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2014 ; 93
(24
): 318-332
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Redefining dermatomyositis: a description of new diagnostic criteria that
differentiate pure dermatomyositis from overlap myositis with dermatomyositis
features
#MMPMID25500701
Troyanov Y
; Targoff IN
; Payette MP
; Raynauld JP
; Chartier S
; Goulet JR
; Bourré-Tessier J
; Rich E
; Grodzicky T
; Fritzler MJ
; Joyal F
; Koenig M
; Senécal JL
Medicine (Baltimore)
2014[Nov]; 93
(24
): 318-332
PMID25500701
show ga
Dermatomyositis (DM) is a major clinical subset of autoimmune myositis (AIM). The
characteristic DM rash (Gottron papules, heliotrope rash) and perifascicular
atrophy at skeletal muscle biopsy are regarded as specific features for this
diagnosis. However, new concepts are challenging the current definition of DM. A
modified Bohan and Peter classification of AIM was proposed in which the core
concept was the inclusion of the diagnostic significance of overlap connective
tissue disease features. In this clinical classification, a DM rash in
association with myositis in the absence of overlap features indicates a
diagnosis of pure DM. However, overlap features in association with myositis
allow a diagnosis of overlap myositis (OM), irrespective of the presence or
absence of the DM rash. Perifascicular atrophy may be present in both pure DM and
OM. Recently, the presence of perifascicular atrophy in myositis without a DM
rash was proposed as diagnostic of a novel entity, adermatopathic DM. We
conducted the present study to evaluate these new concepts to further
differentiate pure DM from OM.Using the modified Bohan and Peter classification,
we performed a follow-up study of a longitudinal cohort of 100 consecutive adult
French Canadian patients with AIM, including 44 patients with a DM phenotype,
defined as a DM rash, and/or DM-type calcinosis, and/or the presence of
perifascicular atrophy on muscle biopsy. A detailed evaluation was performed for
overlap features, the extent and natural history of the DM rash, adermatopathic
DM, DM-specific and overlap autoantibodies by protein A immunoprecipitation on
coded serum samples, and associations with cancer and survival.Two distinct
subsets were identified in patients with a DM phenotype: pure DM (n = 24) and OM
with DM features, or OMDM (n = 20). In pure DM, the DM rash was a dominant
finding. It was the first disease manifestation, was always present at the time
of myositis diagnosis, and was associated with a high cutaneous score and
chronicity. Concurrent heliotrope rash and Gottron papules (positive predictive
value [PPV] 91%), as well as the V-sign and/or shawl sign (PPV 100%), were
diagnostic of pure DM. Anti-Mi-2, anti-MJ, and anti-p155 autoantibodies were
present in 50% of pure DM patients and were restricted to this subset (PPV 100%).
Cancer was present in 21% of pure DM patients. The 15-year survival was excellent
(92%).In contrast, in patients with OMDM, the first manifestation was proximal
muscle weakness or other skeletal muscle-related complaints. The DM rash appeared
at diagnosis or at follow-up, was associated with a low cutaneous extent score
and was transient. Adermatopathic DM, which was absent in pure DM, was highly
predictive (PPV 100%) of OMDM. Overlap autoantibodies (including anti-Jo-1,
anti-PL-7, anti-PM-Scl, anti-U1RNP, and/or anti-U5-RNP) were found in 70% of OMDM
patients. OMDM was not associated with cancer, but the 15-year survival was
significantly decreased (65%).Perifascicular atrophy occurred as commonly in OMDM
(n?=?6/20, 30%) as in pure DM (n?=?4/24, 17%) patients. These 6 OMDM patients had
adermatopathic DM at myositis diagnosis, and only 1 of them developed a DM rash
at follow-up, emphasizing the lack of specificity of perifascicular atrophy for
pure DM.In conclusion, using the modified Bohan and Peter classification of AIM
allowed identification of OMDM, a new clinical subset of OM. Furthermore,
identification of OMDM allowed recognition of pure DM as a new entity that was
distinct from OMDM or from OM without DM features. However, the absolute
specificity of a DM rash and perifascicular muscle atrophy for the diagnosis of
pure DM was lost. The distinctive clinical manifestations and autoantibody
profiles presented are proposed as diagnostic criteria to differentiate pure DM
from OMDM.