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Pediatric and Developmental Pathology

Louis P Dehner, Alejandro A Gru
This overview of mesenchymal tumors presenting in the skin and/or subcutis in children brings together the range of neoplasms and hamartomas which are seen in this age-group. It is not surprising from the perspective of the pediatric or general surgical pathologist that vascular anomalies, including true neoplasms and vascular malformations, are the common phenotypic category. Since there is considerable morphologic overlap among these lesions, clinicopathologic correlation may be more important than for many of the other mesenchymal tumors...
March 2018: Pediatric and Developmental Pathology
Alejandro A Gru, Louis P Dehner
This article focuses on cutaneous hematopoietic neoplasms that are more likely to be encountered in the pediatric age-group and includes both lymphoproliferative and histiocytic disorders. The cutaneous hematologic disorders in children have a different epidemiologic profile to what is seen during adulthood. Although mycosis fungoides is the most frequent form of cutaneous lymphoma in adults, it is very rare in children. Because lymphoblastic leukemias and lymphomas are more frequent in the pediatric setting, cutaneous leukemic infiltrates are relatively common in this age-group...
March 2018: Pediatric and Developmental Pathology
Chen Yang, Alejandro A Gru, Louis P Dehner
The acquired melanocytic nevus is the most common lesion encountered by pediatric pathologists and dermatopathologists in their daily practice. In most cases, there are few difficulties in histopathologic diagnosis. However, it is the acquired melanocytic lesion known as the Spitz nevus, with its intrinsic atypical features which becomes the challenge since it exists along a histopathologic and biologic continuum from the atypical Spitz tumor to spitzoid melanoma. The frustration with some of these spitzoid lesions is that even the "experts" cannot agree as to the differentiation of one from the other even at the level of molecular genetics...
March 2018: Pediatric and Developmental Pathology
Miguel Reyes-Múgica, Pauline M Chou
No abstract text is available yet for this article.
March 2018: Pediatric and Developmental Pathology
Andy C Hsi, Ilana S Rosman
Inflammatory dermatoses encompass a variety of histologic patterns that affect different portions of the skin. In spongiotic, psoriasiform, lichenoid, pityriasiform, and blistering disorders, there are predominately epidermal and junctional activities with variable superficial dermal inflammation. Hypersensitivity reactions can show either epidermal or mostly dermal changes depending on whether the exposure of the exogenous allergen occurs through an external or internal route, respectively. Exceptions include erythema multiforme and Stevens-Johnson syndrome/toxic epidermal necrolysis, where the etiology is often due to infection or ingested medications, but the histologic features are almost exclusively confined to the epidermis and dermoepidermal junction...
March 2018: Pediatric and Developmental Pathology
Karen M Chisholm, Mary E Norton, Anna A Penn, Amy Heerema-McKenney
Premature birth lacks a widely accepted classification that unites features of the clinical presentation with placental pathology. To further explore associations between the clinical categories of preterm birth and placental histology, 109 infants with gestational age <34 weeks and birth weight <2000 g were selected and, based on electronic records, were classified into preterm birth categories of preterm labor, prelabor premature rupture of membranes, preeclampsia, indicated preterm birth for maternal factors (other than preeclampsia), indicated preterm birth for fetal factors, and the clinical diagnosis of abruption...
January 1, 2018: Pediatric and Developmental Pathology
Fiona M Bright, Robert Vink, Roger W Byard
A wide variety of neuropathological abnormalities have been investigated in infants who have died of sudden infant death syndrome (SIDS). Issues which detracted from early studies included failure to use uniform definitions of SIDS and lack of appropriately matched control populations. Development of the triple risk model focused attention on the concept of an inherent susceptibility to unexpected death in certain infants, with research demonstrating a role for the neurotransmitter serotonin within the brainstem...
January 1, 2018: Pediatric and Developmental Pathology
Gabrielle K Steinl, Jocelyn S Gandelman, Philip J Katzman, Yuan Ru, Ronnie Guillet, Eva Pressman, Elizabeth M Cooper, Kimberly O O'Brien
Abnormal umbilical cord coiling has been associated with adverse neonatal outcomes, but the etiology of these findings remains poorly characterized. This study was undertaken to examine associations between cord coiling and maternal iron (Fe) status and to identify potential determinants of hypo- and hypercoiling in 2 higher risk obstetric groups: pregnant adolescents (≤18 years, n = 92) and adult women carrying twins (n = 49), triplets (n = 11), or quadruplets (n = 1). Umbilical cords were classified as hypo-, normo-, or hypercoiled using digital photographs to assess gross appearance...
January 1, 2018: Pediatric and Developmental Pathology
Monique E De Paepe, Lawrence Young, Julie R Jones, Umadevi Tantravahi
Simpson-Golabi-Behmel syndrome type I (SGBS, OMIM312870), caused by defects of the GPC3 and GPC4 genes on chromosome Xq26, is an X-linked recessive macrosomia/multiple congenital anomaly disorder characterized by somatic overgrowth, coarse facial features, variable congenital anomalies, increased tumor risk, and mild-to-moderate neurodevelopmental anomalies. We report the postmortem findings in 3 second-trimester male siblings with SGBS who displayed ambiguous genitalia (in all 3) and gonadal dysgenesis (ovotestis) (in 1), thus expanding the SGBS spectrum to include these disorders of sex development...
January 1, 2018: Pediatric and Developmental Pathology
Jeanette A Reyes, Gino R Somers, David A Chiasson
Clinico-pathological studies that focus on sudden unexpected death (SUD) in the neonatal period are rare. The objective of this study was to elucidate the frequency and pathological spectrum of anatomical causes of death (CODs), found in the setting of sudden unexpected death in neonates (SUD-N), and to correlate the COD with premortem circumstantial information. We conducted a detailed review of all autopsy reports on SUD-N cases at our institution from 1997 to 2015. Analyzed clinical data included obstetrical history, postpartum/neonatal medical course, and circumstances surrounding death...
January 1, 2018: Pediatric and Developmental Pathology
Amish Chinoy, Indraneel Banerjee, Sarah E Flanagan, Sian Ellard, Bing Han, Zainab Mohamed, Mark J Dunne, Stefania Bitetti
Congenital hyperinsulinism (CHI) is the commonest cause of persistent and severe hypoglycemia in infancy due to unregulated insulin secretion from pancreatic β-cells. Prompt early diagnosis is important, as insulin reduces glucose supply to the brain, resulting in significant brain injury and risk of death. Histologically, CHI has focal and diffuse forms; in focal CHI, an inappropriate level of insulin is secreted from localized β-cell hyperplasia. We report a 4-month-old male infant, who presented with sudden illness and collapse without a recognized cause and died...
January 1, 2018: Pediatric and Developmental Pathology
Steve Taylor, Kimberly Eisenstein, Vanessa Gildenstern, Harper Price, Pooja Hingorani, Apurvi Patel, Nathan Page, Smita Bailey, David Carpentieri
Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon...
January 1, 2018: Pediatric and Developmental Pathology
M Cristina Pacheco, Eric J Monroe, Simon P Horslen
Alagille syndrome is associated with decreased bile ducts, cardiac abnormalities, vertebral body fusion defects, and a typical facies. While regenerative nodules and hepatocellular carcinoma have been described in these patients, hepatic adenoma has not. Herein, we present a patient with Alagille syndrome caused by a mutation in NOTCH2 with a hepatic adenoma. The clinical, imaging, and histologic features are discussed.
January 1, 2018: Pediatric and Developmental Pathology
R Beverly Raney, Carola As Arndt, David M Parham
No abstract text is available yet for this article.
January 1, 2018: Pediatric and Developmental Pathology
Gordon I Hale, Marta C Cohen, Oliver W Quarrell, John A McGrath, Andrew G Messenger
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants...
January 1, 2018: Pediatric and Developmental Pathology
Virginia E Duncan, Jason A Wicker, David R Kelly, Rong Li
Malignant rhabdoid tumors (MRT; atypical teratoid/rhabdoid tumor [ATRT] in the central nervous system) are aggressive tumors in infants and children which can overlap with other sarcomas, such as synovial sarcoma (SS). The gold standard for SS diagnosis is characterization of the t(X;18) chromosomal translocation. However, stratification of cases for molecular analysis is not always straightforward or feasible. Recent literature suggests transducer-like enhancer of split 1 (TLE1) protein expression may distinguish SS from certain histologic mimics; however, this has not been investigated in MRT and ATRT...
January 1, 2018: Pediatric and Developmental Pathology
Mercedes Olaya-C, Fabian Gil, Juan D Salcedo, Ana J Salazar, Jaime L Silva, Jaime E Bernal
Introduction Umbilical cord (UC) abnormalities and their clinical relations in 434 newborns were analyzed. We had previously reported on clinical associations of long and short UCs with any kind of malformation. This study focuses on other UC features (insertion, vessels, entanglements, coiling, and knots) and their associations with clinical characteristics and neonatal prognosis. Methods An observational analytic study was performed on placentas from consecutive deliveries. Ordered logistic regression with bivariate and multivariate analysis was performed to evaluate the relationship between variables of interest concerning UC abnormalities...
January 1, 2018: Pediatric and Developmental Pathology
Ryosuke Matsuno, Andrew J Gifford, Junming Fang, Mikako Warren, Robyn E Lukeis, Toby Trahair, Tohru Sugimoto, Araz Marachelian, Shahab Asgharzadeh, John M Maris, Naohiko Ikegaki, Hiroyuki Shimada
Background Although MYCN (aka N-myc) amplification is reported in ∼20% of neuroblastomas, MYC (aka C-myc) amplification appears to be a rare event in this disease. As of today, only 2 MYC-amplified neuroblastomas have been briefly mentioned in the literature. Methods We studied here the clinicopathological features of 3 MYC-amplified neuroblastomas. Results All 3 patients (2 females and 1 male) had stage 4 disease. One female is currently alive and well 52 months after the diagnosis, while the other female and male patients died of disease 24 and 20 months after the diagnosis, respectively...
January 1, 2018: Pediatric and Developmental Pathology
Yingting Mok, Yin Huei Pang, Jain Sudhanshi Sanjeev, Chik Hong Kuick, Kenneth Tou-En Chang
Low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma (SEF) are rare tumors with distinct sets of morphological features, both characterized by MUC4 immunoreactivity. Tumors exhibiting features of both entities are considered hybrid LGFMS-SEF lesions. While the majority of LGFMS cases are characterized by FUS-CREB3L2 gene fusions, most cases of pure SEF show EWSR1 gene rearrangements. In the largest study of hybrid LGFMS-SEF tumors to date, all cases exhibited FUS rearrangements, a similar genetic profile to LGFMS...
January 1, 2018: Pediatric and Developmental Pathology
Elisa Ferro, Anna Paola Capra, Giuseppina Zirilli, Alessandro Meduri, Mario Urso, Silvana Briuglia, Maria Angela La Rosa
We describe a new Italian family with 7 members affected by hereditary hyperferritinemia cataract syndrome (HHCS), an uncommon autosomal dominant disease caused by mutations of the iron-responsive element (IRE) of the ferritin light chain (FTL) gene determining its overexpression. The family diagnosis of HHCS took place after finding high ferritin levels in a 6-year-old girl. Seven members of the family had bilateral and symmetrical cataracts, normal iron, and hematological parameters except for high serum ferritin levels...
January 1, 2018: Pediatric and Developmental Pathology
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