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SHORT COMMUNICATION
Blau Syndrome: Report of a Rare Entity with Congenital Ostium Secundum Atrial Septal Defect in
a 7-year-old Chinese Girl
Xian-hong YANG 1 , Lin LIN 2 , Jian-fang SUN 1 and Yi-qun JIANG 1 *
1
Department of Dermatopathology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College,
Nanjing 210042, China, and 2 Departments of Dermatology & Pathology, SUNY at Buffalo, School of Medicine and Biomedical Sciences,
Buffalo Medical Group PC. *E-mail: [email protected]
Accepted May 22, 2019; E-published May 23, 2019
Blau syndrome (BS) is a rare monogenic disease caused
by mutation of the NOD2/CARD15 gene (1–3) and is
clinically characterized by the triad of skin, joint, and
eye disorders (4). We report a case of Blau syndrome
with c.1000C>T (R334W) mutation in NOD2 gene in a
7-year-old Chinese girl. She also presented with a con-
genital ostium secundum atrial septal defect which has
not been previously reported.
CASE REPORT
A Chinese girl initially presented to our clinic with
generalized lichenoid papules over the face, trunk and
limbs with moderate itching when she was 10 months
old (Fig. 1a–c). Biopsy was taken 6 months later and
revealed non-caseating granulomas admixed with scant
lymphocytic infiltrate. Tuberculin skin test was negative.
Computed tomography (CT) suggested bilateral axillary
lymph node enlargement and a large pericardium, how
ever, lung and hilar lymph nodes were negative. An
elevation of sACE was detected with 178 U/l (reference
range < 139 U/l). Echocardiography examination show
ed congenital ostium secundum atrial septal defect. She
was diagnosed with sarcoidosis and treated with oral
methylprednisolone at a dose of 4 mg (equivalent to
prednisone of 0.5 mg/kg/day). The lesions improved
significantly in 3 weeks, and the methylprednisolone
was tapered to 1 mg as maintenance. The lesions recur-
red after the oral corticosteroid was discontinued. At the
age of 4, she developed subcutaneous nodules starting
on her feet, hands, and gradually involving the joints of
ankles, wrists and elbows, as well as the back of hands
and feet. During follow-up at 7 years of age, the girl
presented with ocular manifestation of impaired vision
(OD0.02+, OS0.6+). The ophthalmological examination
revealed granulomatous anterior uveitis in the patient’s
eyes bilaterally and old retinal vasculitis of the right.
She has been treated with oral methylprednisolone at a
dose of 40 mg/day and methotrexate 8.75 mg/week. No
pulmonary symptoms were noted. No familial history of
similar disease was present.
Dermatological examination showed numerous 1–2
mm, lichenoid erythematous papules covering the face,
trunk and extremities. Subcutaneous nodules were
found over the affected joints of wrists and ankles
(Fig. 1d). MRI and ultrasonography showed abnormal
signal in bilateral ankles, dorsum and sole of feet with
unaffected bones. Multiple biopsies were performed
and showed non-caseating granulomas admixed with
scant lymphocytic infiltrate (Fig. 2). Gene sequencing
revealed that the patient had a heterozygous c.1000C>T
(p.R334W) mutation in NOD2. Altogether, the clinical
and histological findings were consistent
with Blau syndrome, which was further
confirmed by the mutational analysis of the
NOD2 gene.
DISCUSSION
Fig. 1. Clinical examination showed numerous 1–2 mm, lichenoid papules over the
trunk (a, b), limbs (c) and subcutaneous mass over the affected joint (d).
Blau syndrome is a rare, autosomal domi-
nant, and granulomatous autoinflammatory
disease, first described by Blau in 1985 (5).
The most common initial features are granu-
lomatous dermatitis with exanthema and joint
involvement with granulomatous arthritis/
periarthritis, while eye symptoms with gra-
nulomatous uveitis often start later, between
7 and 12 years of age (6). Other organs may
be involved sporadically. Miceli-Richard et
al. identified the responsible gene, the caspase
recruitment gene, NOD2, which mapped to
chromosomal region 16q12.1-13 in 2001 (7).
This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta
Journal Compilation © 2019 Acta Dermato-Venereologica.
doi: 10.2340/00015555-3222
Acta Derm Venereol 2019; 99: 923–924