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How to Deal with Skin Biopsy in an Infant with Blisters?

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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. 8, 159–175. https://doi.org/10.3390/ Skin biopsy is often necessary in determining the cause of the blister formation. dermatopathology8020022 In the present article, only the most frequent etiologies specific to this age group will be described, with a special emphasis on histology in the clinical context (Table1). Academic Editor: Gürkan Kaya Table 1. Most frequent blistering disorders in neonates and infants. Received: 3 May 2021 Accepted: 1 June 2021 Staphylococcal scalded skin syndrome Published: 4 June 2021 Infections Impetigo Scabies Publisher’s Note: MDPI stays neutral Hereditary epidermolysis bullosa with regard to jurisdictional claims in Genodermatosis Keratinopathic ichthyosis published maps and institutional affil- Incontinentia pigmenti iations. Mastocytosis Cell proliferation Langerhans cell histiocytosis Autoimmune blistering diseases Bullous pemphigoid and others Drug reactions SJS, TEN, etc. Copyright: © 2021 by the author. Licensee MDPI, Basel, Switzerland. This article is an open access article Vesicular and pustular eruptions will not be discussed in this review. distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/). Dermatopathology 2021, 8, 159–175. https://doi.org/10.3390/dermatopathology8020022 https://www.mdpi.com/journal/dermatopathology DermatopathologyDermatopathology2021 2021, 8, 8, 1602 1.1.1.1. How How Can Can the the Clinical Clinical Context Context Provide Provide Information Information Concerning Concerning the the Etiology? Etiology? TheThe underlying underlying context context of of blistering blistering lesions lesions in in newborns newborns or infantsor infants will will sometimes sometimes be helpfulbe helpful to provide to provide a clinical a clinical orientation. orientation. Some Some elements elements important important to investigate to investigate are listed are belowlisted withbelow examples with examples of etiology: of etiology: -‐ distributiondistribution of of the the lesions: lesions: localized localized blisters blisters (traumatic/suction (traumatic/suction blister,blister, local local infection, infection, solitarysolitary mastocytosis, mastocytosis, etc.) etc.) -‐ generalgeneral symptoms:symptoms: fever,fever, systemicsystemic disordersdisorders (infection,(infection, toxictoxic epidermalepidermal necrosis,necrosis, metabolicmetabolic disorder, disorder, etc.) etc.) -‐ tensetense or or flaccid flaccid blister/erosion blister/erosion (giving(giving indicationsindications onon thethe levellevel ofof splitting)splitting) 1.2.1.2. What What Is Is the the Appropriate Appropriate Technique Technique for for Skin Skin Biopsy Biopsy in in This This Context? Context? EvenEven if if invasive, invasive, a a skin skin biopsy biopsy is is often often necessary necessary in in this this situation situation for for a a quick quick diagnosis diagnosis andand a a better better management management of of the the patient. patient. TheThe physician physician should should give give the the pathologist pathologist a a precise precise report report with with the the clinical clinical data, data, the the preciseprecise topography topography of of the the biopsy, biopsy, the the anesthetic anesthetic procedure, procedure, and and a a description description of of the the lesion lesion collected.collected. TheThe injectioninjection ofof anan anestheticanesthetic productproduct willwill bebe performed, performed, butbut an an anesthetic anesthetic creamcream containing containing lidocaine lidocaine prilocaineprilocaine shouldshould notnot be be applied applied prior prior to to the the biopsy biopsy since since it it cancan be be responsible responsible for for histopathologic histopathologic changes changes and and lead lead to to misdiagnosis, misdiagnosis, and and also also prevent prevent ultrastructuralultrastructural analysis analysis (vacuolization (vacuolization of of keratinocytes) keratinocytes) [ 1[1].]. AA skinskin biopsybiopsy will be taken taken for for routine routine examination, examination, and and another another will will be be frozen frozen for forimmunohistochemistry immunohistochemistry techniques techniques (split (split skin skin is not is usually not usually performed performed in this in acute this acute situa‐ situation).tion). A biopsy A biopsy for forelectron electron microscopy microscopy is isusually usually not not routinely routinely available butbut couldcould be be usefuluseful for for genodermatosis genodermatosis diagnosis. diagnosis. TheThe biopsy biopsy should should be be taken taken on on the the most most recent recent lesion lesion within within 24 24 h h (and (and within within 12 12 h h whenwhen possible): possible): • forfor routine routine histology, histology, it it must must be be performed performed between between the the normal normal skin skin and and the the edge edge of theof the blister blister so that so that the the epidermis epidermis does does not not detach detach as in as Figure in Figure1, fixed 1, fixed in formalin, in formalin, and processed routinely (paraffin embedded, haematoxylin and eosin (HE) staining) in and processed routinely (paraffin embedded, haematoxylin and eosin (HE) stain‐ order to determine the anatomic level of the blister ing) in order to determine the anatomic level of the blister • for immunohistochemistry, it will be frozen or can be put in Michel media for immunohistochemistry, it will be frozen or can be put in Michel media if an autoimmune blistering disease (AIBD) is suspected, the biopsy will be o if an autoimmune blistering disease (AIBD) is suspected, the biopsy will be # performed on healthy perilesional skin and processed for direct immunofluo- performed on healthy perilesional skin and processed for direct immunofluo‐ rescence (DIF) rescence (DIF) if a genodermatosis is suspected, the biopsy will also be taken between the o if a genodermatosis is suspected, the biopsy will also be taken between the nor‐ # normal skin and the edge of the blister and processed for immunomapping mal skin and the edge of the blister and processed for immunomapping with with specialized antibodies (DIF or immunoperoxidase) specialized antibodies (DIF or immunoperoxidase) FigureFigure 1. 1.Skin Skin biopsy biopsy for for EBH, EBH, between between normal normal skin skin and and the the edge edge of of the the blister. blister. Dermatopathology 2021, 8, 3 2. Etiologies 2.1. Infections Infections are the first cause of blistering eruption in neonates and infants. 2.1.1. Staphylococcal Scalded Skin Syndrome (SSSS) SSSS is an exfoliative, toxin‐mediated eruption caused by certain strains of Staphylo‐ coccus aureus producing an epidermolytic toxin (formerly named exfoliatin). The disease affects mostly neonates and children under 5 years of age but can also affect adults. In Dermatopathology 2021, 8 161 neonates, omphalitis is often the origin of the infection [2]. SSSS usually presents with prodromes (irritability, malaise, and fever) followed by a painful erythema, blistering with large areas of epidermal detachment, beginning on the face,2. Etiologies neck, axillae, and groin. SSSS is associated with a positive Nikolsky sign (Figure 2a). Mucosae2.1. Infections are not affected. TheInfections toxin in are SSSS the (and first causealso bullous of blistering impetigo) eruption causes in a neonates cleavage and in the infants. granular layer. Skin biopsy is not always performed except in case of toxic epidermal necrosis (TEN) suspicion.2.1.1. Staphylococcal Scalded Skin Syndrome (SSSS) SSSS is an exfoliative, toxin-mediated eruption caused by certain strains of Staphylo- 2.1.2.coccus Histology aureus producing an epidermolytic
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