DOCSLIB.ORG

Well-Appearing Newborn with a Vesiculobullous Rash at Birth Sarah E

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Well-Appearing Newborn with a Vesiculobullous Rash at Birth Sarah E Sarah E. Stewart, MD, a Jody L. Lin, MD, b Jennifer L. Everhart, MD,b Trung H. Pham, MD, PhD, c Well-AppearingAnn L. Marqueling, MD, d, e Kerri E. Rieger, MD, PhD, d,Newborn f Sarah L. Hilgenberg, MDb With a Vesiculobullous Rash at Birth abstract A term, appropriate-for-gestational-age, male infant born via normal spontaneous vaginal delivery presented at birth with a full-body erythematous, vesiculobullous rash. He was well-appearing with normal vital signs and hypoglycemia that quickly resolved. His father had a history Divisions of aGeneral Pediatrics, bPediatric Hospital c of herpes labialis. His mother had an episode of herpes zoster during Medicine, and Pediatric Infectious Diseases, Department of Pediatrics, Lucile Packard Children’s Hospital Stanford, pregnancy and a prolonged rupture of membranes that was adequately Palo Alto, California; and Departments of dDermatology, e f treated. The patient underwent a sepsis workup, including 2‍ attempted Pediatrics, and Pathology, School of Medicine, Stanford University, Stanford, California but unsuccessful lumbar punctures, and was started on broad-spectrum antibiotics and acyclovir, given concerns about bacterial or viral infection. Dr Stewart contributed to the conception and design of the case presentation, drafted the The rash evolved over the course of several days. Subsequent workup, with initial manuscript, and reviewed and revised the particular attention to his history and presentation, led to his diagnosis. manuscript; Drs Lin and Everhart contributed to the conception and design of the case presentation and CASE HISTORY WITH SUBSPECIALTY reviewed and revised the manuscript; Drs Pham, Marqueling, and Reiger drafted their sections of INPUT ’ tests were negative for infection, the initial manuscript and reviewed and revised Dr Sarah Stewart (Pediatrics, First- the patient s mother received 3 the manuscript; Dr Hilgenberg contributed to the Year Resident) conception and design of the case presentation, dosesStreptococcus of clindamycin because of a drafted portions of the initial manuscript, and history of previous neonatal group ’ reviewed and revised the manuscript; and B (‍GBS) infection. The all authors approved the final manuscript as ’ The patient was a term, appropriate- patient s father had a history of herpes submitted. for-gestational-age, male infant born labialis. The patient s mother denied DOI: https:// doi. org/ 10. 1542/ peds. 2017- 0236 via normal spontaneous vaginal any history of herpes labialis or herpes Accepted for publication Jul 17, 2017 delivery who presented at birth with genitalis. ’ Address correspondence to Sarah E. Stewart, a full-body rash. The rash appeared MD, Division of General Pediatrics, Department The patient s initial laboratory results as diffuse discrete erythematous µ of Pediatrics, Lucile Packard Children’s Hospital, at 2‍ hours of life included a white 725 Welch Rd, Mail Code 5906, Palo Alto, CA 94304. papules and plaques with occasional – µ blood cell count of 2‍4.4 K/ L (‍normal: E-mail: [email protected] overlying fluid-filled vesicles and – 7.5 30.0 K/ L) with 74% neutrophils PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, bullae, most prominent on the face and – (‍normal: 32‍.0% 68.0%), 2‍0% 1098-4275). scalp but sparing mucous membranes, – lymphocytes (‍normal: 2‍4.0% 36.0%), Copyright 2018 by the American Academy of palms, and soles (‍Figs 1 and 2‍). He – © 4% monocytes (‍normal: 0.0% 0.9%), Pediatrics was well-appearing with normal vital – signs, Apgar scores of 8 and 9, a birth 1% eosinophils (‍normal: 0.0% 2‍.0%), FINANCIAL DISCLOSURE: Dr Lin received support weight of 3768 g, and an examination and 0% basophils (‍normal: 0.0% from the KL2 Mentored Career Development Award ’ – with results that were otherwise 1.0%); a C-reactive protein (‍CRP) level of the Stanford Clinical and Translational Science Award to Spectrum (NIH KL2 TR 001083, UL1 TR of 0.03 mg/dL (‍normal: 0.00 0.99 normal. His mother s pregnancy was – 001085) and the Clinical Excellence Research remarkable for presumed herpes mg/dL); a blood glucose level of 32‍ Center; the other authors have indicated they have mg/dL (‍normal: 45 110 mg/dL); an no financial relationships relevant to this article to zoster at 31 weeks that resolved – with valacyclovir. She had a history aspartate aminotransferase level of disclose. 68 IU/L (‍normal: 15 41 IU/L); an FUNDING: No external funding. of primary varicella-zoster at 2‍ years – alanine transaminase level of 8 IU/L of age and 2‍ episodes of herpes – zoster before this pregnancy. Labor (‍normal: 11 63 IU/L); a total bilirubin To cite: Stewart SE, Lin JL, Everhart JL, et al. Well- level of 3.1 mg/dL (‍normal: 2‍.0 6.0 Appearing Newborn With a Vesiculobullous Rash and delivery were complicated by a – prolonged rupture of membranes (‍2‍0 mg/dL); and an alkaline phosphatase at Birth. Pediatrics. 2018;141(3):e20170236 hours) and meconium-stained fluid. level of 110 IU/L (‍normal: 30 300 Though maternal prenatal laboratory IU/L). The remaining results of the Downloaded from www.aappublications.org/news by guest on September 28, 2021 PEDIATRICS Volume 141, number 3, March 2018:e20170236 DIAGNOSTIC DILEMMAS FIGURE 1 Patient on first day of life. Coalescing erythematous vesicles are seen on the face, and dull gray and erythematous patches and plaques are seen on the body and extremities. The mucous membranes, hands, and the soles of the feet are spared. complete blood cell (‍CBC) count and comprehensive metabolic panel were unremarkable. Dr Hilgenberg, as a pediatric hospitalist assuming care of this infant after birth, what is your Drdifferential Hilgenberg diagnosis? (Pediatric Hospitalist) FIGURE 2 A, Lesions on the first day of life. B, New lesions on fingers on the fourth day of life. C, New lesions on ’ cheeks on the fourth day of life. D, Lesions on the fifth day of life. The forehead vesicles became less raised and less erythematous. A few new lesions appeared on the scalp. This infant s presentation is most “ ” concerning for one of the following: (‍1) a congenital TORCH infection, which is an infection caused by hepatosplenomegaly, intracranial cerebrospinal fluid pleocytosis, toxoplasmosis, other pathogens calcifications, and rash, as well as or elevated cerebrospinal fluid (‍varicella-zoster virus [VZV], syphilis, laboratory abnormalities. Despite protein. The incidence of congenital enteroviruses, or parvovirus B19), these common features, some clinical toxoplasmosis in the United rubella, cytomegalovirus, or herpes 1 ’ manifestations are more suggestive States is 1 4in 1000 to 1 in 10 000 simplex virus (‍HSV) ; (‍2‍) bacterial of particular infections in the newborns. sepsis, given the mother s previous neonate. neonatal GBS infection with her 2‍ For instance, congenital Congenital syphilis is characterized last pregnancy ; and (‍3) a primary toxoplasmosis has 4 subtypes: as either early, presenting before dermatologic condition such as subclinical, severe neonatal disease, 2‍ years of age but typically within Drepidermolysis Stewart bullosa (‍EB). mild or severe disease in the first the first 5 weeks of life, or late, few months of life, and sequelae presenting after 2‍ years of age. or relapse of an undiagnosed, Differentiating findings among How and when do TORCH infections typically ocular, infection later infants with early congenital typically present? What, if any, are in childhood. The minority of syphilis include nasal discharge, their dermatologic manifestations, ’ patients who are symptomatic maculopapular rash (‍particularly on given that skin lesions are our at birth may present with the the palms, soles, and diaper area), Drpatient Hilgenbergs only sign of illness? classic triad of chorioretinitis, generalized lymphadenopathy, and hydrocephalus, and intracranial skeletal abnormalities. Patients with calcifications. Dermatologic late congenital syphilis present with Interestingly, the majority of live- features include a maculopapular,1, 3 physical anomalies, such as teeth born infants with TORCH infections3 petechial, or purpuric rash. or bony abnormalities, but rarely are asymptomatic at birth. When Additional signs and symptoms present with rash. The Centers for symptomatic, common features can include fever, seizures, Disease Control and Prevention include microcephaly, intrauterine generalized lymphadenopathy, reports that the incidence of growth restriction, jaundice, thrombocytopenia, mononuclear congenital syphilis in the United Downloaded from www.aappublications.org/news by guest on September 28, 2021 2 STEWART et al States is 11.65 cases per 100000 cortical atrophy or seizures. If stable, meningitis is a potentially newborns. present, the rash in both HSV and devastating consequence of TORCH Congenital rubella syndrome can VZV is vesicular in nature. The infections and bacterial sepsis, include sensorineural hearing Centers for Disease Control and so lumbar puncture should be loss, ocular disease (‍cataracts, Prevention reports that the incidence considered. I would be inclined congenital glaucoma), cardiac of congenital varicella in the United to start empirical treatment with defects, bone disease, hemolytic States is 0.4% to 2‍.0% of newborns broad-spectrum antibiotics for “ ” anemia, thrombocytopenia, born to mothers with varicella in the possible bacterial sepsis and blueberry muffin rash, or first or second trimester. Neonatal antiviral agents for possible HSV varicella, a much more severe and or VZV. Lastly, I would consider petechiae and purpura caused3 by dermal
Load more

Recommended publications
  • 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.
    [Show full text]
  • 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
    [Show full text]
  • Dumitras, Cu, MC; Popa, A.; Petca, A.; Miulescu, R.-G. Cutaneous Mastocytosis in Childhood—Update from the Literature
    Journal of Clinical Medicine Review Cutaneous Mastocytosis in Childhood—Update from the Literature 1,2 1,3 1,4 1,5, Florica Sandru ,Răzvan-Cosmin Petca , Monica Costescu , Mihai Cristian Dumitras, cu *, Adelina Popa 2, Aida Petca 1,6,* and Raluca-Gabriela Miulescu 1,7 1 “Carol Davila” University of Medicine and Pharmacy, 030167 Bucharest, Romania; fl[email protected] (F.S.); [email protected] (R.-C.P.); [email protected] (M.C.); [email protected] (R.-G.M.) 2 Department of Dermatology, Elias University Emergency Hospital, 0611461 Bucharest, Romania; [email protected] 3 Department of Urology, “Prof. Dr. Theodor Burghele” Clinical Hospital, 061344 Bucharest, Romania 4 Department of Dermatology, “Dr. Victor Babes” Clinical Hospital of Infectious and Tropical Diseases, 030303 Bucharest, Romania 5 Department of Obstetrics & Gynecology, University Emergency Hospital, 050098 Bucharest, Romania 6 Department of Obstetrics & Gynecology, Elias University Emergency Hospital, 0611461 Bucharest, Romania 7 Department of Dermatology, Vălenii de Munte Hospital, 106400 Prahova, Romania * Correspondence: [email protected] (M.C.D.); [email protected] (A.P.); Tel.: +40-722-223223 (M.C.D.); +40-745-787448 (A.P.) Abstract: Mastocytosis (M) represents a systemic pathology characterized by increased accumulation and clonal proliferation of mast cells in the skin and/or different organs. Broadly, M is classified into two categories: Cutaneous mastocytosis (CM) and systemic mastocytosis (SM). In children, CM is Citation: Sandru, F.; Petca, R.-C.; the most frequent form. Unfortunately, pathogenesis is still unclear. It is thought that genetic factors Costescu, M.; Dumitras, cu, M.C.; are involved, but further studies are necessary. As for features of CM, the lesions differ in clinical Popa, A.; Petca, A.; Miulescu, R.-G.
    [Show full text]
  • PROMIS Itch Questionnaire – Children Symptom (PIQ-C-Symptom) Letter of Intent
    Clinical Outcome Assessments (COA) Qualification Program DDT COA #000140: PROMIS Itch Questionnaire – Children Symptom (PIQ-C-Symptom) Letter of Intent Section 1. Administrative Structure This project has been led by Amy Paller, MD (PI of sub-study that developed the PIQ-C and co-PI of the PEPR project at Northwestern University) from the Dermatology and Pediatrics departments at Northwestern University (676 N. St. Clair, Suite 1600, Chicago, IL 60611) and Jin-Shei Lai, Ph.D. (contact co-PI of the PEPR project at Northwestern University) from the Medical Social Sciences and Pediatrics departments at Northwestern University (625 N. Michigan Avenue, 21st floor, Chicago, IL 60611). Dr. Paller has had 35 years of experience in caring for children with disorders causing itch. She is Chair of the Dept. of Dermatology, directs the Skin Disease Research Center at Northwestern (now Skin Biology and Diseases Resource-based Center) as well as the Pediatric Dermatology Clinical Research Unit, and has been the PI of more than 100 clinical trials in children with disorders associated with pruritus (atopic dermatitis, epidermolysis bullosa, ichthyosis, psoriasis), most of which involve measuring itch and quality of life. She has authored more than 250 peer-reviewed papers related to these disorders. She has been working on developing and validating PRO tools during the past 5 years, including through this project. Dr. Lai has significant experience in patient reported outcomes, including burden of disease and treatment impact studies across a range of pediatric and adult conditions. She has served as a principal investigator and co-investigator on several federal and foundation funded projects and is the lead developer of several pediatric and adult quality of life and symptom measurement instruments, including the PROMIS Fatigue and Cognition item banks for both adults and children, pediatric Neuro-QoL measurement system, and the pediatric Functional Assessment of Chronic Illness Therapy (pedsFACIT).
    [Show full text]
  • Urticaria Pigmentosa: a Case Report and Review of Current Standards in the Diagnosis of Systemic Mastocytosis
    Urticaria Pigmentosa: A Case Report and Review of Current Standards in the Diagnosis of Systemic Mastocytosis Riddhi J. Shah, DO,* Mark A. Kuriata, DO, FAOCD** *Dermatology Resident, 2nd year, MSUCOM/Lakeland Regional Medical Center, St. Joseph, MI **Dermatology Residency Program Director, MSUCOM/Lakeland Regional Medical Center, St. Joseph, MI Abstract Mastocytosis is a group of diseases that is characterized by mast-cell infiltration of the skin. The cutaneous forms of the disease are most identifiable, yet it is important to recognize the progression to systemic disease due to the eaffect on morbidity and mortality. We Our goal is to describe a case of cutaneous mastocytosis as well as review the current standards in diagnosis and management of systemic mastocytosis. Introduction patient had several bouts of loose stools. This and spleen did not reveal any organomegaly. Mast-cell disease is a rare disorder, primarily was accompanied by bloating and indigestion, Muscle strength and tone appeared to be within of childhood, that is usually self-resolving. which occurred 30 minutes after a meal. A normal limits. There were no palpable lymph Approximately two-thirds of cases are limited to colonoscopy was performed one year prior at an nodes in the neck, axillae or groin regions. outside facility, and it was within normal limits. the skin. The most common forms of cutaneous Our differential diagnosis included systemic However, no biopsies were performed to look mastocytosis include: mastocytoma, urticaria mastocytosis as well as carcinoid syndrome, for mast-cell infiltration of the digestive tract. pigmentosa, telangiectasia macularis eruptiva pheochromocytoma, inflammatory bowel disease, Our patient also had sharp, intermittent, left perstans, maculopapular cutaneous mastocytosis, urticaria, and myeloproliferative disorder.
    [Show full text]
  • Dermatological Indications of Disease - Part II This Patient on Dialysis Is Showing: A
    “Cutaneous Manifestations of Disease” ACOI - Las Vegas FR Darrow, DO, MACOI Burrell College of Osteopathic Medicine This 56 year old man has a history of headaches, jaw claudication and recent onset of blindness in his left eye. Sed rate is 110. He has: A. Ergot poisoning. B. Cholesterol emboli. C. Temporal arteritis. D. Scleroderma. E. Mucormycosis. Varicella associated. GCA complex = Cranial arteritis; Aortic arch syndrome; Fever/wasting syndrome (FUO); Polymyalgia rheumatica. This patient missed his vaccine due at age: A. 45 B. 50 C. 55 D. 60 E. 65 He must see a (an): A. neurologist. B. opthalmologist. C. cardiologist. D. gastroenterologist. E. surgeon. Medscape This 60 y/o male patient would most likely have which of the following as a pathogen? A. Pseudomonas B. Group B streptococcus* C. Listeria D. Pneumococcus E. Staphylococcus epidermidis This skin condition, erysipelas, may rarely lead to septicemia, thrombophlebitis, septic arthritis, osteomyelitis, and endocarditis. Involves the lymphatics with scarring and chronic lymphedema. *more likely pyogenes/beta hemolytic Streptococcus This patient is susceptible to: A. psoriasis. B. rheumatic fever. C. vasculitis. D. Celiac disease E. membranoproliferative glomerulonephritis. Also susceptible to PSGN and scarlet fever and reactive arthritis. Culture if MRSA suspected. This patient has antithyroid antibodies. This is: • A. alopecia areata. • B. psoriasis. • C. tinea. • D. lichen planus. • E. syphilis. Search for Hashimoto’s or Addison’s or other B8, Q2, Q3, DRB1, DR3, DR4, DR8 diseases. This patient who works in the electronics industry presents with paresthesias, abdominal pain, fingernail changes, and the below findings. He may well have poisoning from : A. lead. B.
    [Show full text]
  • How to Deal with Skin Biopsy in an Infant with Blisters?
    Review How to Deal with Skin Biopsy in an Infant with Blisters? Stéphanie Leclerc-Mercier Reference Center for Genodermatoses (MAGEC Center), Department of Pathology, Necker-Enfants Malades Hospital, Paris Centre University, 75015 Paris, France; [email protected] Abstract: The onset of blisters in a neonate or an infant is often a source of great concern for both parents and physicians. A blistering rash can reveal a wide range of diseases with various backgrounds (infectious, genetic, autoimmune, drug-related, traumatic, etc.), so the challenge for the dermatologist and the pediatrician is to quickly determine the etiology, between benign causes and life-threatening disorders, for a better management of the patient. Clinical presentation can provide orientation for the diagnosis, but skin biopsy is often necessary in determining the cause of blister formations. In this article, we will provide information on the skin biopsy technique and discuss the clinical orientation in the case of a neonate or infant with a blistering eruption, with a focus on the histology for each etiology. Keywords: blistering eruption; infant; skin biopsy; genodermatosis; SSSS; hereditary epidermolysis bul- losa; keratinopathic ichthyosis; incontinentia pigmenti; mastocytosis; auto-immune blistering diseases 1. Introduction The onset of blisters in a neonate or an infant (<2 years old) is a source of great concern for both parents and physicians. Therefore, a precise diagnosis, between benign causes and Citation: Leclerc-Mercier, S. How to life-threatening disorders, is quickly needed for the best management of the baby. Deal with Skin Biopsy in an Infant Several diseases with various backgrounds (infectious, genetic, autoimmune, drug- with Blisters? Dermatopathology 2021, related, traumatic, etc.) can lead to a blistering eruption.
    [Show full text]
  • Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
    92 Pulkkinen, Ringpfeil, and Uitto JAM ACAD DERMATOL JULY 2002 Table I. Genodermatoses with known gene defects Reference Disease Mutated gene* Affected protein/function No.† Epidermal fragility disorders DEB COL7A1 Type VII collagen 6 Junctional EB LAMA3, LAMB3, ␣3, ␤3, and ␥2 chains of laminin 5, 6 LAMC2, COL17A1 type XVII collagen EB with pyloric atresia ITGA6, ITGB4 ␣6␤4 Integrin 6 EB with muscular dystrophy PLEC1 Plectin 6 EB simplex KRT5, KRT14 Keratins 5 and 14 46 Ectodermal dysplasia with skin fragility PKP1 Plakophilin 1 47 Hailey-Hailey disease ATP2C1 ATP-dependent calcium transporter 13 Keratinization disorders Epidermolytic hyperkeratosis KRT1, KRT10 Keratins 1 and 10 46 Ichthyosis hystrix KRT1 Keratin 1 48 Epidermolytic PPK KRT9 Keratin 9 46 Nonepidermolytic PPK KRT1, KRT16 Keratins 1 and 16 46 Ichthyosis bullosa of Siemens KRT2e Keratin 2e 46 Pachyonychia congenita, types 1 and 2 KRT6a, KRT6b, KRT16, Keratins 6a, 6b, 16, and 17 46 KRT17 White sponge naevus KRT4, KRT13 Keratins 4 and 13 46 X-linked recessive ichthyosis STS Steroid sulfatase 49 Lamellar ichthyosis TGM1 Transglutaminase 1 50 Mutilating keratoderma with ichthyosis LOR Loricrin 10 Vohwinkel’s syndrome GJB2 Connexin 26 12 PPK with deafness GJB2 Connexin 26 12 Erythrokeratodermia variabilis GJB3, GJB4 Connexins 31 and 30.3 12 Darier disease ATP2A2 ATP-dependent calcium 14 transporter Striate PPK DSP, DSG1 Desmoplakin, desmoglein 1 51, 52 Conradi-Hu¨nermann-Happle syndrome EBP Delta 8-delta 7 sterol isomerase 53 (emopamil binding protein) Mal de Meleda ARS SLURP-1
    [Show full text]
  • Adult-Onset Mastocytosis in the Skin Is Highly Suggestive of Systemic
    Modern Pathology (2014) 27, 19–29 & 2014 USCAP, Inc. All rights reserved 0893-3952/14 $32.00 19 Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis Sabina Berezowska1, Michael J Flaig2, Franziska Rue¨ff2, Christoph Walz1, Torsten Haferlach3, Manuela Krokowski4, Roswitha Kerler1, Karina Petat-Dutter1, Hans-Peter Horny3 and Karl Sotlar1 1Institute of Pathology, University of Munich, Munich, Germany; 2Department of Dermatology and Allergology, University of Munich, Munich, Germany; 3MLL Munich Leukemia Laboratory, Munich, Germany and 4Institute of Pathology, University of Schleswig Holstein, Lu¨beck, Germany Adult-onset urticaria pigmentosa/mastocytosis in the skin almost always persists throughout life. The prevalence of systemic mastocytosis in such patients is not precisely known. Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n ¼ 27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels 420 ng/ml (minor criteria). Systemic mastocytosis is diagnosed when the major diagnostic criterion plus one minor criterion or at least three minor criteria are fulfilled. Systemic mastocytosis was confirmed in 57 patients (97%) by the diagnosis of compact mast cell infiltrates plus at least one minor diagnostic criterion (n ¼ 42, 71%) or at least three minor diagnostic criteria (n ¼ 15, 25%). In two patients, only two minor diagnostic criteria were detectable, insufficient for the diagnosis of systemic mastocytosis. By the use of highly sensitive molecular methods, including the analysis of microdissected mast cells, KIT D816V was found in all 58 bone marrow biopsies investigated for it but only in 74% (20/27) of the skin biopsies.
    [Show full text]
  • Scabies Masquerading As Bullous Pemphigoid: Scabies Surrepticius
    Journal name: Clinical, Cosmetic and Investigational Dermatology Article Designation: CASE REPORT Year: 2017 Volume: 10 Clinical, Cosmetic and Investigational Dermatology Dovepress Running head verso: Cohen Running head recto: Scabies surrepticius open access to scientific and medical research DOI: http://dx.doi.org/10.2147/CCID.S145494 Open Access Full Text Article CASE REPORT Scabies masquerading as bullous pemphigoid: scabies surrepticius Philip R Cohen Abstract: Scabies, a parasitic infestation caused by the mite Sarcoptes scabiei, is diagnosed by observing either the mite, its ova, or its excrement. The mite tracts, known as burrows and a Department of Dermatology, University of California San characteristic presentation of the pruritic condition, are typically found on the web spaces between Diego, La Jolla, CA, USA the fingers. Other cutaneous lesions include excoriated papules, pustules, and vesicles. However, atypical clinical variants of scabies, such as bullous, crusted, hidden, incognito, nodular, and scalp forms of the parasitic infestation, mimic the morphologic features of other non-parasitic dermatoses. A 76-year-old man presented with pruritic blisters and urticarial plaques that dem- onstrated not only pathology changes, but direct immunofluorescence also showed findings of bullous pemphigoid. His condition improved, but did not resolve, with topical corticosteroid cream for the management of the primary autoimmune blistering disorder. When other fam- ily members subsequently developed scabies, the correct diagnosis for his condition, bullous scabies, was established by demonstrating mites, ova, and scybala on a mineral oil preparation from a skin scraping of a newly appearing burrow. Bullous scabies can masquerade not only clinically, but also both pathologically and immunologically as bullous pemphigoid.
    [Show full text]
  • Boards' Fodder
    boards’ fodder Sound-alikes in dermatology by Jeffrey Kushner, DO, and Kristen Whitney, DO Disease Entity Description Actinic granuloma/ Annular elastolytic Variant of granuloma annulare on sun-damaged skin; annular erythematous giant cell granuloma plaques with slightly atrophic center in sun-exposed areas, which may be precipi- tated by actinic damage. Actinic prurigo PMLE-like disease with photodistributed erythematous papules or nodules and hemorrhagic crust and excoriation. Conjunctivitis and cheilitis are commonly found. Seen more frequently in Native Americans (especially Mestizos). Actinomycetoma “Madura Foot”; suppurative infection due to Nocaria, Actinomadura, or Streptomyces resulting in tissue tumefaction, draining sinuses and extrusion of grains. Actinomycosis “Lumpy Jaw”; Actinomyces israelii; erythematous nodules at the angle of jaw leads to fistulous abscess that drain purulent material with yellow sulfur granules. Acrokeratosis verruciformis Multiple skin-colored, warty papules on the dorsal hands and feet. Often seen in conjunction with Darier disease. Acrodermatitis enteropathica AR; SLC39A4 mutation; eczematous patches on acral, perineal and periorificial skin; diarrhea and alopecia; secondary to zinc malabsorption. Atrophoderma 1) Atrophoderma vermiculatum: Pitted atrophic scars in a honeycomb pattern around follicles on the face; associated with Rombo, Nicolau-Balus, Tuzun and Braun-Falco-Marghescu syndromes. 2) Follicular atrophoderma: Icepick depressions at follicular orifices on dorsal hands/feet or cheeks; associated with Bazex-Dupré-Christol and Conradi- Hünermann-Happle syndromes. 3) Atrophoderma of Pasini and Pierini: Depressed patches on the back with a “cliff-drop” transition from normal skin. 4) Atrophoderma of Moulin: Similar to Pasini/Pierini, except lesions follow the lines of Blaschko. Anetoderma Localized area of flaccid skin due to decreased or absent elastic fibers; exhibits “buttonhole” sign.
    [Show full text]
  • Differential Diagnosis of Neonatal and Infantile Erythroderma
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE Acta Dermatovenerol Croat 2007;15(3):178-190 REVIEW Differential Diagnosis of Neonatal and Infantile Erythroderma Lena Kotrulja1, Slobodna Murat-Sušić2, Karmela Husar2 1University Department of Dermatology and Venereology, Sestre milosrdnice University Hospital; 2University Department of Dermatology and Venereology, Zagreb University Hospital Center and School of Medicine, Zagreb, Croatia Corresponding author: SUMMARY Neonatal and infantile erythroderma is a diagnostic and Lena Kotrulja, MD, MS therapeutic challenge. Numerous underlying causes have been reported. Etiologic diagnosis of erythroderma is frequently difficult to University Department of Dermatology establish, and is usually delayed, due to the poor specificity of clinical and Venereology and histopathologic signs. Differential diagnosis of erythroderma is Sestre milosrdnice University Hospital a multi-step procedure that involves clinical assessment, knowledge of any relevant family history and certain laboratory investigations. Vinogradska 29 Immunodeficiency must be inspected in cases of severe erythroderma HR-10000 Zagreb with alopecia, failure to thrive, infectious complications, or evocative Croatia histologic findings. The prognosis is poor with a high mortality rate [email protected] in immunodeficiency disorders and severe chronic diseases such as Netherton’s syndrome. Received: June 14, 2007 KEY WORDS: erythroderma, neonatal, infantile, generalized Accepted: July 11, 2007 exfoliative dermatitis INTRODUCTION Erythroderma is defined as an inflammatory Neonatal and infantile erythroderma is a diag- skin disorder affecting total or near total body sur- nostic and therapeutic challenge. Erythrodermic face with erythema and/or moderate to extensive neonates and infants are frequently misdiagnosed scaling (1). It is a reaction pattern of the skin that with eczema and inappropriate topical steroid can complicate many underlying skin conditions at treatment can lead to Cushing syndrome.
    [Show full text]