Pediatr Dent 2017 May;39(3):238-240

Associate professor of Oral Pathology, in the School of Dentistry, Rio de Janeiro State University, Rio de Janeiro, Brazil;, Email:

Juvenile xanthogranuloma is a rare non-Langerhans cell histiocytosis that usually occurs in the skin of children. Extracutaneous involvement is rare, and few cases affecting the oral cavity have been reported. The purpose of the present study was to report two cases of oral juvenile xanthogranuloma affecting the lower lip of a 14-year-old girl and the soft palate of a second 14-month-old girl, both present as yellowish papules. Read More

Anticancer Res 2017 06;37(6):2777-2783

Division of Hematology and Oncology, Department of Medicine, George Washington University Medical Center, Washington, DC, U.S.A.

The revised 2016 World Health Organization classification introduced Erdheim-Chester disease (ECD) as a provisional entity within the histiocytic and dendritic cell neoplasms separate from the juvenile xanthogranuloma family based on distinct molecular features. However, evolving knowledge regarding the molecular and genetic aberrations in addition to common clinical features of ECD support the classification of ECD together with Langerhans cell histiocytosis (LCH). Accordingly, ECD can be thought of as an inflammatory myeloid clonal disorder based on the detection of various activating mutations along the mitogen activated protein kinase-extracellular signal regulated kinase (MAPK-ERK) pathway with most notable variant being a valine to a glutamic acid substitution at amino acid 600 in the B-rapidly accelerated fibrosarcoma protein (BRAFV600E). Read More

Arch Soc Esp Oftalmol 2017 May 15. Epub 2017 May 15.

Servicio de Oftalmología, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España.

Case Report: The case concerns a 22 day-old male child with juvenile xanthogranuloma (JXG), which manifested as a unilateral glaucoma and with fibrinous haemorrhagic exudate in the anterior chamber affecting the angle of the right eye. Despite a high level of suspicion, the definitive diagnosis was not possible until the infant reached the age of 10 months, after the appearance of the skin lesions typical of this condition and histopathological study of them.

Conclusion: JXG is a rare disease, characterised by yellowish skin lesions on the trunk, neck, or head. Read More

Oncotarget 2017 04 29. Epub 2017 Apr 29.

Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030.

Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that is usually benign and self-limiting. We present a case of atypical, aggressive JXG harboring a novel mitogen-activated protein kinase (MAPK) pathway mutation in the MAPK1 gene, which encodes mitogen-activated protein kinase 1 or extracellular signal-regulated 2 (ERK2). Our analysis revealed that the mutation results in constitutive ERK activation that is resistant to BRAF or MEK inhibitors but susceptible to an ERK inhibitor. Read More

Hum Pathol 2017 May 10. Epub 2017 May 10.

Department of Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Chulolongkorn GenePRO Center, Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. Electronic address:

Juvenile xanthogranuloma (JXG) is a cutaneous form of non-Langerhans cell histiocytosis (LCH), primarily affecting children. The lesion is presumed to originate from either macrophages or dermal dendritic cells. JXG can rarely present as an isolated intracranial lesion and, in contrast to the dismal outcome of patients with systemic disease, cranial JXG has been shown to carry a more favorable prognosis. Read More

Int J Dermatol 2017 May 13. Epub 2017 May 13.

Pathology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

Yellowish papules, nodules, or plaques, namely "xanthomatous" lesions, may be seen on the eyelids in the course of various disorders. The prototype is "xanthelasma palpebrarum" (XP) that is localized only to the eyelids and may be associated with hyperlipidemia. On the other hand, different types of normolipemic disorders may also cause xanthomatous eyelid lesions. Read More

Ann Hematol 2017 Jul 12;96(7):1233-1235. Epub 2017 May 12.

Pediatrics, Nihon University School of Medicine, 30-1 Ohyaguchi-kamicho, Itabashi-ku, Tokyo, 173-8610, Japan.

Neuropathol Appl Neurobiol 2017 Apr 12. Epub 2017 Apr 12.

Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

Primary histiocytic tumors of the CNS are rare. The current WHO classification (2016) included 5 entities: Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and histiocytic sarcoma (HS) (1). The diagnosis usually is made based on the tumor differentiation as to the counterpart in normal histiocyte development. Read More

Am J Dermatopathol 2017 Mar 16. Epub 2017 Mar 16.

*Department of Cellular Pathology, Hospital El Bierzo, Cellular Pathology, Ponferrada, Spain; †Biomedical Investigation Institute of A Coruña, CellCOM-ST Group, A Coruña, Spain; ‡Department of Cellular Pathology, Hospital de la Reina, Cellular Pathology, Ponferrada, Spain; §Department of Histopathology, Children's Birmingham Hospital, Birmingham, United Kingdom; ¶Department of Histopathology, Birmingham Children's Hospital, Birmingham, United Kingdom; ‖Department of Histopathology, University Children's Hospital, Dublin, Ireland; and **Department of Histopathology, Hospital Niño Jesus, Madrid, Spain.

Juvenile xanthogranuloma is a non-Langerhans cell lesion mostly limited to the skin but occasionally presenting in extracutaneous locations or associated with systemic conditions. Lesions need to be distinguished mainly from dermatofibroma, xanthoma, Langerhans cell histiocytosis, or reticulohistiocytoma. Herein, we present a hemosiderotic variant of juvenile xanthogranuloma in a 12-year-old girl, which we have not found described in literature. Read More

Actas Dermosifiliogr 2017 Mar 31. Epub 2017 Mar 31.

Servicio de Dermatología, Hospital Universitario de Fuenlabrada, Madrid, España.

Arch Argent Pediatr 2017 Apr;115(2):e116-e119

Servicio de Dermatología. Hospital del Niño Jesús. San Miguel de Tucumán.

Both, generalized eruptive histiocytosis and juvenile xanthogranuloma are dendritic histiocytic disorders (also known as non-Langerhans cells histiocytosis) that share clinicopathological and immunohistiochemical characteristics. We present a 3-year-old female patient with skin lesions that were clinically compatible with generalized eruptive histiocytosis, confirmed by histopathological and immunohistochemical studies. During her development the disorder compromised the central nervous system, and surgical intervention of one symptomatic lesion was needed. Read More

Pediatr Dermatol 2017 May 20;34(3):271-276. Epub 2017 Mar 20.

Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.

Background/objectives: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1.

Methods: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015. Read More

J Cutan Med Surg 2017 Feb 1:1203475417690718. Epub 2017 Feb 1.

3 Hôpital de Maria, Maria, QC, Canada.

Juvenile xanthogranuloma (JXG) is the most frequent form of non-Langerhans cell histiocytosis. We present a case of giant congenital JXG in a 7-week-old boy, who had a firm and incompressible lesion, measuring 3 × 4 cm in diameter, on his right flank. The clinical appearance of the lesion and the ultrasound results suggested a vascular tumor, such as a hemangioma. Read More

Pediatr Dermatol 2017 Mar;34(2):e102-e103

Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

A patient with overlap between juvenile xanthogranuloma and progressive nodular histiocytosis is presented. He had progressive, superficial, small, yellow-reddish papules and large dermal nodules, consistent with progressive nodular histiocytosis. Histopathology showed distinctive features of juvenile xanthogranuloma. Read More

Br J Dermatol 2017 02;176(2):302-304

Departments of Dermatology, Venereology and Allergology, University of Schleswig-Holstein (UKSH), Campus Kiel, Kiel, Germany.

J Am Acad Dermatol 2017 Jun 8;76(6):1084-1087. Epub 2017 Feb 8.

Section of Pediatric Dermatology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:

Background: Neurofibromatosis type 1 (NF-1) predisposes individuals to the development of benign and malignant tumors. The association of NF-1, juvenile xanthogranuloma (JXG), and juvenile myelomonocytic leukemia has been described in the literature. It is unclear whether JXG alone constitute a risk factor for leukemia or other malignancies in children with NF-1. Read More

Arch Pediatr 2017 Mar 1;24(3):298-300. Epub 2017 Feb 1.

Université François-Rabelais de Tours, 37000 Tours, France; Service de dermatologie, hôpital Trousseau, CHRU de Tours, avenue de la République, 37044 Tours cedex 9, France.

Pediatr Dermatol 2017 Mar 23;34(2):114-118. Epub 2017 Jan 23.

Department of Dermatology, University of Kiel, Kiel, Germany.

The occurrence of juvenile myelomonocytic leukemia (JMML), juvenile xanthogranuloma (JXG), and neurofibromatosis type 1 (NF1) together is relatively rare. Approximately only 20 cases have been reported in the literature. It is debated whether children with NF1 and JXG are at higher risk of developing JMML than children with NF1 alone. Read More

Pediatr Int 2017 Jan;59(1):118-119

Pathology Department, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.

Arch Argent Pediatr 2017 02;115(1):e9-e12

Servicio de Dermatología, Hospital Nacional de Pediatría "Prof. Dr. Juan P. Garrahan", Ciudad Autónoma de Buenos Aires, Argentina.

Juvenile xanthogranuloma is a bening pathology and it represents the most common form of non-Langerhans cell histiocytosis. It is characterized by the presence of papules or firm nodules of a pinkish or yellow-brownish nature, which mainly compromise the skin and, exceptionally, other organs. It is a self-limited entity having a spontaneous regression during the first five years of life. Read More

AJR Am J Roentgenol 2017 Mar 17;208(3):475-484. Epub 2017 Jan 17.

3 Department of Diagnostic Radiology, The University of Texas M. D. Anderson Cancer Center, 1400 Pressler St, Houston, TX 77030.

Objective: Xanthogranulomatous (XG) processes are rare inflammatory conditions with the characteristic pathologic feature of lipid-laden macrophages or histiocyte cells. Imaging findings are nonspecific and can simulate aggressive neoplastic processes. XG processes can be caused by infection, inflammation, histolytic process, or an inherited lysosomal disorder. Read More

J Am Acad Dermatol 2017 Feb;76(2S1):S76-S78

Department of Dermatology, Seoul National University College of Medicine, Seoul, Republic of Korea.

J Am Acad Dermatol 2017 Feb;76(2S1):S5-S7

Dermatology Department, Clinical University Hospital of Valencia, Valencia, Spain.

J Clin Diagn Res 2016 Nov 1;10(11):ED21-ED22. Epub 2016 Nov 1.

Professor, Department of Surgery, Madan Mohan Malviya Hospital , New Delhi, India .

A 10-year-old child presented with asymptomatic, well-circumscribed nodule in the vulva. Excision biopsy showed features of classic Juvenile Xanthogranuloma (JXG) which is a rare benign disorder of non-langerhans' cell group of histiocytic proliferative diseases. The presentation of this lesion as vulval nodule is extremely rare and the extensive literature search revealed only handful of cases of vulval xanthogranuloma that too in an adult age group. Read More

J Cutan Pathol 2017 Apr 16;44(4):385-387. Epub 2017 Jan 16.

Department of Dermatology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

Xanthogranuloma is a benign, non-Langerhans cell histiocytosis primarily diagnosed in infants and children, although a subset occurs in adults. Multifocal eruptive presentation of xanthogranuloma is very rare with only 4 previous cases reported in the literature to our knowledge. We describe a case of eruptive xanthogranuloma in a 49-year-old man who presented with sudden onset of numerous asymptomatic, red-yellow to orange papules on the face, scalp, axilla, flank and scrotum. Read More

J Clin Endocrinol Metab 2017 Feb;102(2):350-353

Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida 33136; and.

Context: Alagille syndrome is a rare autosomal-dominant genetic disorder caused by defects in the Notch signaling pathway, which involves multiple organ systems. Bile duct paucity is the main characteristic feature of the disease, which often leads to cholestatic hypercholesterolemia.

Case Description: We report the case of a male infant who had developed failure to thrive, jaundice, intermittent pruritus, and multiple diffuse symmetrical skin xanthomas at 1 year of age. Read More

Ann Dermatol 2016 Dec 23;28(6):783-784. Epub 2016 Nov 23.

Department of Dermatology, Bucheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Bucheon, Korea.

Histopathology 2017 Mar 23;70(4):513-521. Epub 2016 Dec 23.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

The World Health Organization (WHO) released a new tumour classification for the genitourinary system in early 2016 after consensus by pathologists with expertise in these organs. It utilized the framework of the 2004 classification, and incorporated the most up-to-date information concerning these tumours. In testicular tumours, the majority of the changes occurred in the nomenclature and classification of germ cell tumours; however, several modifications were also made for non-germ cell tumours. Read More

Semin Diagn Pathol 2016 Nov 5;33(6):441-449. Epub 2016 Sep 5.

Department of Pathology & Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri.

Dr. Louis "Pepper" Dehner has been one of the most influential surgical pathologists of the last century. Authoring more than 450 publications, he is the premier modern pediatric pathologist. Read More

Semin Diagn Pathol 2016 Nov 1;33(6):396-409. Epub 2016 Sep 1.

Department of Pathology, Children׳s Hospital of Pittsburgh of UPMC, 4401 Penn Ave (Suite B260), Pittsburgh, Pennsylvania. Electronic address:

The study of Histiocytic lesions has been a passion of Pepper Dehner over the years. He has contributed several case series and reviews on various categories of these diseases for over 4 decades, with his earliest articles in the 1970s. He has written on all aspects of the disease including seminal articles on Langerhans cell histiocytosis (LCH) and their prognostic features, his experiences with regressing atypical histiocytosis, his encounters with malignant histiocytosis, and classic articles on juvenile xanthogranuloma. Read More

Pediatr Ann 2016 Sep;45(9):e314-6

Br J Radiol 2016 Dec 26;89(1068):20160347. Epub 2016 Sep 26.

5 Department of Radiology, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.

The objectives of this article were: (1) to review common and rare manifestations of systemic and pulmonary Langerhans cell histiocytosis, Rosai-Dorfman disease, Erdheim-Chester disease and juvenile xanthogranuloma; (2) to provide the reader with important pathologic, epidemiologic and clinical features of these diseases. The histiocytoses are a diverse group of diseases which typically manifest with multiorgan involvement. Understanding the pathologic, epidemiologic and clinical features of these entities can help the radiologist suggest an accurate diagnosis of histiocytosis when typical imaging features are encountered. Read More

J Glaucoma 2016 Aug;25(8):e759-60

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.

We report a case of juvenile xanthogranuloma in a 12-month-old girl presenting with heterochromia, hyphema, and elevated intraocular pressure. This case demonstrates new ultrasound biomicroscopy iris findings of a generalized bumpy iris contour, suggesting diffuse heterogeneous involvement. This imaging finding has not been previously described. Read More

Brain Dev 2016 Nov 18;38(10):964-967. Epub 2016 Jul 18.

Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Japan. Electronic address:

MRI in a 2-year-old female presenting afebrile seizures and left blepharoptosis revealed multiple well-marginated round-shaped lesions, isointensity to gray matter on T1- and T2-weighted images with homogenously reduced diffusion and diffuse contrast enhancement. MRS revealed elevation of taurine, choline and glutamate, and reduction of N-acetylaspartate. A brain biopsy confirmed a diagnosis of juvenile xanthogranuloma (JXG). Read More

Fetal Pediatr Pathol 2016 1;35(6):420-424. Epub 2016 Jul 1.

a Histopathology , Post Graduate Institute of Medical Education and Research , Chandigarh , India.

Juvenile xanthogranuloma (JXG) is a histiocytic disorder of childhood that mostly affects the skin although extracutaneous and visceral manifestations are well documented in English literature. The renal involvement is less commonly documented as a manifestation of xanthogranuloma and the reported cases occur in conjunction with cutaneous xanthogranuloma, especially in association with multiple skin lesions. We present a case of isolated renal JXG presenting as a renal mass with perinephric soft tissue and muscle involvement but without any cutaneous manifestation. Read More

J AAPOS 2016 Aug 7;20(4):368-70. Epub 2016 Jun 7.

Department of Ophthalmic Pathology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.

An 8-year-old healthy boy underwent surgery for excision of a painless, enlarging vascularized conjunctival tumor. Histopathology disclosed a mass comprised of interweaving spindle cells and scattered histiocytes in a fibrous matrix, consistent with benign fibrous histiocytoma. This rare tumor can resemble several conditions, including scleritis/episcleritis, inflamed pterygium, juvenile xanthogranuloma, foreign body granuloma, solitary fibrous tumor, amelanotic melanoma, and squamous cell carcinoma. Read More

An Pediatr (Barc) 2016 May 13. Epub 2016 May 13.

Servicio de Dermatología, Hospital General Universitario de Valencia, Valencia, España.

Acta Neurochir (Wien) 2016 Jul 13;158(7):1289-97. Epub 2016 May 13.

Department of pediatric Neurosurgery, Xinhua hospital, Shanghai Jiao Tong University, Shanghai, 200092, China.

Background: Juvenile xanthogranulomas (JXGs) are uncommon non-Langerhans cell histiocytic proliferations which occur most often in children. Rare cases of intracranial JXGs in children have been reported. The precise treatment strategy for intracranial JXG with high fatality is still unclear. Read More

Ann Dermatol 2016 Apr 31;28(2):260-1. Epub 2016 Mar 31.

Department of Dermatology, Chungnam National University School of Medicine, Daejeon, Korea.

Pediatr Dermatol 2016 May 4;33(3):e228-9. Epub 2016 Apr 4.

Comprehensive Dermatology Group, Encinitas, California.

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease involving a defect in DNA repair leading to the premature development of numerous aggressive cutaneous malignancies. Although atypical fibroxanthoma (AFX) is a neoplasm typically found in the setting of extensive sun exposure or therapeutic radiation, AFXs are rarely associated with children with XP. We report the case of a 13-year-old Guatemalan girl with the XP type C variant who developed one of the largest AFXs reported on a child's finger. Read More

Dermatol Online J 2016 Jan 15;22(1). Epub 2016 Jan 15.

Medical Research Foundation, Sankara Nethralaya, Chennai.

A three-year-old boy presented to our oculoplastic clinic with complaints of painless gradually increasing right upper lid mass for the last 6 months. On examination a firm mass measuring roughly 1x1 cm was present on the upper lid. The mass was non tender with fine superficial vessels running over it. Read More

MMW Fortschr Med 2016 Mar;158(5)

, Höntroper Str. 102, D-44869, Bochum, Deutschland.

J Cutan Pathol 2016 May 4;43(5):456-60. Epub 2016 Apr 4.

Department of Pathology, Hospital Clínico Universitario, Valencia, Spain.

Langerhans cell histiocytosis (LCH) and juvenile xanthogranuloma (JXG) are thought to originate from a common stem cell precursor, with divergent differentiation under different microenvironmental conditions. We describe an exceptional case of multiple cutaneous lesions in a 10-year-old boy, in which the coexistence of both LCH and JXG cell populations is found in every single lesion. The presence of Birbeck granules and CD207 (langerin) immunostaining in the LCH component would argue against the diagnosis of indeterminate cell histiocytosis (ICH). Read More

Vojnosanit Pregl 2016 Jan;73(1):83-7

Introduction: Erdheim-Chester disease (ECD) is a rare, systemic form of non-Langerhans cell histiocytosis of the juvenile xanthogranuloma family with characteristic bilateral symmetrical long bone osteosclerosis, associated with xanthogranulomatous extra skeletal organ involvement. In ECD, central nervous system (CNS) and orbital lesions are frequent, and more than half of ECD pa tients carry the V600E mutation of the protooncogene BRAF. The synchronous or metachronous development of ECD and Langerhans cell histiocytosis (LCH) in the same patients is rare, and the possible connection between them is still obscure. Read More

Actas Dermosifiliogr 2016 Jul-Aug;107(6):465-73. Epub 2016 Mar 5.

Servicio de Neurología, Hospital Infantil del Niño Jesús, Madrid, España.

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists. Although the genetic locus of NF1 was identified on chromosome 17 in 1987, diagnosis of the disease is still based primarily on clinical observations. The 7 diagnostic criteria of the National Institutes of Health, which were established in 1988, include 3 skin manifestations (café-au-lait spots, freckling on flexural areas, and cutaneous neurofibromas). Read More

Case Rep Dermatol 2015 Sep-Dec;7(3):358-62. Epub 2015 Dec 23.

Department of Dermatology, Tokyo Medical University, Tokyo, Japan.

We herein report a case of hair follicle nevus, a rare hamartoma found on the face and showing follicular differentiation, which was associated with sebaceous hyperplasia. Dermoscopy of the lesion showed yellow globules surrounded by crown vessels/telangiectasias and scattered tiny hairs. Histopathological investigation revealed hyperplasia of the sebaceous glands and proliferation of well-differentiated vellus hair follicles. Read More

Saudi J Ophthalmol 2016 Jan-Mar;30(1):49-52. Epub 2015 Nov 25.

Alfaisal University, Riyadh, Saudi Arabia; Al-Magrabi Hospital, Riyadh, Saudi Arabia.

Juvenile xanthogranuloma (JXG) is a benign inflammatory condition of uncertain pathogenesis. It is characterized by skin and ocular involvement - typically in the iris - in children. It has been reported in older age groups and has been also observed to involve other ocular structures such as the cornea and conjunctiva. Read More

Can J Ophthalmol 2016 Feb;51(1):e23-4

İhsan Doğramacı Childrens Hospital, Hacettepe University School of Medicine, Ankara, Turkey.

BMJ 2016 Feb 10;352:i824. Epub 2016 Feb 10.

South Australian Institute of Ophthalmology, University of Adelaide, Adelaide, Australia.

Graefes Arch Clin Exp Ophthalmol 2016 Mar 21;254(3):413-20. Epub 2016 Jan 21.

Pathology, Department of Molecular and Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, Daulby Street, Liverpool, L69 3GA, UK.

Purpose: Adult-onset xanthogranuloma (AOX) of the corneoscleral limbus is a rare inflammatory condition of unknown aetiology. Similar to limbal juvenile xanthogranuloma (JXG), it presents as a growing mass at the corneoscleral junction. Limbal AOX and JXG can lead to sight-threatening complications if not managed in a timely manner. Read More