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Anais Brasileiros de Dermatologia 2018Juvenile xanthogranuloma is the most common form of non-Langerhans cell histiocytosis. It manifests clinically as a red-yellow papule, usually showing spontaneous...
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. We report the use of dermoscopy ("setting sun" pattern) as an adjuvant tool in the diagnosis of juvenile xanthogranuloma in a female patient presenting with a 2-month history of a pre-auricular papule.
Topics: Adult; Dermoscopy; Female; Humans; Telangiectasis; Xanthogranuloma, Juvenile
PubMed: 29641718
DOI: 10.1590/abd1806-4841.20186849 -
JAAD Case Reports Nov 2019
PubMed: 31709292
DOI: 10.1016/j.jdcr.2019.08.021 -
Dermatopathology (Basel, Switzerland) Aug 2021Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions' clinical aspect (color and...
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.
PubMed: 34449594
DOI: 10.3390/dermatopathology8030043 -
Rare Tumors 2021Rare pediatric tumors are heterogeneous group containing a variety of histopathological diseases, they represent approximately 10% of all childhood cancers. These rare...
Rare pediatric tumors are heterogeneous group containing a variety of histopathological diseases, they represent approximately 10% of all childhood cancers. These rare tumors had a diversity of histology and clinical behaviors that pose different challenges to the investigators. Exploring different pediatric rare tumors. The data were reviewed, retrospectively, through the medical records of seven rare pediatric diseases between 2012 and 2019. Giant cell fibroblastoma (GCF) presented as painless swelling in the trunk, positive for CD34 with PTEN gene mutation. Neuroglial heterotopic tissue presented in 7 days old girl with facial asymmetry and bulging in the oral cavity, maximal de-bulking was done, histopathology was positive for GFAP and S100p. Left side neck mass, surgically excised revealed non-metastatic salivary grand mucoepidermoid carcinoma. Follow up without any chemotherapy or radiotherapy for 5 years with complete remission. Mesenchymal chondrosarcoma (MCS) presented in maxillofacial bones by persistent nasal bleeding, HEY1-NCOA2 fusion gene confirmed the diagnosis. Extra-osseous Ewing sarcoma (EES) presented as rubbery painless swelling in the scalp with fusion transcript involving EWSR1-FL11. Juvenile xanthogranuloma (JXG) presented by butter fly like skin patch in the face with foamy histiocytes in upper dermis with few Touton giant cells, extensive systemic involvement of lung and bone marrow. Metastatic ovarian choriocarcinoma with choriocarcinoma syndrome received induction two different lines of chemotherapy and consolidated with autologous stem cell transplant. Seven pediatric rare tumors, with different aspects of challenges in diagnosis and management, despite the absence of formal protocols and rarity of other center experiences.
PubMed: 33708364
DOI: 10.1177/2036361321997331 -
American Journal of Ophthalmology Case... Apr 2017Juvenile xanthogranuloma (JXG) is a rare histiocytic skin disease primarily of young children, which may also affect ocular structures and in particular the iris.
PURPOSE
Juvenile xanthogranuloma (JXG) is a rare histiocytic skin disease primarily of young children, which may also affect ocular structures and in particular the iris.
OBSERVATIONS
This is a case report of a fifty-year-old patient without skin lesions showing a progressive decrease of visual acuity, iris vascularization and a yellowish iris tumor in the iridocorneal angle of his right eye. Treatment with topical and systemic prednisolone led to full recovery of visual acuity, tumor regression and .
CONCLUSIONS AND IMPORTANCE
Although the juvenile xanthogranuloma is a very rare skin disease of young children, it may also affect the eye and in particular the iris in adult patients. There exists no standard treatment, the first-line therapy in most cases, however, is topical and systemic prednisolone application.
PubMed: 29503951
DOI: 10.1016/j.ajoc.2016.12.003 -
Radiology Case Reports Feb 2023Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that rarely involves other than the skin. Here, we present detailed ultrasound (US)...
Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that rarely involves other than the skin. Here, we present detailed ultrasound (US) findings, including a contrast study, of a rare JXD renal lesion. A 42-year-old woman with JXG had chronic kidney disease. Ultrasound showed multiple cystic masses with fine internal septa in both kidneys. Contrast-enhanced US revealed early staining and late washout consistent with the internal septa inside the masses and led us to suspect cystic renal cell carcinomas in both kidneys. Left nephrectomy was performed for diagnostic purposes. Microscopic examination revealed a foamy component with Touton-type giant cells by histiocytosis; CD68 and S100 were positive, and CD1a was negative, leading the diagnosis of JXD. The US findings of extracutaneous lesions on JXA are variable and can be cystic, and when arising in the kidney may resemble cystic renal cell carcinoma.
PubMed: 36439921
DOI: 10.1016/j.radcr.2022.10.101 -
Case Reports in Ophthalmology 2022Xanthogranuloma is a benign histiocytic disorder that generally appears in infants and children and often called juvenile xanthogranuloma (JXG). Typical reddish-yellow...
Xanthogranuloma is a benign histiocytic disorder that generally appears in infants and children and often called juvenile xanthogranuloma (JXG). Typical reddish-yellow cutaneous papules or nodules are the most common presentation of JXG. Extracutaneous JXG affects eyes, brain, lungs, liver, spleen, and other sites. Isolated ocular manifestation without skin lesion is rare, especially in adult patients. Here, we report a case of a 27-year-old man who presented with gradually growing yellowish mass at the corneoscleral area of the left eye for 5 months. The patient had worn soft contact lenses for more than 10 years. With atypical age of onset and the absence of skin lesion, total mass excision with lamellar corneoscleral graft and amniotic membrane transplantation was done, and the diagnosis of adult-onset limbal xanthogranuloma was made by histopathological and immunohistochemical examinations. Postoperatively, the patient had good vision with corrected distant visual acuity of 20/30, and the graft was clear. There was no evidence of recurrence at 4-year follow-up. We found that excision with lamellar corneoscleral graft in limbal xanthogranuloma shows good result with no recurrence. The same result occurred to other previous cases reported, so complete excision with graft could be an effective treatment of choice in patient with limbal xanthogranuloma.
PubMed: 36466058
DOI: 10.1159/000526711 -
The American Journal of Pathology Nov 1979Tissues were studied from four subjects with homozygous familial hypercholesterolemia (FH). The specimens consisted of tissues obtained from a 20-week-old fetus at... (Comparative Study)
Comparative Study Review
Tissues were studied from four subjects with homozygous familial hypercholesterolemia (FH). The specimens consisted of tissues obtained from a 20-week-old fetus at autopsy, samples from a 9-year-old girl during open-heart surgery, and biopsies of cutaneous xanthomas from a 13-year-old girl and a 21-year-old man. The FH fetus, but not the 3 control fetuses, exhibited multifocal lipid deposition particularly involving the stromal cells of the thymus, spleen, and skin and both the stromal and parenchymal cells of the kidney. Only one minute focus of intimal lipid accumulation was found in the aorta and coronary arteries of the FH fetus. A segment of the ascending aorta from the 9-year-old girl showed: 1) foam-cell transformation of many medial smooth-muscle cells, 2) abnormal vascularization of the inner media and intima, and 3) intimal involvement by a typical artherosclerotic plaque with lipid deposits in thin, elongated cells that showed some myocytic features and in foam cells that lacked such features. The mitral and aortic valves of this patient also contained numerous foam cells and showed mild to moderate fibrous thickening. A segment of the saphenous vein, however, contained no lipid deposits. The three xanthomas from two FH homozygotes exhibited marked lipid accumulation in histiocytic foam cells but no lipid deposits in the endothelium of blood vessels in the lesions. The findings in this study, in conjunction with those reported in studies of other FH homozygotes, indicate that homozygous FH is characterized by accelerated atherosclerosis and prominent lipid accumulation in macrophages and other stromal cells of the aortic and mitral valves, skin, tendon, and, varibly, in other extravascular sites. Since most of the intracellular lipid was in the form of non-membrane-bound neutral lipid droplets, it appears that the cytoplasm is the major site of lipid storage in this disease.
Topics: Adolescent; Adult; Aorta; Child; Coronary Disease; Coronary Vessels; Female; Fetal Diseases; Heart Valves; Homozygote; Humans; Hyperlipoproteinemia Type II; Lipid Metabolism; Lymph Nodes; Male; Pregnancy; Skin; Spleen; Xanthogranuloma, Juvenile
PubMed: 118674
DOI: No ID Found -
Actas Dermo-sifiliograficas Sep 2017
Topics: Child; Female; Humans; Ultrasonography; Xanthogranuloma, Juvenile
PubMed: 28372783
DOI: 10.1016/j.ad.2016.11.021 -
Journal of Medical Case Reports Jan 2011Juvenile xanthogranuloma is a rare non-Langerhans cell histiocytosis that usually occurs during infancy and early childhood. The presence of single or multiple raised...
INTRODUCTION
Juvenile xanthogranuloma is a rare non-Langerhans cell histiocytosis that usually occurs during infancy and early childhood. The presence of single or multiple raised cutaneous lesions characterize this self-healing disorder. Extracutaneous sites are rare.
CASE PRESENTATION
We present a rare case of oral juvenile xanthogranuloma in a 49-year-old Caucasian woman. The histopathologic diagnosis of the lingual neoformation was histiocitary proliferation with the presence of giant cells, Touton type, compatible with juvenile xanthogranuloma.
CONCLUSION
To establish an accurate diagnosis, microscopic evaluation and immunohistochemical staining are necessary. Dentists, dermatologists and general practitioners may be the first to recognize this rare condition during the inspection of the oral cavity.
PubMed: 21261950
DOI: 10.1186/1752-1947-5-30