Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Juvenile xanthogranuloma (JXG) is a disease of unknown etiology and pathogenesis which was first recognized by dermatologists. The ocular complications provide the primary concern and notably affect the iris, producing spontaneous hemorrhages in the anterior chamber. Secondary glaucoma and blindness are real threats unless the condition is recognized in the early stages and satisfactory treatment instituted. Other ocular manifestations include epibulbar lesions with corneal involvement and proptosis due to orbital lesions of JXG.
J Pediatr Ophthalmol Strabismus
PMID:Juvenile xanthogranuloma. 680 51

We describe an unusual presentation of juvenile xanthogranuloma in a 4-year-old girl. Juvenile xanthogranuloma may be associated with posterior manifestations including optic nerve and choroidal granulomas, panuveitis, and vitreous hemorrhage in the absence of the classic anterior segment manifestations.
J Pediatr Ophthalmol Strabismus
PMID:Chorioretinal involvement and vitreous hemorrhage in a patient with juvenile xanthogranuloma. 1612 56

Juvenile xanthogranuloma is a benign non-Langerhans cell histiocytosis characterized by skin lesions that tend to be self-limited. Ocular lesions can occur in juvenile xanthogranuloma, most commonly presenting as an iris granuloma. Skin lesions of juvenile xanthogranuloma may appear similar to lesions of mastocytosis. Mastocytosis includes a heterogeneous group of diseases characterized by the proliferation and abnormal infiltration of mast cells. Rubbing of cutaneous lesions leads to the release of histamine, causing the lesions to urticate. Juvenile xanthogranuloma and mastocytosis skin lesions occurring concurrently is extremely rare, with only four cases reported. Ocular juvenile xanthogranuloma and cutaneous lesions of mastocytosis have never been described in the same patient in the literature. The authors describe a patient with an ocular juvenile xanthogranuloma presenting at birth with cutaneous mastocytosis developing several years later.
J Pediatr Ophthalmol Strabismus 2014 Dec 12
PMID:Presumed ocular juvenile xanthogranuloma and biopsy-proven cutaneous mastocytosis occurring sequentially in a young boy. 2549 Feb 41