based on the characteristic urinary atic porphyria due to a de ciency of protoporphyrinogen coproporphyrin and faecal protoporphyrin excretion patterns, and (PROTO) oxidase, the related gene (PPOX ) for which has the speci c peak of plasma uorescence at 626 nm in spectro uor- been located to chromosome 1q22-23 (5, 6), is characterized ometry. Biochemical analysis revealed that most of the family by both acute neurological symptoms as in AIP and skin members, though free of clinical symptoms, excrete porphyrin lesions indistinguishable from PCT; it is thus also termed metabolites in urine and stool similar to variegate porphyria, mixed porphyria (2, 7, 8). -
Demystification of Chester Porphyria: a Nonsense Mutation in the Porphobilinogen Deaminase Gene
Physiol. Res. 55 (Suppl. 2): S137-S144, 2006 Demystification of Chester Porphyria: A Nonsense Mutation in the Porphobilinogen Deaminase Gene *P. POBLETE-GUTIÉRREZ1, *T. WIEDERHOLT2, 3, A. MARTINEZ-MIR4, H. F. MERK2, J. M. CONNOR5, A. M. CHRISTIANO4, 6, J. FRANK1,2,3 1Department of Dermatology, University Hospital Maastricht, The Netherlands, 2Department of Dermatology and Allergology and 3Porphyria Center, University Hospital of the RWTH Aachen, Germany, 4Department of Dermatology, Columbia University, New York, NY, USA, 5Institute of Medical Genetics, Yorkhill Hospitals, Glasgow, Scotland, 6Department of Genetics and Develop- ment, Columbia University, New York, NY, USA Received October 4, 2005 Accepted March 24, 2006 Summary The porphyrias arise from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. All genes encoding these enzymes have been cloned and several mutations underlying the different types of porphyrias have been reported. Traditionally, the diagnosis of porphyria is made on the basis of clinical symptoms, characteristic biochemical findings, and specific enzyme assays. In some cases however, these diagnostic tools reveal overlapping findings, indicating the existence of dual porphyrias with two enzymes of heme biosynthesis being deficient simultane- ously. Recently, it was reported that the so-called Chester porphyria shows features of both variegate porphyria and acute intermittent porphyria. Linkage analysis revealed a novel chromosomal locus on chromosome 11 for the underly- ing genetic defect in this disease, suggesting that a gene that does not encode one of the enzymes of heme biosynthesis might be involved in the pathogenesis of the porphyrias. After excluding candidate genes within the linkage interval, we identified a nonsense mutation in the porphobilinogen deaminase gene on chromosome 11q23.3, which harbors the mutations causing acute intermittent porphyria, as the underlying genetic defect in Chester porphyria. -
Hydroa Vacciniforme: a Very Rare Photodermatosis
International Journal of Advances in Medicine Dhillon KS et al. Int J Adv Med. 2014 Aug;1(2):149-152 http://www.ijmedicine.com pISSN 2349-3925 | eISSN 2349-3933 DOI: 10.5455/2349-3933.ijam20140802 Case Report Hydroa vacciniforme: a very rare photodermatosis K. S. Dhillon1*, Tarunveer Singh1, Deepak Sharma1, K. R. Varshney2, Nikha Garg1, Priyanka Priya3, Uroos Fatima4, Simmi Chawla5 1Department of Dermatology, Era’s Lucknow Medical College, Lucknow, Uttar Pradesh, India 2Department of Microbiology, Era’s Lucknow Medical College, Lucknow, Uttar Pradesh, India 3Department of Psychiatry, Era’s Lucknow Medical College, Lucknow, Uttar Pradesh, India 4Department of Pathology, Era’s Lucknow Medical College, Lucknow, Uttar Pradesh, India 5 Department of Ophthalmology, Era’s Lucknow Medical College, Lucknow, Uttar Pradesh, India Received: 28 May 2014 Accepted: 28 June 2014 *Correspondence: Dr. K. S. Dhillon, E-mail: [email protected] Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Hydroa Vacciniforme (HV) is a rare, acquired and chronic paediatric disorder that is characterized by photosensitivity and recurrent crops of skin lesions on sun-exposed skin, such as the face, ears and hands that heal with vacciniforme scarring. The pathogenesis of HV is unknown. No chromosome abnormality has been identified so far. HV patients have no abnormal laboratory results. The histopathologic features are distinctive and demonstrate intraepidermal multilocular vesicles and cellular necrosis. -
A High Urinary Urobilinogen / Serum Total Bilirubin Ratio Reported in Abdominal Pain Patients Can Indicate Acute Hepatic Porphyria
A High Urinary Urobilinogen / Serum Total Bilirubin Ratio Reported in Abdominal Pain Patients Can Indicate Acute Hepatic Porphyria Chengyuan Song Shandong University Qilu Hospital Shaowei Sang Shandong University Qilu Hospital Yuan Liu ( [email protected] ) Shandong University Qilu Hospital https://orcid.org/0000-0003-4991-552X Research Keywords: acute hepatic porphyria, urinary urobilinogen, serum total bilirubin Posted Date: June 14th, 2021 DOI: https://doi.org/10.21203/rs.3.rs-587707/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 1/10 Abstract Background: Due to its variable symptoms and nonspecic laboratory test results during routine examinations, acute hepatic porphyria (AHP) has always been a diagnostic dilemma for physicians. Misdiagnoses, missed diagnoses, and inappropriate treatments are very common. Correct diagnosis mainly depends on the detection of a high urinary porphobilinogen (PBG) level, which is not a routine test performed in the clinic and highly relies on the physician’s awareness of AHP. Therefore, identifying a more convenient indicator for use during routine examinations is required to improve the diagnosis of AHP. Results: In the present study, we retrospectively analyzed laboratory examinations in 12 AHP patients and 100 patients with abdominal pain of other causes as the control groups between 2015 and 2021. Compared with the control groups, AHP patients showed a signicantly higher urinary urobilinogen level during the urinalysis (P < 0.05). However, we showed that the higher urobilinogen level was caused by a false- positive result due to a higher level of urine PBG in the AHP patients. Hence, we used serum total bilirubin, an upstream substance of urinary urobilinogen synthesis, for calibration. -
Hydroa Vacciniforme-Like Lymphoproliferative Disorder in Korea
www.nature.com/scientificreports OPEN Hydroa vacciniforme‑like lymphoproliferative disorder in Korea Byeol Han1,2, Keunyoung Hur1, Jungyoon Ohn1,2, Tae Min Kim3,4, Yoon Kyung Jeon4,5, You Chan Kim6 & Je‑Ho Mun1,2* Hydroa vacciniforme‑like lymphoproliferative disorder (HVLPD) is a rare Epstein–Barr virus (EBV)‑ associated lymphoproliferative disease. The disease course of HVLPD varies from an indolent course to progression to aggressive lymphoma. We investigated the characteristics of HVLPD in Korean patients. HVLPD patients at Seoul National University Hospital between 1988 and 2019 were retrospectively analyzed. This study included 26 HVLPD patients who all presented with recurrent papulovesicular and necrotic eruption on the face, neck, and extremities. EBV was detected from the skin tissues of all patients. HVLPD was diagnosed during childhood (age < 18 years) in seven patients (26.9%) and in adulthood (age ≥ 18 years) in 19 cases (73.1%). The median age at diagnosis was 24.0 years (range 7–70 years). HVLPD has various clinical courses, from an indolent course to progression to systemic lymphoma. Fourteen patients (53.8%) developed lymphoma: systemic EBV‑ positive T‑cell lymphoma (n = 9, 34.6%); extranodal natural killer/T‑cell lymphoma, nasal type (n = 3, 11.5%); aggressive natural killer/T‑cell leukemia (n = 1, 3.8%); and EBV‑positive Hodgkin lymphoma (n = 1, 3.8%). Mortality due to HVLPD occurred in fve patients (26.3%) in the adult group, while it was one patient (14.3%) in the child group. As lymphoma progression and mortality occur not only in childhood but also in adulthood, adult‑onset cases may need more careful monitoring.