New Insights in Pediatric Dermatopathology

A special issue of Dermatopathology (ISSN 2296-3529). This special issue belongs to the section "Pediatric Dermatopathology".

Deadline for manuscript submissions: closed (30 June 2021) | Viewed by 79883

Special Issue Editor

Department of Pathology, Necker Hospital for Sick Children, 75015 Paris, France
Interests: paediatrics; genodermatoses; pediatric inflammatory disorders; children cutaneous tumours; superficial paediatric soft tissue tumours; melanocytic proliferation in children

Special Issue Information

Dear Colleagues,

Paediatric Dermatology and Dermatopathology are expanding subspecialities that cover a wide range of disorders including genodermatoses, cutaneous and subcutaneous tumours and inflammatory disorders. Even though adults and children share a lot of skin diseases, some disorders are mostly observed in childhood, some of them even being specific to this age group. That is why dermatopathologists are more and more called upon to deal with skin biopsies in neonates, infants or children. The aim of this Special Issue is to cover some important fields in which knowledge has improved greatly in recent times, sometimes thanks to the development of new markers and molecular biology (i.e., melanocytic and histiocytic disorders), and sometimes just because young dermatologists are now less reluctant to perform a biopsy on a child. Moreover, clinicopathological correlations and multidisciplinary meetings have allowed the emergences of new classifications, such as in vascular anomalies or development anomalies. To cover this, we have asked top specialists to write review articles on important fields of paediatric dermatopathology. In addition, we thought it useful to add some practical articles on emergency situations such as “how to deal with a skin biopsy on an infant with bullous eruption” and “what to look out for in a neonate with multiple nodules” written by authors experienced in skin biopsies on small children.

Dr. Sylvie Fraitag
Guest Editor

Manuscript Submission Information

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Keywords

  • pediatric dermatopathology
  • pediatric vascular tumors
  • childhood melanoma
  • auto-inflammatory disorders
  • nodules
  • neonates
  • infants
  • bullous eruption in infancy
  • cysts
  • histiocytosis
  • keratinization disorders
  • auto-inflammatory diseases

Published Papers (12 papers)

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Editorial

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4 pages, 196 KiB  
Editorial
New Insights in Paediatric Dermatopathology
by Sylvie Fraitag
Dermatopathology 2021, 8(4), 531-534; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8040056 - 07 Dec 2021
Viewed by 2369
Abstract
Paediatric dermatology is an expanding subspeciality [...] Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)

Research

Jump to: Editorial, Review

28 pages, 66904 KiB  
Article
What to Look Out for in a Newborn with Multiple Papulonodular Skin Lesions at Birth
by Sylvie Fraitag and Olivia Boccara
Dermatopathology 2021, 8(3), 390-417; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8030043 - 17 Aug 2021
Cited by 4 | Viewed by 6745
Abstract
Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions’ clinical aspect (color and consistency, in particular) may steer the clinician towards one disorder or another (infantile myofibromatosis, xanthogranuloma, or metastatic neuroblastoma), the diagnosis [...] Read more.
Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions’ clinical aspect (color and consistency, in particular) may steer the clinician towards one disorder or another (infantile myofibromatosis, xanthogranuloma, or metastatic neuroblastoma), the diagnosis can only be confirmed by the histopathologic assessment of a biopsy. In neonates, a rapid but accurate diagnosis is critical because skin lesions may be the first manifestation of a malignant disorder like leukemia cutis or metastatic neuroblastoma. Here, we review the various disorders that may manifest themselves as multiple skin lesions at birth. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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Review

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17 pages, 10393 KiB  
Review
Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update
by Isabel Colmenero and Nicole Knöpfel
Dermatopathology 2021, 8(4), 477-493; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8040050 - 15 Oct 2021
Cited by 10 | Viewed by 7795
Abstract
Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular [...] Read more.
Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Specific entities include common VMs, cutaneo-mucosal VM, blue rubber bleb nevus syndrome or Bean syndrome, glomuvenous malformation, cerebral cavernous malformation, familial intraosseous vascular malformation and verrucous venous malformation. The clinicopathological features and the molecular basis of each entity are reviewed. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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14 pages, 6906 KiB  
Review
Pseudomalignancies in Children: Histological Clues, and Pitfalls to Be Avoided
by Sébastien Menzinger and Sylvie Fraitag
Dermatopathology 2021, 8(3), 376-389; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8030042 - 14 Aug 2021
Cited by 1 | Viewed by 3815
Abstract
The term “pseudomalignancy” covers a large, heterogenous group of diseases characterized by a benign cellular proliferation, hyperplasia, or infiltrate that resembles a true malignancy clinically or histologically. Here, we (i) provide a non-exhaustive review of several inflammatory skin diseases and benign skin proliferations [...] Read more.
The term “pseudomalignancy” covers a large, heterogenous group of diseases characterized by a benign cellular proliferation, hyperplasia, or infiltrate that resembles a true malignancy clinically or histologically. Here, we (i) provide a non-exhaustive review of several inflammatory skin diseases and benign skin proliferations that can mimic a malignant neoplasm in children, (ii) give pathologists some helpful clues to guide their diagnosis, and (iii) highlight pitfalls to be avoided. The observation of clinical–pathological correlations is often important in this situation and can sometimes be the only means (along with careful monitoring of the disease’s clinical course) of reaching a firm diagnosis. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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17 pages, 5447 KiB  
Review
Diagnostic Approach to Congenital Cystic Masses of the Neck from a Clinical and Pathological Perspective
by Amanda Fanous, Guillaume Morcrette, Monique Fabre, Vincent Couloigner and Louise Galmiche-Rolland
Dermatopathology 2021, 8(3), 342-358; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8030039 - 01 Aug 2021
Cited by 12 | Viewed by 8327
Abstract
Background: neck cysts are frequently encountered in pediatric medicine and can present a diagnostic dilemma for clinicians and pathologists. Several clinical items enable to subclassify neck cyst as age at presentation, anatomical location, including compartments and fascia of the neck, and radiological presentation. [...] Read more.
Background: neck cysts are frequently encountered in pediatric medicine and can present a diagnostic dilemma for clinicians and pathologists. Several clinical items enable to subclassify neck cyst as age at presentation, anatomical location, including compartments and fascia of the neck, and radiological presentation. Summary: this review will briefly describe the clinical, imaging, pathological and management features of (I) congenital and developmental pathologies, including thyroglossal duct cyst, branchial cleft cysts, dermoid cyst, thymic cyst, and ectopic thymus; (II) vascular malformations, including lymphangioma. Key Messages: pathologists should be familiar with the diagnostic features and clinicopathologic entities of these neck lesions in order to correctly diagnose them and to provide proper clinical management. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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22 pages, 4989 KiB  
Review
Panniculitis in Children
by Isabelle Moulonguet and Sylvie Fraitag
Dermatopathology 2021, 8(3), 315-336; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8030037 - 01 Aug 2021
Cited by 8 | Viewed by 7090
Abstract
Panniculitides form a heterogenous group of inflammatory diseases that involve the subcutaneous adipose tissue. These disorders are rare in children and have many aetiologies. As in adults, the panniculitis can be the primary process in a systemic disorder or a secondary process that [...] Read more.
Panniculitides form a heterogenous group of inflammatory diseases that involve the subcutaneous adipose tissue. These disorders are rare in children and have many aetiologies. As in adults, the panniculitis can be the primary process in a systemic disorder or a secondary process that results from infection, trauma or exposure to medication. Some types of panniculitis are seen more commonly or exclusively in children, and several new entities have been described in recent years. Most types of panniculitis have the same clinical presentation (regardless of the aetiology), with tender, erythematous subcutaneous nodules. Although the patient’s age and the lesion site provide information, a histopathological assessment is sometimes required for a definitive diagnosis and classification of the disorder. In children, most panniculitides are lobular. At present, autoimmune inflammatory diseases and primary immunodeficiencies have been better characterised; panniculitis can be the presenting symptom in some of these settings. Unexplained panniculitis in a young child should prompt a detailed screen for monogenic immune disorders because the latter usually manifest themselves early in life. Here, we review forms of panniculitis that occur primarily in children, with a focus on newly described entities. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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14 pages, 5599 KiB  
Review
Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities
by Arnaud de la Fouchardière, Felix Boivin, Heather C. Etchevers and Nicolas Macagno
Dermatopathology 2021, 8(3), 301-314; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8030036 - 01 Aug 2021
Cited by 2 | Viewed by 2883
Abstract
Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the size of the nevus. The most frequent type is lateral transformation, extremely rare before [...] Read more.
Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the size of the nevus. The most frequent type is lateral transformation, extremely rare before puberty, reminiscent of a superficial spreading melanoma (SSM) ex-nevus. Deep nodular transformation is much rarer, can occur before puberty, and must be distinguished from benign proliferative nodules. Superficial spreading melanoma can also arise within small nevi, which were not visible at birth, usually after puberty, and can reveal a cancer predisposition syndrome (CDKN2A or CDK4 germline mutations). Prognosis is correlated with classical histoprognostic features (mainly Breslow thickness). Spitz tumors are frequent in adolescents and encompass benign (Spitz nevus), intermediate (atypical Spitz tumor), and malignant forms (malignant Spitz tumor). The whole spectrum is characterized by specific morphology with spindled and epithelioid cells, genetic features, and an overall favorable outcome even if a regional lymph node is involved. Nevoid melanomas are rare and difficult to diagnose clinically and histologically. They can arise in late adolescence. Their prognosis is currently not very well ascertained. A small group of melanomas remains unclassified after histological and molecular assessment. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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16 pages, 152907 KiB  
Review
Update on Superficial Spindle Cell Mesenchymal Tumors in Children
by Philippe Drabent and Sylvie Fraitag
Dermatopathology 2021, 8(3), 285-300; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8030035 - 21 Jul 2021
Cited by 4 | Viewed by 7274
Abstract
The diagnosis of cutaneous and subcutaneous spindle cell neoplasms in children is often challenging and has potential therapeutic and prognostic implications. Although correctly diagnosing dermatofibrosarcoma protuberans and infantile fibrosarcoma is paramount, pathologists should not ignore a number of diagnostic pitfalls linked to mostly [...] Read more.
The diagnosis of cutaneous and subcutaneous spindle cell neoplasms in children is often challenging and has potential therapeutic and prognostic implications. Although correctly diagnosing dermatofibrosarcoma protuberans and infantile fibrosarcoma is paramount, pathologists should not ignore a number of diagnostic pitfalls linked to mostly rare tumors with completely different clinical outcomes. In the last decade, a spectrum of novel entities has been described; information from molecular biology has helped to shape this new landscape for spindle cell tumors. Here, we review the most noteworthy neoplasms in this spectrum, with a focus on their histological similarities: fibroblastic connective tissue nevus, medallion-like dermal dendrocyte hamartoma, or plaque-like CD34-positive dermal fibroma, which share features with fibrous hamartoma of infancy; lipofibromatosis and lipofibromatosis-like neural tumor; and plexiform myofibroblastoma, a recently described neoplasm that should be distinguished from plexiform fibrohistiocytic tumor. These tumors also have genetic similarities, particularly gene rearrangements involving NTRK3 or NTRK1. These genetic features are not only essential for the differential diagnosis of infantile fibrosarcoma but are also of diagnostic value for lipofibromatosis-like neural tumors. The more recently described RET, RAF1, and BRAF gene fusions are also discussed. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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17 pages, 10399 KiB  
Review
Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama
by Marine Cascarino and Stéphanie Leclerc-Mercier
Dermatopathology 2021, 8(3), 236-252; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8030029 - 04 Jul 2021
Cited by 7 | Viewed by 9039
Abstract
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disease characterized by cutaneous and extracutaneous hamartomas. The diagnosis is based on the association of major and minor criteria, defined by a consensus conference updated in 2012. The clinical examination of the skin is crucial [...] Read more.
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disease characterized by cutaneous and extracutaneous hamartomas. The diagnosis is based on the association of major and minor criteria, defined by a consensus conference updated in 2012. The clinical examination of the skin is crucial because seven diagnostic criteria are dermatological: four major (hypomelanotic macules, angiofibroma or fibrous cephalic plaques, ungual fibromas, shagreen patches) and three minor criteria (confetti skin lesions, dental enamel pits, intraoral fibromas). Skin biopsy is commonly performed to assert the diagnosis of TSC when the clinical aspect is atypical. Histopathology of TSC cutaneous lesions have been poorly reported until now. In this article, we review the histologic features described in the literature and share our experience of TSC skin biopsies in our pediatric hospital specialized in genetic disorders. Both hypomelanotic lesions and cutaneous hamartomas (angiofibroma/fibrous cephalic plaques, ungual fibromas, shagreen patches) are discussed, including the recent entity called folliculocystic and collagen hamartoma, with a special emphasis on helpful clues for TSC in such lesions. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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19 pages, 44108 KiB  
Review
Histologic Patterns and Clues to Autoinflammatory Diseases in Children: What a Cutaneous Biopsy Can Tell Us
by Athanassios Kolivras, Isabelle Meiers, Ursula Sass and Curtis T. Thompson
Dermatopathology 2021, 8(2), 202-220; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8020026 - 08 Jun 2021
Cited by 5 | Viewed by 5524
Abstract
Autoinflammation is defined by aberrant, antigen-independent activation of the innate immune signaling pathways. This leads to increased, pro-inflammatory cytokine expression and subsequent inflammation. In contrast, autoimmune and allergic diseases are antigen-directed immune responses from activation of the adaptive immune system. The innate and [...] Read more.
Autoinflammation is defined by aberrant, antigen-independent activation of the innate immune signaling pathways. This leads to increased, pro-inflammatory cytokine expression and subsequent inflammation. In contrast, autoimmune and allergic diseases are antigen-directed immune responses from activation of the adaptive immune system. The innate and adaptive immune signaling pathways are closely interconnected. The group of ‘complex multigenic diseases’ are a result of mutual dysregulation of both the autoinflammatory and autoimmune physiologic components. In contrast, monogenic autoinflammatory syndromes (MAIS) result from single mutations and are exclusively autoinflammatory in their pathogenesis. Studying the clinical and histopathological findings for the various MAIS explains the phenotypical correlates of their specific mutations. This review aims to group the histopathologic clues for autoinflammation into three recognizable patterns. The presence of these histologic patterns in a pediatric patient with recurrent fevers and systemic inflammation should raise suspicion of an autoinflammatory component in MAIS, or, more frequently, in a complex multigenic disease. The three major histopathological patterns seen in autoinflammation are as follows: (i) the ‘neutrophilic’ pattern, seen in urticarial neutrophilic dermatosis, pustular psoriasis, aseptic neutrophilic folliculitis, and Sweet’s syndrome; (ii) the ‘vasculitic’ pattern seen in small vessel-vasculitis (including hypersensitivity/leukocytoclastic vasculitis, thrombosing microangiopathy and lymphocytic vasculitis), and intermediate-sized vessel vasculitis, mimicking polyarteritis nodosa; and (iii) the ‘granulomatous’ pattern. Beyond these three patterns, there are additional histopathologic clues, which are detailed below. It is important for a dermatopathologist to recognize the patterns of autoinflammation, so that a diagnosis of MAIS or complex multigenic diseases may be obtained. Finally, careful histopathologic analyses could contribute to a better understanding of the various clinical manifestations of autoinflammation. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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17 pages, 13623 KiB  
Review
How to Deal with Skin Biopsy in an Infant with Blisters?
by Stéphanie Leclerc-Mercier
Dermatopathology 2021, 8(2), 159-175; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8020022 - 04 Jun 2021
Cited by 1 | Viewed by 4468
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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17 pages, 7120 KiB  
Review
Ichthyoses—A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation
by Dieter Metze, Heiko Traupe and Kira Süßmuth
Dermatopathology 2021, 8(2), 107-123; https://0-doi-org.brum.beds.ac.uk/10.3390/dermatopathology8020017 - 07 May 2021
Cited by 9 | Viewed by 12592
Abstract
Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening. The identification of the gene defects resulted in reclassification and a better understanding of the pathophysiology. Histopathologic patterns [...] Read more.
Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening. The identification of the gene defects resulted in reclassification and a better understanding of the pathophysiology. Histopathologic patterns include orthohyperkeratosis with a reduced or well-developed stratum granulosum, hyperkeratosis with ortho- and parakeratosis with preserved or prominent stratum granulosum, and epidermolytic ichthyosis. Another pattern features “perinuclear vacuoles and binucleated keratinocytes”, which is associated with keratin mutations. Some ichthyoses are histologically defined by psoriasis-like features, and distinct subtypes show follicular hyperkeratosis. In addition to histological and immunohistochemical methods, these patterns allow a better histopathologic diagnosis. Full article
(This article belongs to the Special Issue New Insights in Pediatric Dermatopathology)
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