Literature review of pediatric Erdheim-Chester disease (ECD) and mixed histiocytosis (Langerhans cell histiocytosis/ECD)
Review Article | Data-Driven Clinical Practice and Policy Making

Literature review of pediatric Erdheim-Chester disease (ECD) and mixed histiocytosis (Langerhans cell histiocytosis/ECD)

Shinsaku Imashuku ORCID logo

Department of Laboratory Medicine, Uji-Tokushukai Medical Center, Kyoto, Japan

Correspondence to: Shinsaku Imashuku, MD, PhD. Department of Laboratory Medicine, Uji-Tokushukai Medical Center, 145 Ishibashi, Makishima-cho, Uji, Kyoto 611-0041, Japan. Email: shinim95@mbox.kyoto-inet.or.jp.

Background and Objective: Langerhans cell histiocytosis (LCH) and Rosai-Dorfman disease (RDD) are more commonly observed in childhood; however, Erdheim-Chester disease (ECD) predominantly affects adults, making pediatric ECD extremely rare. To find out the incidence and characteristics of ECD in children, a review article was prepared.

Methods: A literature review was conducted to estimate the incidence of pediatric ECD and characterize its clinical features, using PubMed and Crossref, during 1990 to June 2026, with searched terms “Childhood or Pediatric”, “Erdheim-Chester disease”, “Mixed histiocytosis”.

Key Content and Findings: A total of 28 pediatric ECD cases were collected, which compared with previously reported pediatric ECD case series (Pegoraro et al., n=21; Romano et al., n=16). Based on these reports, it was estimated that more than 30 pediatric ECD cases have been described to date. Pediatric ECD appears to be characterized by relatively high rates of central nervous system involvement (53–67%) and mixed histiocytosis (20–38%). In addition, ophthalmologic involvements in the Yeager et al.’s study in 45% (adult 30%) of pediatric ECD should be recognized as an important manifestation in the eyes even in children. Regarding prognosis, most pediatric patients with ECD were reported as alive with disease (AWD) at the time of publication, suggesting a more favorable outcome than that observed in adult cases.

Conclusions: Diagnosing ECD in children remains challenging; however, this rare entity should be considered in the differential diagnosis of pediatric histiocytosis, particularly in cases with central nervous system and ophthalmologic involvement.

Keywords: Children; Erdheim-Chester disease (ECD); mixed histiocytosis; central nervous system (CNS); ophthalmologic involvement

Submitted Apr 25, 2026. Accepted for publication Jul 15, 2026. Published online Aug 21, 2026.

doi: 10.21037/atm-2026-0093

Introduction

Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD)

Histiocytoses consist of LCH and non-LCH diseases. Currently, they are classified into five subtypes; L-group consists of LCH, ECD, and mixed histiocytosis (LCH/ECD), C-group of cutaneous non-LCH such as juvenile xanthogranuloma (JXG), R-group of Rosai Dorfman disease (RDD), and other H and M groups (1).

Among them, LCH and ECD are the most common types of histiocytosis, which are currently recognized as inflammatory myeloid neoplasia (2,3). Pathologically, LCH lesion consists of characteristic CD1a+, CD207+ LCH cells (1,4). Two-thirds of entire LCH occur in pediatric population while one third in adults. In pediatric LCH, frequently affected organs are the bones (80%), skin (33%), central nervous system (CNS) (up to 30% including pituitary stalk thickening), liver, spleen, hematopoietic system or lungs, lymph nodes, etc., while in adults, lung involvement is more frequent than in children (1).

ECD occurs mostly in adults and rarely in children (1,5-8). In 2020, Haroche et al. reported 1,500 known cases of ECD, mostly in adults (7). In ECD, clinical presentation includes bones (95%)—especially bilateral and symmetric cortical osteosclerosis of the diaphyseal and metaphyseal regions of long bones, cardiovascular disease (50%) like “coated” aorta, CNS [30–40%, including central diabetes insipidus (CDI) and other neurological symptoms], retroperitoneal fibrosis (30%) including “hairly” kidneys, etc., and often causing multisystem and life-threatening disease (1). In children, the clinical features of ECD are thought not to fully fulfill the diagnostic criteria established for adults (9,10). ECD occurs in the eyes, as ophthalmologic findings in 45% of pediatric ECD cases (11). Orbital ECD disease includes bilateral exophthalmos, ophthalmoplegia, optic neuropathy and decreased vision. As other eye findings, palpebral xanthelasmas are noted as the most common cutaneous findings. Pathologically, the tumor tissue consisted of densely packed lipid-laden foamy macrophages with CD68+ foamy histiocytes, multinuclear Touton cells, and CD1a− cells (1,2,5-8). Among the xanthogranuloma family, cutaneous JXG is classified within the C-group, whereas extracutaneous or systemic JXG lesions, as well as adult xanthogranuloma (AXG), are categorized as ECD within the L-group according to Emile et al. (1). These entities share overlapping pathological features as ECD (1,12,13).

Genetically, in LCH and ECD, BRAFV600E mutations were detected in the LCH (60%) and ECD (50%) tissues (6). In both diseases, BRAFV600 wild-type cases and MAP2K1 and other mutations are also responsible. It is emphasized that LCH, ECD as well as systemic JXG/AXG are preferentially managed with targeted therapy (13).

Mixed histiocytosis (LCH/ECD)

Mixed histiocytosis of LCH/ECD refers to a condition in which a single patient presents with LCH lesions at one site and ECD lesions at another site, or in which a single lesion contains both LCH and ECD components. Also, ECD development after LCH treatment in a patient could belong to this entity. Among various mixed histiocytosis, the analysis by Friedman et al. found that LCH/ECD (n=19) was most common (14). Pegoraro et al. reported that out of a cohort of ECD adult patients, 69/493 (14%) had mixed LCH/ECD (15). On the other hand, pediatric mixed histiocytosis (LCH/ECD) is rare; however, its incidence among ECD in childhood was higher than in adults (20–38%) (9,16,17). Bonometti et al. classified mixed histiocytosis into 3 groups: Type-1 (n=34), Type-2 (n=19), and Type-3 (n=19). Adult LCH/ECD could belong to Type-1 while pediatric LCH/ECD to Type-2 (18).

CNS involvement in histiocytoses

CNS (intracranial or spinal) involvement in patients with subtypes of histiocytosis is well recognized (19). CNS involvements (CDI, cerebellar ataxia, panhypopituitarism) need to be considered in histiocytosis especially in LCH and ECD (19). Picarsic et al. reviewed 22 CNS-JXG lesions and proposed a revised diagnostic algorithm for pediatric CNS-JXG with BRAF mutation, as pediatric ECD (12). Histiocytoses-related CNS manifestations must be differentiated among LCH, ECD and RDD.

Objective of the study

To find out the incidence of ECD and characteristics in children, literature survey and analysis of pediatric ECD were performed.

Methodological approach

This narrative review aimed to provide published systemic reviews of ECD and mixed histiocytosis (LCH/ECD) in children with particular emphasis on the incidence and characteristics in pediatric ECD. This article is presented in accordance with the Narrative Review reporting checklist (available at https://atm.amegroups.com/article/view/10.21037/atm-2026-0093/rc).

Methods

Search strategy

A structured literature search was conducted using PubMed and Crossref, during 1990 to June 2026, with searched terms “Childhood or Pediatric”, “Erdheim-Chester disease”, and “Mixed histiocytosis”. Eligible studies included were case reports and case studies. Some publications were excluded because details of information were not available. Summary of the search strategy, including databases, search items, and selection criteria is shown in Table 1.

Table 1

The search strategy

Summary items Specification
Date of search Initial search: 01 February 2026; final update: 22 June 2026
Databases searched PubMed and Crossref
Search items used “Childhood or Pediatric”, “Erdheim-Chester disease”, and “Mixed histiocytosis”
Timeframe During 1990 to June 2026
Inclusion/exclusion criteria Case reports and case series were analyzed. Those without sufficient information for analysis were excluded
Selection process Based on a literature review, published cases were evaluated according to age, sex, clinical features, and histopathological findings to determine whether they met the diagnostic criteria for ECD or mixed histiocytosis (LCH/ECD). The reviewers’ concerns regarding the credibility of the diagnosis of ECD in some case reports have been addressed in the “Limitations” section of this review

ECD, Erdheim-Chester disease; LCH, Langerhans cell histiocytosis.

Results

Twenty-one pediatric ECD cases and seven cases of pediatric mixed histiocytosis (LCH/ECD) were described mostly as case report/series (9) (Tables 2,3). Thus, a total of 28 cases of pediatric ECD were collected with age (median; range) of 10 years (6 months to 17 years), male/female (M/F) ratio of 15/13, mixed histiocytosis (7/28; 25%) and CNS disease (17/28; 61%). It was also confirmed that 9/28 (32%) cases had ophthalmologic involvement, which was noted in 6 (35%) of 17 CNS-ECD cases. In pediatric ECD cases, genetic study was done in 7/21 cases, with BRAF mutation-positive (n=5), BRAF mutation-negative (n=2) and not available (n=14). Among 7 mixed histiocytosis cases, all cases were BRAF mutation-positive.

Table 2

Pediatric ECD

References Year Case (years/sex) symptoms BRAF mutation Treatment Follow-up Outcome
Globerman (20)† 1991 7/M Multisystem (short stature, neck mass, skull and long bones, retroperitoneum), CNS (CDI) NA DDAVP 2.5 years AWD
Clerico (21) 2003 14/F CNS (multiple masses at the thalamus, parietal cortex), long bones NA Chemo/somatostatin NA PR, AWD
Joo (22) 2005 10 /F Long bones (LE) NA Cs 8 months PR, AWD
Nagatsuka (23) 2005 13/F Mandibular and maxillary bones, symmetric long bones, CNS/abdomen NA NA NA NA
Sohn (24) 2006 10/F Long bones (UE & LE), facial bones NA NA NA NA
Kumandas (25) 2007 10/M CNS (pituitary/cerebellum with CDI/ataxia, dura lesion), long bone NA Cs NA NA
Tran (26) 2009 10/F Long bones (LE) NA IFN-α 5 years PR, AWD
Jeon (27) 2010 17/F Pelvic bones and other bones (whole body) NA Chemo, IFN-α 2 years CR
Song (28) 2012 4/M Long bones (LE)/CNS (a mass in cerebellopontine angle), optic nerve atrophy NA Chemo, IFN-α 3 months PR, AWD
Krishna (29)† 2014 14/F Skull lesions, CNS meningeal lesions NA IFN-α 1 year PR, AWD
Alimohama (30) 2015 14/M CNS (schwannoma-like), long bones (UE or LE)//diplopia NA Surgery/chemo 8 years PR, AWD
Diamond (31) 2016 7/M CNS (dural-based tumors, sellar/suprasellar lesions), long bones Pos Surgery/chemo anakinra 2 years PR, AWD
Vallon (32)† 2016 6/F Long bones (UE)/pelvic bones, with ALL No Anti-inflammatory drugs NA PR, AWD
White (33) 2016 14/M CNS (CDI, hypothalamic lesion, cerebellum)/long bone (LE)/mass involving the optic chiasm NA Cs, chemo, anakinra 6 months PR, AWD
Su (34) 2018 3.5/M Skin/bones (UE & LE), eyelid lumps (xanthelasma) Neg IFN-α-2a NA PR, AWD
Tezol (35) 2020 13/F Multisystem (pleural, pericardical, hairy kidneys), eyelid lumps (xanthelasma) Neg High-dose IFN-α 6 months PR, AWD
Gupta (36) 2021 11/F Long bones (LE/pelvic/ribs) NA LCH-III >24 months CR, NED
Salazer (37) 2019 12/F CNS/long bones (LE)/abdomen Pos Dabrafenib NA NA
Yeager (11) 2023 3/M Bilateral exophthalmos, CNS, soft tissue Pos Cs/MTX, Dab/Tra >12 months PR, AWD
Li (16) 2024 7/M Bones of skull and face Pos Surgery NA PR, AWD
Zhong (38) 2026 6/M Chorioretinal mass and CNS disease Pos Surgery; chemo NA PR, AWD

†, with B-ALL. ALL, acute lymphoblastic leukemia; AWD, alive with disease; B-ALL, B-cell acute lymphoblastic leukemia; CDI, central diabetes insipidus; chemo, chemotherapy; CNS, central nervous system; CR, complete remission; Cs, corticosteroids; Dab/Tra, dabrafenib/trametinib; DDAVP, 1-deamino-8-D-arginine vasopressin; ECD, Erdheim-Chester disease; F, female; IFN, interferon; LCH-III, prednisolone/vinblastine/6-MP; LE, lower extremity; M, male; MTX, methotrexate; NA, not available; NED, no evidence of disease; Neg, negative; Pos, positive; PR, partial remission; UE, upper extremity.

Table 3

Pediatric mixed histiocytosis (LCH/ECD)

References Year Age (years)/gender Symptoms BRAF mutation Treatment Follow-up Outcome
Kim (39) 2017 3/M Mixed (bones including LE/CNS) after 2 months of multi-focal bone LCH/right-exophthalmos Pos Cladribine cytarabine 4 months PR, AWD
Váradi (40) 2017 2/M Mixed (long bone; LE/BM) 8 months after multisystem LCH Pos Vemrafenib 18 months CR, NED
Hao (41) 2019 11/M Mixed (bones including LE/CNS) 6yrs after multifocal bone LCH and CDI/bilateral exophthalmos Pos Dabrafenib 4 months PR, AWD
Sako (42) 2020 7/M Multisystem (CNS/BM) 5 years after skull LCH Pos Radiation, u-CBT >17 years CR, NED
Ocak (43) 2021 2.5/F Mixed ECD (bilateral renal lesions, CNS, bones) 6 months after multisystem LCH Pos LCH-chemo, clofarabine 6 months PR, AWD
Singh (44) 2024 6 months/M LCH (parietal bone) to JXG/ECD (LE; femoral bone) Pos PSL, vinblastine NA NA
Romano (17) 2024 9/F Mixed (spine S4/S5, CNS) 4 years after CNS-LCH (pituitary, periorbital, etc.) Pos Peg-IFN-α NA CR, NED

AWD, alive with disease; BM, bone marrow; CDI, central diabetes insipidus; chemo, chemotherapy; CNS, central nervous system; CR, complete remission; ECD, Erdheim-Chester disease; F, female; JXG, juvenile xanthogranuloma; LCH, Langerhans cell histiocytosis; LE, lower extremity; M, male; NA, not available; NED, no evidence of disease; Peg-IFN-α, pegylated interferon-alpha; Pos, positive; PR, partial remission; PSL, prednisolone; u-CBT, unrelated cord blood transplantation.

Comparative results with those in previous surveys (Table 4)

Table 4

Analysis of CNS involvement in pediatric ECD cases

References Year Cases (N) Systemic involvement CNS involvement CNS details Freq of mixed histiocytosis (LCH/ECD) Outcome
Pegoraro (9) 2023 21 14/21 (67%) 13/21 (63%) CDI, etc.: 9/21 (43%); neurological deficits: 5/21 (24%) 8/21 (38%) 19/21 (90%) AWD
Li (16) 2024 25 NA 16/25 (64%) Sellar/parasellar: 8/16 (50%); neurological deficits: 5/16 (31%) 7/25 (28%) NA
Romano (17) 2024 15 NA 8/16 (53%) NA 3/15 (20%) 15/15 AWD
This survey 2026 28 21/28 (75%) 17/28 (61%) NA 7/28 (25%) None died

AWD, alive with disease; CDI, central diabetes insipidus; CNS, central nervous system; ECD, Erdheim-Chester disease; LCH, Langerhans cell histiocytosis; NA, not available.

Pegoraro et al. reported 21 pediatric cases (9), of which only 4 cases (32,34,35,43) overlapped with this survey results; thus, 17 cases were new (details unknown) in this analysis. Romano et al. (17) described 16 cases, 12 of which overlapped with this analysis, while detailed information was unavailable for the remaining 4 cases, which were not included in this survey. Li et al. (16) reviewed 25 cases of pediatric CNS-ECD cases, however, detailed information on the individual cases was not provided. More recently, Yang et al. published a comparative study of pediatric (n=5) and adult (n=67) ECD cases in a single center between 2012 and 2022 in China (10). In their article, mixed histiocytosis was excluded and all pediatric cases had CNS disease, and one had ophthalmologic disease (10). Not in Table 3, high incidence of ophthalmologic involvement was also confirmed, as described in Yeager et al.’s and Zhong et al.’s reports (11,38).

Thus, based on this survey, it is estimated that more than 30 pediatric ECD cases have been reported to date. As characteristics, all previous reports on pediatric ECD (as shown in Tables 2,3) showed a high incidence of CNS involvement; 53–64% (compared in adults 30–40%), as well as that of mixed histiocytosis; 20–38% (compared in adults, 14%), respectively. This survey confirmed these results (Table 4). Treatment [from observation to corticosteroids, chemotherapies, interferon-alpha (IFN-α), anakinra, targeted therapy, unrelated cord blood transplantation (u-CBT)] and follow-up periods were variable. In terms of outcome of pediatric ECD, Pegorano et al. reported at the end of follow-up, 4 had complete remission (CR), 11 partial remission (PR), 2 stable disease (SD), 2 death, 2 alive with no treatments (9). On the other hand, this survey showed all cases were alive with disease (AWD) except for two CR cases at the time of reporting.

Discussion

Although pediatric ECD is extremely rare, as shown in the survey results, it was estimated in this study that approximately 30 cases of ECD have been published in the literature. As characteristics of pediatric ECD findings, frequent CNS involvement, as well as a higher proportion of mixed histiocytosis and a high incidence (45%) of ophthalmologic ECD findings are noted (11). In addition, children tend to present less commonly with the typical non-CNS manifestations well recognized in adult ECD, such as perirenal, large-vessel, pulmonary, and cardiac lesions (9,10).

In pediatric cases presenting with CNS or ophthalmologic lesions, establishing a pathological diagnosis of ECD can be challenging. First, it is essential to suspect CNS-ECD and differentiate it from CNS-LCH and CNS-RDD. CNS involvement occurs in approximately 30–40% of patients with ECD and commonly affects the hypothalamic-pituitary axis, meninges, and brain parenchyma (19). CNS-ECD may also be associated with ophthalmologic involvement (11,38), and distinguishing it from CNS-RDD is particularly important, because both ECD and RDD present with multiple tumorous CNS lesions, predominantly involving the meninges (ECD: 75% vs. RDD: 71.4%) (45,46).

Second, positron emission tomography/computed tomography (PET/CT) may be useful for identifying more accessible biopsy sites. Al-Abdulmalek et al. recently reported an adult patient with CNS and ophthalmologic involvement in whom PET/CT revealed widespread fluorodeoxyglucose (FDG)-avid skeletal and soft tissue lesions. Histopathological evaluation was therefore performed using skin and bone marrow specimens rather than CNS tissue, ultimately confirming ECD with a BRAFV600E mutation (47).

Third, genetic testing of biopsied tissue is required. In differentiating ECD from RDD, it is important to note that BRAF mutations are detected in approximately 50% of ECD cases (6), whereas BRAFV600E is typically absent in RDD. Instead, NRAS, KRAS, and MAP2K1 mutations, including mutually exclusive KRAS and MAP2K1 mutations, have been reported in approximately one-third of RDD cases (6,48).

In summary, this study confirms that pediatric ECD is rare but may be underdiagnosed. This analysis was based only on the information from the literature, we collected 28 cases of pediatric ECD, and as their characteristics, higher incidence of mixed histiocytosis (7/28; 25%), of CNS disease (17/28; 61%) and ophthalmologic involvement (9/28; 32%) was noted.

Limitations of this review

Previously reported as pediatric ECD and mixed histiocytosis (LCH/ECD) cases have been analyzed. In this survey, respecting the interpretation of the original pathological findings and considering that the clinical features of ECD in children may be less typical than those observed in adults, we included these reported cases as pediatric ECD. However, in the future, it may be necessary to establish precise diagnostic criteria for pediatric ECD through expert consensus.

Conclusions

Because of the rarity of pediatric ECD, suspecting ECD in childhood remains challenging. Given the high incidence of CNS involvement in pediatric ECD, differentiating it from other histiocytic disorders, such as CNS-LCH and CNS-RDD, also poses a significant diagnostic challenge for clinicians. Furthermore, careful pathological evaluation with consideration of ECD and mixed histiocytosis, particularly in relapsed lesions initially diagnosed as LCH, as well as awareness of ophthalmologic manifestations, are essential. Such efforts may contribute to the identification and accumulation of additional pediatric ECD cases.

Acknowledgments

The author thanks Ms. Yasuko Hashimoto, Kyoto Prefectural University of Medicine, for her assistance in searching for references.

Footnote

Reporting Checklist: The author has completed the Narrative Review reporting checklist. Available at https://atm.amegroups.com/article/view/10.21037/atm-2026-0093/rc

Peer Review File: Available at https://atm.amegroups.com/article/view/10.21037/atm-2026-0093/prf

Funding: None.

Conflicts of Interest: The author has completed the ICMJE uniform disclosure form (available at https://atm.amegroups.com/article/view/10.21037/atm-2026-0093/coif). The author has no conflicts of interest to declare.

Ethical Statement: The author is accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Cite this article as: Imashuku S. Literature review of pediatric Erdheim-Chester disease (ECD) and mixed histiocytosis (Langerhans cell histiocytosis/ECD). Ann Transl Med 2026;14(4):53. doi: 10.21037/atm-2026-0093

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