Blaus syndrom hos enæggede tvillinger

Nils Milman; Annette Hansen; Thomas Van Overeem Hansen; Keld Erik Byg; Ole Haagen Nielsen; Niels Jacob Eifer Møller; Nicoline Marie Hall; Carsten Utoft Nieman

Blaus syndrom hos enæggede tvillinger

Nils Milman^*, Annette Hansen, Thomas Van Overeem Hansen, Keld Erik Byg, Ole Haagen Nielsen, Niels Jacob Eifer Møller, Nicoline Marie Hall, Carsten Utoft Nieman

^*Corresponding author af dette arbejde

Institut for Klinisk Medicin

2 Citationer (Scopus)

Abstract

This case report describes Blau syndrome in monozygotic twins. The disease ran an identical course in both patients, starting with a maculopapulous exanthema at one year of age. Skin biopsies showed epithelioid cell granulomas with multinucleated giant cells. Shortly after arthritis and periarticular swelling developed and uveitis appeared at 8 years of age. Treatment consisted of prednisolone and methotrexate, and from 18 years of age of infliximab, with good effect. DNA analysis showed de novo R334W mutation in the CARD15 gene. The patients have now been followed for 19 years and are in good clinical condition.

Bidragets oversatte titel	Blau syndrome in twins
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	168
Udgave nummer	42
Sider (fra-til)	3631-3633
Antal sider	3
ISSN	0041-5782
Status	Udgivet - 16 okt. 2006

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Citationsformater

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title = "Blaus syndrom hos en{\ae}ggede tvillinger",

abstract = "This case report describes Blau syndrome in monozygotic twins. The disease ran an identical course in both patients, starting with a maculopapulous exanthema at one year of age. Skin biopsies showed epithelioid cell granulomas with multinucleated giant cells. Shortly after arthritis and periarticular swelling developed and uveitis appeared at 8 years of age. Treatment consisted of prednisolone and methotrexate, and from 18 years of age of infliximab, with good effect. DNA analysis showed de novo R334W mutation in the CARD15 gene. The patients have now been followed for 19 years and are in good clinical condition.",

author = "Nils Milman and Annette Hansen and Hansen, {Thomas Van Overeem} and Byg, {Keld Erik} and Nielsen, {Ole Haagen} and M{\o}ller, {Niels Jacob Eifer} and Hall, {Nicoline Marie} and Nieman, {Carsten Utoft}",

year = "2006",

month = oct,

day = "16",

language = "Dansk",

volume = "168",

pages = "3631--3633",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "42",

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TY - JOUR

T1 - Blaus syndrom hos enæggede tvillinger

AU - Milman, Nils

AU - Hansen, Annette

AU - Hansen, Thomas Van Overeem

AU - Byg, Keld Erik

AU - Nielsen, Ole Haagen

AU - Møller, Niels Jacob Eifer

AU - Hall, Nicoline Marie

AU - Nieman, Carsten Utoft

PY - 2006/10/16

Y1 - 2006/10/16

N2 - This case report describes Blau syndrome in monozygotic twins. The disease ran an identical course in both patients, starting with a maculopapulous exanthema at one year of age. Skin biopsies showed epithelioid cell granulomas with multinucleated giant cells. Shortly after arthritis and periarticular swelling developed and uveitis appeared at 8 years of age. Treatment consisted of prednisolone and methotrexate, and from 18 years of age of infliximab, with good effect. DNA analysis showed de novo R334W mutation in the CARD15 gene. The patients have now been followed for 19 years and are in good clinical condition.

AB - This case report describes Blau syndrome in monozygotic twins. The disease ran an identical course in both patients, starting with a maculopapulous exanthema at one year of age. Skin biopsies showed epithelioid cell granulomas with multinucleated giant cells. Shortly after arthritis and periarticular swelling developed and uveitis appeared at 8 years of age. Treatment consisted of prednisolone and methotrexate, and from 18 years of age of infliximab, with good effect. DNA analysis showed de novo R334W mutation in the CARD15 gene. The patients have now been followed for 19 years and are in good clinical condition.

UR - http://www.scopus.com/inward/record.url?scp=33750843210&partnerID=8YFLogxK

M3 - Tidsskriftartikel

C2 - 17069729

AN - SCOPUS:33750843210

SN - 0041-5782

VL - 168

SP - 3631

EP - 3633

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 42

ER -

Blaus syndrom hos enæggede tvillinger

Abstract

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