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Sarcoidosis in a young child with Alagille syndrome: a case report.

ABSTRACT: We report a now 6-year-old African-American male with both Alagille syndrome and pediatric sarcoidosis. With a prior JAG1 mutation positive diagnosis of Alagille syndrome, he presented to the hospital with a subacute, predominantly respiratory febrile condition, eventually diagnosed as sarcoidosis. A liver biopsy revealed paucity of bile ducts and scattered epithelioid granulomas, while a skin biopsy showed granulomatous angiitis, a manifestation of sarcoidosis not yet reported in a pediatric patient. He has subsequently been treated with corticosteroids, mycophenolate mofetil, and infliximab with clinical response. Alagille syndrome and sarcoidosis have not yet been reported in the medical literature in the same patient to the best of our knowledge. We briefly review these two seemingly unrelated conditions and propose a possible common pathogenic mechanism.

SUBMITTER: Mannion M

PROVIDER: S-EPMC3599400 | biostudies-other | 2012

REPOSITORIES: biostudies-other

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Sarcoidosis in a young child with Alagille syndrome: a case report.

Mannion Melissa M Zolak Mem M Kelly David R DR Beukelman Timothy T Cron Randy Q RQ

Pediatric rheumatology online journal 20120831 1

We report a now 6-year-old African-American male with both Alagille syndrome and pediatric sarcoidosis. With a prior JAG1 mutation positive diagnosis of Alagille syndrome, he presented to the hospital with a subacute, predominantly respiratory febrile condition, eventually diagnosed as sarcoidosis. A liver biopsy revealed paucity of bile ducts and scattered epithelioid granulomas, while a skin biopsy showed granulomatous angiitis, a manifestation of sarcoidosis not yet reported in a pediatric pa ...[more]

PMID: 22937766

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Project description:IntroductionSarcoidosis is a common, multisystemic non-caseating granulomatous disease of unknown etiology with cutaneous lesions present in about one-fourth of patients. Darier Roussy sarcoidosis is a rare variant of sarcoidosis with distinct cutaneous presentation characterized by multiple deep-seated nodules on the trunk and extremities which could either be asymptomatic or may present mild tenderness.Case presentationA case of 35 yrs male with cough and fever for 3 months was initially diagnosed as a case of tubercular lymphadenitis and started with ATT following which ATT-associated cutaneous adverse drug reaction was suspected due to development of rashes with generalized redness and mild itching a few weeks after starting ATT. He then developed multiple, skin-colored, deep-seated, subcutaneous lesions over the legs then over the arms, forearms, thigh, and trunk. FNAC and histopathological examination of the lesions revealed non-caseating granulomas composed localized to the subcutaneous tissue. A diagnosis of subcutaneous sarcoidosis was made. Subsequently, steroid therapy was started.DiscussionClinical manifestations of sarcoidosis range from asymptomatic (mostly) to progressive and relapsing disease. A family history of the disease raises the risk; those with one afflicted first-degree relative face a 3.7-fold increase in risk. Sarcoidosis is diagnosed based on three key criteria: a consistent clinical presentation, the discovery of non-necrotizing granulomatous inflammation in one or more tissue samples with confirmed histology, and the elimination of other origins of granulomatous disorders. . Diagnosis should be confirmed with a biopsy of the lesion, with the histological finding of non-caseating granuloma.ConclusionClinically localized subcutaneous sarcoidosis can be confused with ATT induced drug reaction due to the difficulties in diagnosing granulomatous skin disease. The prognosis is good with subcutaneous disease and if there are no disfiguring skin lesions or other critical organ involvement, corticosteroid therapy might suffice.

Dataset Information

Sarcoidosis in a young child with Alagille syndrome: a case report.

Publications

Sarcoidosis in a young child with Alagille syndrome: a case report.

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