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    1110 results match your criteria Juvenile Xanthogranuloma Nevoxanthoendothelioma

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    Dermoscopy in the diagnosis of juvenile xanthogranuloma.
    An Bras Dermatol 2018 Jan-Feb;93(1):138-140
    Dermatology Department at Hospital Santa Casa de Curitiba - Curitiba (PR), Brazil.
    Juvenile xanthogranuloma is the most common form of non-Langerhans cell histiocytosis. It manifests clinically as a red-yellow papule, usually showing spontaneous remission. The diagnosis is based on clinical and histological findings. Read More

    Oral Juvenile Xanthogranuloma in a child: clinical, histological, and immunohistochemical profile of a rare entity.
    J Cutan Pathol 2018 Apr 6. Epub 2018 Apr 6.
    Oral Pathology Section. Universidad Autónoma de Guadalajara (UAG), México.
    Juvenile Xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis (non-LCH) affecting normolipemic infants and children most frequently in the first year of life, often showing spontaneous regression within 3 to 6 years. Classic JXG is characterized by a yellowish asymptomatic papule or nodule, often located in the skin of the head, neck and upper trunk. Oral JXG have been reported, but is rare. Read More

    Cutaneous Hematolymphoid and Histiocytic Proliferations in Children.
    Pediatr Dev Pathol 2018 Mar-Apr;21(2):208-251
    2 Lauren V. Ackerman Laboratory of Surgical Pathology, St. Louis Children's Hospital and Dermatopathology, Washington University Medical Center, St. Louis, Missouri.
    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. Read More

    [Juvenile xanthogranuloma of the eye].
    Vestn Oftalmol 2018 ;134(1):89-96
    Kemerovo Regional Clinical Ophthalmological Hospital, Oktyabrsky pr., 22А, Kemerovo, Russian Federation, 650066.
    Juvenile xanthogranuloma (JX) is a benign growth of fibrohistiocytoma range that mainly affects children. The most frequent localization of the tumor is skin integument. Non-cutaneous forms of JX are found in 5-10% of cases; they are manifested as deep lesions of soft tissues, involvement of various organs (oropharynx, lungs, liver, spleen, pericardium, gastrointestinal tract, central nervous system, bone marrow) including the organ of vision. Read More

    Solitary Intraspinal Juvenile Xanthogranuloma in an Infant.
    Asian J Neurosurg 2018 Jan-Mar;13(1):172-175
    Department of Pathology, Topiwala National Medical College and B. Y. L. Nair Hospital, Mumbai, Maharashtra, India.
    Juvenile xanthogranuloma (JXG) is a benign, non-Langerhans cell histiocytic proliferative disorder. We report a case of solitary JXG in an infant presenting as an intraspinal mass. Awareness of this mode of presentation is very important as subsequent prognosis differs from other tumors at the same location. Read More

    Risk of intraocular and other extracutaneous involvement in patients with cutaneous juvenile xanthogranuloma.
    Pediatr Dermatol 2018 Feb 28. Epub 2018 Feb 28.
    Division of Dermatology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
    Background/objectives: Cutaneous juvenile xanthogranuloma is an uncommon, usually benign disease affecting infants and young children. Ocular and other systemic involvement have been reported, but their incidence is unclear, and the utility of routine screening is not well established. Our aim was to characterize the risk of ocular and systemic complications in children with cutaneous juvenile xanthogranuloma. Read More

    Congenital juvenile xanthogranuloma with ulceration: a pediatric case report.
    Dermatol Online J 2017 Jul 15;23(7). Epub 2017 Jul 15.
    Children's Mercy Hospital, Kansas City, Missouri.
    Congenital juvenile xanthogranuloma (JXG) is an uncommon diagnosis and even more rarely presents with ulceration. We report such a case in a two-week-old girl. Biopsy was performed to rule out any concerning entities. Read More

    Juvenile xanthogranuloma involving concurrent iris and skin: Clinical, pathological and molecular pathological evaluations.
    Am J Ophthalmol Case Rep 2018 Mar 23;9:10-13. Epub 2017 Sep 23.
    Department of Pathology, University Basel, Schönbeinstrasse 40, 4003 Basel, Switzerland.
    Purpose: To report a case of juvenile xanthogranuloma involving the iris and skin that clincally was diagnosed with an obvious cutaneous lesion.

    Observations: A four month-old girl with hyphema and increased intraocular pressure of the left eye persisting for 2 weeks. A suspicious yellow-brown mass with nodular surface and traversed by irregular vascularization was noted on the inferior iris surface. Read More

    Iris juvenile xanthogranuloma in an infant - spontaneous hyphema and secondary glaucoma.
    Rom J Ophthalmol 2017 Jul-Sep;61(3):229-236
    Opthalmology Clinic, "Sf. Spiridon" University Hospital, Iași, Romania.
    Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy and childhood. Although with multiple potential localizations, less than 1% of the cases exhibit ocular manifestations. Some of these might lead to serious complications, specifically, secondary glaucoma that can result in severe and blinding eye disease. Read More

    Histiocytosis - cutaneous manifestations of hematopoietic neoplasm and non-neoplastic histiocytic proliferations.
    J Eur Acad Dermatol Venereol 2018 Jan 16. Epub 2018 Jan 16.
    Department of Dermatology, University Hospital Zürich, Zürich, Switzerland.
    Histiocytoses are rare disorders characterized by the accumulation of cells derived from macrophages, dendritic cells or monocytes in various tissues. There is a broad spectrum of disease manifestations with some subtypes commonly showing skin lesions, while in others, the skin is rarely involved. Here, we describe cutaneous manifestations of histiocytoses belonging to the Langerhans group (L group), the group of cutaneous and mucocutaneous histiocytoses (C group) and the group of Rosai-Dorfman disease (RDD) and related histiocytoses (R group) according to the current classification. Read More

    Disseminated juvenile xanthogranuloma occurring after treatment of Langerhans cell histiocytosis: a case report.
    Childs Nerv Syst 2018 Apr 5;34(4):765-770. Epub 2017 Dec 5.
    Department of Dermatology, Chonnam National University Medical School, Chonnam National University Hwasun Hospital, Jeollanam-do, Republic of Korea.
    Case Presentation: An 11-year-old boy presented with a complaint of a painful temporal mass. Brain magnetic resonance imaging (MRI) showed a 3-cm-sized, homogeneously enhancing mass in the greater wing of the left sphenoid bone, which was diagnosed as Langerhans cell histiocytosis (LCH). Chemotherapy with vincristine and prednisolone was performed for 1 year. Read More

    Juvenile xanthogranuloma with angiomatous appearance and a peculiar immunophenotype.
    Pediatr Dermatol 2018 Jan 22;35(1):e55-e56. Epub 2017 Nov 22.
    Department of Dermatology, Hospital Universitario Fundacion Jiménez Diaz, Universidad Autónoma, Madrid, Spain.
    Juvenile xanthogranuloma is the most common form of non-Langerhans cell histiocytosis in childhood. The clinical differential diagnosis of a solitary juvenile xanthogranuloma includes molluscum contagiosum, Spitz nevus, and melanoma. Lesions larger than 2 cm in diameter may be misdiagnosed as hemangiomas, but this is not typical of smaller juvenile xanthogranuloma. Read More

    A rare case of intramedullary solitary juvenile xanthogranuloma of the lumbar spine in the adult: a case report.
    J Spine Surg 2017 Sep;3(3):504-508
    Department of Neurosurgery, S. Maurizio Hospital, Bolzano, Italy.
    Solitary juvenile xanthogranuloma (SJX) of the spine is an extremely rare proliferative histiocytic disorder with only few cases reported in literature. We present the first case of intramedullary spinal SJX. A 22-year-old male presented with a nine-month history of progressively worsening sphincteric disturbances and saddle hypoesthesia. Read More

    Scalp Lesions in a Pediatric Patient with Hyper IgM Syndrome: Clinical and Histologic Mimicry of Cryptococcus neoformans Infection.
    J Pediatr 2018 Jan 28;192:256-258. Epub 2017 Sep 28.
    Department of Pediatrics, Columbia University Medical Center, New York, NY; Department of Dermatology, Columbia University Medical Center, New York, NY.
    We report a case of cutaneous cryptococcosis due to Cryptococcus neoformans in a pediatric patient with hyper IgM syndrome with scalp lesions that resembled tinea capitis on gross examination and mimicked juvenile xanthogranuloma on histologic examination. This case highlights the importance of considering cutaneous cryptococcosis in patients with hyper IgM syndrome. Read More

    Systemic juvenile xanthogranuloma: a case of spontaneous regression of intramedullary spinal cord, cerebral, and cutaneous lesions.
    J Neurosurg Pediatr 2017 Dec 29;20(6):556-560. Epub 2017 Sep 29.
    Neurosurgery, and.
    Juvenile xanthogranuloma (JXG) is a rare disease that belongs to the non-Langerhans cell histiocytoses. It presents a wide clinical spectrum, usually occurs before 5 years of age, and is commonly confined to the skin; however, it can affect multiple sites, including the nervous system, and can lead to severe disorders. Although JXG is a benign disease that usually regresses spontaneously, several curative treatments have been proposed in cases of organ involvement. Read More

    Xanthoma-like Skin Changes in an Elderly Woman with a Normal Lipid Profile.
    Acta Dermatovenerol Croat 2017 Jul;25(2):167-169
    Professor Joanna Maj, MD, PhD, Department and Clinic of Dermatology, Venereology and Allergology, Wroclaw Medical University, Chałubińskiego 1, PL-50-368 Wrocław, Poland;
    Dear Editor, An 83-year-old woman developed yellow-brownish infiltrates, nodules, and tumors mimicking xanthomas, mostly involving the periorbital and chest area within three months (Figure 1). She had no abnormalities in serum cholesterol or triglycerides levels. A detailed laboratory analysis revealed the presence of mild monoclonal gammopathy with a presence of immunoglobulin G (IgG) kappa light chains; however, according to hematologist consultation, it did not require medical intervention. Read More

    Systemic Juvenile Xanthogranuloma Involving the Bone Marrow, Multiple Bones, and the Skin That Developed During Treatment of Acute Lymphoblastic Leukemia in Remission State.
    Pediatr Dev Pathol 2017 Jan 1:1093526617721775. Epub 2017 Jan 1.
    1 Department of Pediatrics, 37977 School of Medicine, Ajou University , Suwon, Korea.
    Juvenile xanthogranuloma (JXG) is a rare benign disorder classified as non-Langerhans cell histiocytosis, with unclear etiology and pathogenesis. JXG is generally characterized by solitary or multiple cutaneous nodules that resolve spontaneously over a few years. JXG rarely presents as extracutaneous lesions that progress to a symptomatic systemic disorder through multiple organ involvement. Read More

    Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity.
    Mod Pathol 2017 Sep 28;30(9):1234-1240. Epub 2017 Jul 28.
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.
    Juvenile xanthogranuloma is a rare histiocytic proliferation primarily affecting infants and young children, characterized by aberrant infiltration of histiocyte-derived cells in the skin, soft tissues and more rarely, visceral organs. Juvenile xanthogranuloma is generally considered to be a benign disorder; most lesions are solitary cutaneous nodules that resolve spontaneously without treatment. However, cases with extracutaneous involvement, multiple lesions, and/or systemic disease often require aggressive therapy. Read More

    Malignant transformation of multifocal tapioca iris nevus in a child.
    J AAPOS 2017 Aug 16;21(4):340-342. Epub 2017 Jun 16.
    Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:
    A 31-month-old white boy was evaluated for multiple iris lesions in his left eye, initially suspected to be juvenile xanthogranuloma and later diagnosed as tapioca nevi. Four years later the tumors enlarged. There was invasion throughout the anterior segment into the angle and related secondary elevation in intraocular pressure. Read More

    Oral Juvenile Xanthogranuloma: Report of Two Cases.
    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

    Erdheim-Chester Disease: Comprehensive Review of Molecular Profiling and Therapeutic Advances.
    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

    Neonatal glaucoma associated with juvenile xanthogranuloma: Case report.
    Arch Soc Esp Oftalmol 2017 Aug 15;92(8):394-397. 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

    Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma.
    Oncotarget 2017 Jul;8(28):46065-46070
    Texas Children's Cancer Center, Texas Children's Hospital, Houston, TX 77030, USA.
    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

    BRAF V600E mutation in pediatric intracranial and cranial juvenile xanthogranuloma.
    Hum Pathol 2017 11 10;69:118-122. Epub 2017 May 10.
    Department of Pathology, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Chulolongkorn GenePRO Center, Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand. Electronic address:
    Juvenile xanthogranuloma (JXG) is a cutaneous form of non-Langerhans cell histiocytosis, 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

    The clinical spectrum of xanthomatous lesions of the eyelids.
    Int J Dermatol 2017 Oct 13;56(10):981-992. 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

    Hemosiderotic Juvenile Xanthogranuloma.
    Am J Dermatopathol 2017 Oct;39(10):773-775
    *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

    [Generalized eruptive histiocytosis-Juvenile xanthogranuloma: clinical spectrum in a pediatric patient].
    Arch Argent Pediatr 2017 04;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

    Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1.
    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

    A Rare Case of Solitary Giant Congenital Juvenile Xanthogranuloma: A Case Report.
    J Cutan Med Surg 2017 May/Jun;21(3):267-269. 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

    A Case with Juvenile Xanthogranuloma and Progressive Nodular Histiocytosis Overlap.
    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

    The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study.
    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

    Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature.
    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

    [Solitary and congenital juvenile xanthogranuloma: case report].
    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

    Spectrum of Xanthogranulomatous Processes in the Abdomen and Pelvis: A Pictorial Review of Infectious, Inflammatory, and Proliferative Responses.
    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

    Juvenile Xanthogranuloma in Vulva of a 10-Year-Old Child.
    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

    Eruptive xanthogranuloma in a healthy adult male.
    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

    New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.
    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

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