Juvenile xanthogranuloma

Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.



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Narrow down the case reports



Total: 231 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(55.1%)
16047346
Prolonged severe pancytopenia preceding the cutaneous lesions of juvenile xanthogranuloma.
Hara T, Ohga S, Hattori S, Hatano M, Kaku N, Nomura A, Takada H, Kokuba H, Ohshima K, Hara T.
Pediatr Blood Cancer. 2006;47(1):103-6.
Hepatosplenomegaly Anemia Recurrent fever
Blood Coagulation Disorders Bone Marrow Hepatomegaly Homo sapiens Infant Juvenile Xanthogranuloma Male Pancytopenia Splenomegaly
2
(49.7%)
22031119
A rare case of neonatal systemic xanthogranulomatosis with severe hepatic disease and metachronous skin involvement.
Papadakis V, Volonaki E, Katsibardi K, Stefanaki K, Valari M, Anagnostakou M, Polychronopoulou S.
J Pediatr Hematol Oncol. 2012;34(3):226-8.
Jaundice Hepatosplenomegaly Pancytopenia Fever
Hepatomegaly Homo sapiens Immunosuppressive Agents Infant, Newborn Juvenile Xanthogranuloma Male Pancytopenia
3
(48.9%)
20000879
Cutaneous xanthogranulomas, hepatosplenomegaly, anemia, and thrombocytopenia as presenting signs of juvenile myelomonocytic leukemia.
Cham E, Siegel D, Ruben BS.
Am J Clin Dermatol. 2010;11(1):67-71.
Hepatosplenomegaly Anemia
NF1
Anemia Antimetabolites Hepatomegaly Homo sapiens Infant Juvenile Myelomonocytic Leukemia Juvenile Xanthogranuloma Male Splenomegaly Thrombocytopenia
3
(48.9%)
18660380
ALK+ histiocytosis: a novel type of systemic histiocytic proliferative disorder of early infancy.
Chan JK, Lamant L, Algar E, Delsol G, Tsang WY, Lee KC, Tiedemann K, Chow CW.
Blood. 2008;112(7):2965-8.
Pallor Hepatosplenomegaly Anemia
ALK CD163 CD1A CD207 CD68 F13A1 FSCN1 S100A1 TPM3
Activin Receptors, Type II Biopsy Cell Proliferation Females Histiocytes Histiocytosis Homo sapiens Infant Infant, Newborn Liver Skin
3
(48.9%)
15630537
Systemic form of juvenile xanthogranuloma: report of a case with liver and bone marrow involvement.
Chantranuwat C.
Pediatr Dev Pathol. 2004;7(6):646-8.
Hepatosplenomegaly Anemia
CD1A CD68 F13A1
Antineoplastic Agents, Phytogenic Bone Marrow Females Homo sapiens Infant Juvenile Xanthogranuloma Liver
3
(48.9%)
9655316
Juvenile xanthogranuloma with hematologic changes in dizygotic twins: report of two newborn infants.
Kobayashi K, Imai T, Adachi S, Yoifuji T, Furusho K, Kore-eda S, Mizuno K, Okamoto H.
Pediatr Dermatol. 1998;15(3):203-6.
Subcutaneous nodule Anemia Hepatomegaly
Anemia Differential Diagnosis Diseases in Twins Females Hepatomegaly Homo sapiens Infant, Newborn Juvenile Xanthogranuloma Thrombocytopenia
7
(47.3%)
28871936
Xanthoma-like Skin Changes in an Elderly Woman with a Normal Lipid Profile.
Nockowski P, Wozniak Z, Reich A, Maj J.
Acta Dermatovenerol Croat. 2017;25(2):167-169.
Conjunctivitis Anemia Elevated erythrocyte sedimentation rate Papule
C2 CD1A CD68
Aged, 80 and over Females Homo sapiens Lipids Necrobiotic Xanthogranuloma
8
(46.9%)
15022067
Liver involvement in the histiocytic disorders of childhood.
Jaffe R.
Pediatr Dev Pathol. 2004;7(3):214-25.
Hepatomegaly Biliary cirrhosis Hypoalbuminemia Myeloid leukemia
Biological Markers Child Child, Preschool Females Histiocytosis Homo sapiens Immunohistochemistry Infant Liver Male
9
(38.0%)
21054159
Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a case report and literature review.
Almarzooqi S, Reed S, Fung B, Boue DR, Prasad V, Pietryga D.
Pediatr Dev Pathol. 2011;14(4):307-12.
Poikiloderma Hepatosplenomegaly Pancytopenia
CD14 CD163 CD1A CD68 F13A1 FSCN1 PLEKHM1 PTPRC S100A1
Adaptor Proteins, Signal Transducing Autophagy-Related Proteins Biopsy Homo sapiens Infant, Newborn Juvenile Xanthogranuloma Male Membrane Glycoproteins Osteopetrosis
9
(38.0%)
20589639
Juvenile xanthogranuloma with hematological dysfunction treated with 2CDA-AraC.
Blouin P, Yvert M, Arbion F, Pagnier A, Emile JF, Eitenschenck L, Machet MC, Plantaz D, Colombat P, Alla CA, Donadieu J.
Pediatr Blood Cancer. 2010;55(4):757-60.
Hepatosplenomegaly Pancytopenia
HCFC1
Combination Drug Therapy Females Hematological Disease Homo sapiens Infant Juvenile Xanthogranuloma Male
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000498 Blepharitis Occasional (29-5%)
HP:0000501 Glaucoma Occasional (29-5%)
HP:0000520 Proptosis Occasional (29-5%)
HP:0000554 Uveitis Occasional (29-5%)
HP:0000572 Visual loss Occasional (29-5%)
HP:0001101 Iritis Occasional (29-5%)
HP:0002086 Abnormality of the respiratory system Occasional (29-5%)
HP:0005547 Myeloproliferative disorder Occasional (29-5%)
HP:0007565 Multiple cafe-au-lait spots Occasional (29-5%)
HP:0011830 Abnormal oral mucosa morphology Occasional (29-5%)
HP:0011886 Hyphema Occasional (29-5%)
HP:0200064 Asymmetry of iris pigmentation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 50

HPO ID Term # of case reports
HP:0100727 Histiocytosis 17
HP:0011886 Hyphema 11
HP:0200034 Papule 9
HP:0000501 Glaucoma 7
HP:0002861 Melanoma 7
HP:0032252 Granuloma 6
HP:0012315 Histiocytoma 4
HP:0000646 Amblyopia 3
HP:0001028 Hemangioma 3
HP:0001909 Leukemia 3
HP:0002664 Neoplasm 3
HP:0003764 Nevus 3
HP:0000520 Proptosis 2
HP:0000991 Xanthomatosis 2
HP:0200040 Epidermoid cyst 2
HP:0000508 Ptosis 1
HP:0000518 Cataract 1
HP:0000952 Jaundice 1
HP:0000957 Cafe-au-lait spot 1
HP:0000962 Hyperkeratosis 1
HP:0000989 Pruritus 1
HP:0001059 Pterygium 1
HP:0001075 Atrophic scars 1
HP:0001114 Xanthelasma 1
HP:0001250 Seizures 1
HP:0001433 Hepatosplenomegaly 1
HP:0001698 Pericardial effusion 1
HP:0001873 Thrombocytopenia 1
HP:0001903 Anemia 1
HP:0002094 Dyspnea 1
HP:0002488 Acute leukemia 1
HP:0002666 Pheochromocytoma 1
HP:0002671 Basal cell carcinoma 1
HP:0002716 Lymphadenopathy 1
HP:0002835 Aspiration 1
HP:0002860 Squamous cell carcinoma 1
HP:0007902 Vitreous hemorrhage 1
HP:0010550 Paraplegia 1
HP:0010566 Hamartoma 1
HP:0010980 Hyperlipoproteinemia 1
HP:0011002 Osteopetrosis 1
HP:0012324 Myeloid leukemia 1
HP:0012384 Rhinitis 1
HP:0012733 Macule 1
HP:0025511 Nevus sebaceus 1
HP:0030071 Medulloepithelioma 1
HP:0032163 Molluscum contagiosum 1
HP:0032404 Testicular mass 1
HP:0100532 Scleritis 1
HP:0100534 Episcleritis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID