Blau syndrome at a tertiary care center of Eastern India: Two case reports and review of literature

Abstract

BACKGROUND

Blau syndrome (BS) is a rare sporadic or autosomal dominant multi-system inflammatory condition attributable to mutations in the nucleotide binding oligomerization domain containing 2 gene. It classically manifests as a triad of skin rash, uveitis and arthritis, although the phenotype may vary and pose diagnostic dilemmas in the presence of systemic co-morbidities.

CASE SUMMARY

We describe two sporadic cases with different clinical profiles. Case 1: A 5-year-old male presented with a history of erythematous skin lesions all over the body since the age of 6 months and recurrent fever and knee and wrist joint pains for the past year, associated with progressive diminution of vision. He had dry, scaly skin, malar erythema and bilaterally swollen wrist, ankle and knee joints, bilateral band-shaped keratopathy, and bilateral post-uveitis cataracts. Case 2: An 11-year-old male previously diagnosed with polyarticular juvenile idiopathic arthritis, tubulointerstitial nephritis, seizure disorder, restrictive lung disease, and multidrug-resistant pulmonary tuberculosis, presented with bilateral granulomatous uveitis. Fundus examination of the right eye showed fibrovascular proliferation over the disc secondary to retinal vasculitis and exudative shallow retinal detachment. Both patients were diagnosed with BS and treated with corticosteroids and adalimumab, leading to improvement in systemic and ocular symptoms over the next 2 years. Case 1 underwent bilateral cataract surgery with a good visual outcome.

CONCLUSION

The diagnosis of BS is important to consider in very young children with arthritis and uveitis. Timely interdepartmental referral and collaboration is prudent. Prompt multidisciplinary management is required to prevent significant morbidity.

Key Words: Blau syndrome; Juvenile idiopathic arthritis; Uveitis; Ocular sarcoidosis; Ocular tuberculosis; Case report

Core Tip: Blau syndrome (BS) manifests as uveitis, arthritis, and skin rash, and although rare, is an important consideration in children with such manifestations. It may pose a diagnostic dilemma in the presence of systemic comorbidities. A multidisciplinary approach leads to management of this condition with satisfactory outcomes. The present series describes the presentation, diagnosis, and management of two sporadic cases of BS.

INTRODUCTION

Blau syndrome (BS), also known as juvenile systemic granulomatosis, is a monogenic disease resulting from gain-of-function mutations in the pattern recognition receptor nucleotide binding oligomerization domain containing 2 (NOD2) and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis, and uveitis[1]. Skin rash is the first symptom to appear, usually in infants. Between the ages of 2 and 4 years, a boggy polyarthritis is observed. Finally, uveitis develops in 60%-80% of patients at about 48 months of age[2]. BS can mimic juvenile idiopathic arthritis (JIA) associated uveitis, rheumatoid arthritis, and ocular tuberculosis (TB) or sarcoidosis.

Previous reports have noted a paucity of literature on the ocular manifestations of BS from the Asian Indian population[3]. Most of the reports are accounts of individual cases or small case series[4-14] (Table 1). Here, we present two sporadic cases of BS with varied clinical profiles from a tertiary care center in East India with satisfactory outcomes obtained by a multidisciplinary approach, highlighting its varied presentation, clinical course, and management.

Table 1 Major case reports of Blau syndrome in the Indian population.

Ref.	Region	Number of cases	Unique features	Disease progression pattern	Mainstay immunosuppressive treatment	Remark
Jain et al[4], 2018	East	1	Vitreous hemorrhage without vascular abnormalities, hepato-splenomegaly	Therapeutic vitrectomy led to remission of ocular disease despite waxing and waning systemic disease	Oral steroids and methotrexate	Novel mutation in helical domain 2 of NOD2 in sporadic BS discovered
Naik et al[5], 2018	South	1	Child born out of second-degree consanguineous marriage but no genetic mutations typical of BS found	Recurrent uveitis and arthritis, but maintaining normal visual acuity since remission	Adalimumab monotherapy (after failure of topical steroids, systemic steroids, methotrexate, and infliximab)	First case of sporadic BS in India with long follow-up on adalimumab monotherapy
Janarthanan et al[6], 2019	South	3	First molecularly confirmed report of familial BS from India	Recurrent episodes with residual joint deformities	Systemic steroids, methotrexate, topical non-steroidal anti-inflammatory drugs
Babu et al[7], 2021	South	7	Keratoconjunctivitis sicca, conjunctival granulomas, subepithelial corneal opacities, subretinal granuloma	Recurrent episodes with but with good visual prognosis	Oral steroids, methotrexate, mycophenolate mofetil	Largest case series at that time
Babu et al[8], 2025	South	10		Almost 4/5ths of the patients had no inflammation at last follow-up	Oral steroids, methotrexate, mycophenolate mofetil, adalimumab, tofacitinib, infliximab and combinations of biologic agents including canakinumab
Baisya et al[9], 2023	South	5	Fever, lymphadenopathy, serositis, organomegaly, subcutaneous nodule	Patients responded well (details not mentioned)	Oral steroids, methotrexate	Familial BS in 3 families
Jindal et al[10], 2021	North	1	Disseminated granulomas in liver and kidneys. Unique sequence and timing of organ system involvement: Symmetric polyarthritis at 3 years of age, granulomatous uveitis at 13 years of age, disseminated granulomas in liver and kidneys at 21 years of age	Persistent splenomegaly and thrombocytopenia, leucopenia, and anemia despite treatment and follow-up of 20 years	Adalimumab
Banday et al[11], 2022	North	2	No uveitis at presentation of child	Remained well at follow-up	Methotrexate	Grandmother, mother and child affected
Kumrah et al[12], 2022	North	11	Chronic kidney disease, nephrotic range proteinuria	Progressive and refractory to treatment, leading to residual joint deformities	Methotrexate, adalimumab, azathioprine, mycophenolate mofetil, leflunomide
Nagpal and Singh[13], 2024	North	1		Good vision in operated and unoperated eye	oral corticosteroids and methotrexate	Biopsy refused. Genetic screening of family members not done due to constraints.
Sharma et al[14], 2025	North	3	Bilateral small vessel Retinal vasculitis in all cases	One of the cases had very late onset of uveitis at 28 years of age, without history of arthritis or dermatitis	Not reported	Retinal vasculitis reported as a rare phenotype of BS
Present report	East	2	One case had typical manifestations. The other had history of tubulointerstitial nephritis, seizure disorder, restrictive lung disease, and multi-drug-resistant tuberculosis, and developed uveitic sequelae post-cataract surgery, oral ulcers, retinal vasculitis and exudative shallow retinal detachment	Waxing and waning course of systemic and intraocular inflammation, however, with fair visual outcome but loss to follow up	Adalimumab with steroid therapy as initial bridge; intra-articular Triamcinolone acetate after withdrawal of methotrexate due to adverse effects	Detailed ocular examination and treatment course mentioned in detail. Ultrasonography of joints, biopsy and genetic testing refused due to constraints

The classic triad of dermatitis, arthritis, and uveitis was observed in all patients unless otherwise stated. BS: Blau syndrome.

CASE PRESENTATION

Chief complaints

Case 1: A 5-year-old male child presented to the pediatric rheumatologist with fever and recurrent knee and wrist joint pains for the past year, which worsened in the past month. He also complained of gradually progressive diminution of vision with intermittent redness and pain in both eyes for the past week.

Case 2: An 11-year-old boy presented to the pediatric rheumatologist with fever on and off for the past 2 months and difficulty breathing for the past 10 days.

History of present illness

Case 1: The parents reported that the fever was low-grade and resolved on taking over-the-counter medicines, only to recur again without any specific interval. The joint pains were accompanied by mild swelling of the joints.

Case 2: The child’s mother informed that the child had had multiple similar episodes in the past but none in the preceding 4 years.

History of past illness

Case 1: The child’s father informed that the patient had had erythematous skin lesions all over the body since the age of 6 months.

Case 2: The parents reported that at 6 months of age, the child had bilateral nodular swelling of ankles and wrists, and at 1-year, bilateral swelling of knees and ankles. At 3 years of age, he developed high fever with cough associated with fast breathing. An acute episode of tubulointerstitial nephritis, seizure disorder, and restrictive lung disease was documented in the medical records. A synovial biopsy had been performed, and the child was diagnosed with polyarticular JIA. Oral prednisolone acetate (1 mg/kg body weight) was given intermittently for the same for 3 years. High-resolution computed tomography of the chest at follow-up had revealed consolidation with collapse and nodular infiltration and scarring suggestive of pulmonary TB. Culture of bronchoalveolar lavage grew multi-drug resistant TB. He received therapy for extrapulmonary TB for 2 years followed by oral methotrexate (10 mg/m²/dose) with folic acid 5 mg weekly and prednisolone acetate (1 mg/kg/day) for the next 2 years. The child developed diminution of vision due to bilateral uveitis a year later. He further underwent bilateral phacoemulsification with posterior chamber intraocular lens implantation after synechiolysis with posterior capsulorhexis followed by membranectomy and trabeculectomy in left eye (oculus sinister [OS]). Vision of 6/18 in both eyes (oculus uterque [OU]) post cataract surgery was retained for 1 year post-operatively, after which the child was lost to follow-up for the next 4 years.

Personal and family history

Case 1 and Case 2: There was no significant family history of any other systemic illnesses, and no history of similar illness in grandparents, parents, or siblings. Both children had been delivered full term and had attained developmental milestones according to age. Personal history was unremarkable in both patients, with normal bowel and bladder habit, no addictions, and normal sleep and appetite.

Physical examination

Case 1: Systemic examination showed dry, scaly skin, malar erythema. and bilaterally swollen but nontender wrist, ankle, and knee joints (Figure 1). Ophthalmic examination showed presenting uncorrected visual acuity (UCVA) of 6/30 OU using Cardiff’s cards at a working distance of 50 cm, not improving with refractive correction. Digitally, the intraocular pressures (IOP) seemed normal in both eyes. Ocular examination showed bilateral band-shaped keratopathy (BSK), 2+ anterior chamber cells, festooned pupils, posterior synechiae and complicated cataracts (Figure 2).

Figure 1 Systemic findings in case 1 boggy arthritis. A: Bilateral ankles; B: Bilateral wrists; C: Bilateral knee joints; D: Associated skin lesions.

Figure 2 Ocular findings in case 1 slit lamp photograph showing band-shaped keratopathy in the right eye. A: Pre-chelation; B: Post-chelation with ethylene diamine tetraacetate, showing festooned pupil with posterior synechiae and cataract; C: Left eye festooned pupil with posterior synechiae; D: Intraoperative photograph of left eye phacoaspiration.

Case 2: The child looked ill with nasal flare, soft palpable bilateral axillary lymph nodes, and deformities of the hands and feet. On ophthalmic examination, UCVA in the right eye (oculus dexter [OD]) was 1/60, improving to 2/60 with pinhole, and OS 6/36, not improving with pinhole. The IOP by noncontact tonometry was 9 mmHg OD and 20 mmHg OS. OD had leucomatous corneal opacity with superficial vascularization, optic capture in the superior quadrant with one haptic in the anterior chamber, significant iris atrophy, posterior synechiae, and hyphema. Fundus examination OD showed hazy media, a vertical cup disc ratio of 0.4:1 with mild disc pallor and vitreous condensation. The peripheral fundus could not be visualized. OS showed occlusio pupillae, a patent peripheral iridectomy, and a flat bleb. The posterior segment could not be viewed (Figure 3).

Figure 3 Ocular findings in case 2 slit lamp photograph. A: Leucomatous corneal opacity with superficial vascularization, optic capture superiorly with haptic in the anterior chamber, significant iris atrophy, posterior synechiae and hyphema in the right eye; B: Occlusio pupillae, 360 degrees’ posterior synechiae and a patent surgical peripheral iridectomy precluding the view of the posterior segment in the left eye.

Laboratory examinations

Case 1 and Case 2: Routine blood tests including total red blood cell and white blood cell count, erythrocyte sedimentation rate, C-reactive protein, liver function, random blood sugar, and antinuclear antibody tests, were within normal limits; serum angiotensin-converting enzyme and calcium levels were also found to be normal, and the Mantoux test was negative, as was interferon gamma release assay in Case 2. Despite counseling, parents of both patients did not consent to any biopsy, human leukocyte antigen typing, or genetic testing for NOD2 variants citing financial constraints.

Imaging examinations

Case 1: B-scan ultrasonography OU revealed bilateral vitritis with no evidence of retinal or choroidal detachment. Axial length was 22.14 mm in both eyes. The retina-choroid-sclera complex was within normal limits.

Case 2: B-scan ultrasonography OU revealed an anechoic vitreous cavity with no retinal or choroidal detachment. Axial length was 23.13 mm OD and 23.74 mm OS. The retina-choroid-sclera complex appeared thick, measuring 1.24 mm in OD and 1.16 mm in OS. Parents of both patients refused ultrasonography of the joints citing financial constraints.

MULTIDISCIPLINARY EXPERT CONSULTATION

Multidisciplinary expert consultation between the ophthalmologists and pediatric rheumatologist considered the dermatological, ophthalmic, and arthritic manifestations in both patients. A provisional diagnosis of BS was made. Differential diagnoses were Behçet’s Disease (systemic autoimmune vasculitis associated with HLA-B*51 allele)-considered less likely on the basis of younger age, absence of genital ulcers and lower grade of intraocular inflammation in our patients-and Yao syndrome (systemic autoinflammatory disease with fever, joint pain, and skin rashes mimicking BS except for a variant NOD2 gene mutation), excluded on the basis of the younger age of our patients, absence of gastrointestinal complaints and no evidence of sicca syndrome[15,16]. Systemic TB, sarcoidosis and JIA were the other differentials considered, but ruled out on the basis of clinical and laboratory findings.

FINAL DIAGNOSIS

A clinical diagnosis of BS was made in both patients. Parents and siblings of both patients were examined and showed no evidence of any autoimmune disorder; hence, the inheritance was deemed to be sporadic in both cases.

TREATMENT

Case 1

The child was initiated on 1% prednisolone acetate eye drops 4 times/day and 1% atropine sulphate eye drops 3 times/day. The pediatric rheumatologist prescribed intravenous methylprednisolone 400 mg in 250 mL normal saline for 3 days, subcutaneous injection methotrexate 7.5 mg (10 mg/m²/dose) weekly, oral prednisolone acetate 25 mg once daily post meal, folic acid 5 mg once a week and naproxen 5 mg/kg of body weight twice daily. Bilateral ethylene-diamine-tetra-acetate (EDTA) chelation was carried out for BSK after control of intraocular inflammation, after which he was discharged.

Case 2

The child was admitted to the pediatric rheumatology ward and administered subcutaneous injections of adalimumab 0.4 mL (40 mg/0.8 mL) weekly. He was followed up after 1 month and started on oral prednisolone 40 mg once daily (1 mg/kg/day) to be tapered weekly, syrup levetiracetam 4 mL twice daily (100 mg/mL, 40 mg/kg/day), and vitamin D₃ 0.25 mg once daily.

The patient was started on topical 1% prednisolone acetate and 2% homatropine eye drops OU. At 2 weeks, UCVA improved to 5/60 OD and 6/18 OS, and at 3 months, 6/24 OD and 6/12 OS. Injection methotrexate was also started but withheld at 3 months due to adverse effects of epistaxis and neutropenia which required hospitalization. Triamcinolone acetate 40 mg was injected in both knees under ultrasound guidance for the patient’s arthritic symptoms at this visit, following which he was discharged.

Both children were also advised to use masks in crowded public places in view of ongoing immunosuppressive treatment. Their parents were counselled about their condition with advice to follow up in the uvea clinic for visual acuity assessment, IOP measurement and complete ocular examination for recurrent uveitis, and with the pediatric rheumatologist for control of their systemic condition.

OUTCOME AND FOLLOW-UP

Case 1

The patient later underwent phacoaspiration with single-piece hydrophobic foldable posterior chamber intraocular lenses and peripheral iridectomy under general anesthesia in the right eye (OD) followed by the left eye (OS) 1 month later. He recovered a best corrected visual acuity (BCVA) of 6/24 N18 OD and 6/19 N12 OS (by Cardiff’s visual acuity test). Executive bifocals were prescribed, immunosuppressive therapy continued and the child was asked to review after 1 month.

However, the patient was lost to follow-up and reviewed 2 years later with recurrence of systemic features and BCVA of 6/36 OD and 6/9 OS. Examination revealed bilateral anterior uveitis with patent peripheral iridotomy and early BSK OS. Digitally, IOP appeared raised. He was started on subcutaneous injection adalimumab 20 mg (0.4 mL) fortnightly with eye drops 1% prednisolone acetate hourly, 0.5% timolol maleate twice, 2% homatropine thrice and 0.5% carboxymethylcellulose four times daily in both eyes.

Within 2 weeks, the BCVA and systemic features had improved. However, the child developed recurrent anterior uveitis in OS at 1.5 months after the initial dose of adalimumab. Oral prednisolone acetate was added, 10 mg twice a day after meals, followed by fortnightly tapering. After 2 months, the patient’s vision had dropped to OD 6/30 and OS 6/24 by Cardiff’s visual acuity testing. He underwent membranectomy with EDTA chelation OS with guarded visual prognosis 1 month later under cover of oral steroids. The final UCVA was 6/19 OU, improving to 6/9 N8 with spectacle correction.

Case 2

The patient was readmitted after 5 months for oral mucosal ulcers and received an injection of methotrexate 9 mg stat (10 mg/m²) with leucovorin rescue. Three doses of adalimumab (20 mg/0.4 mL) were administered subcutaneously at monthly intervals over the next 3 months. Fundus examination OD during this period revealed media haze with fibrovascular proliferation over the disc secondary to retinal vasculitis and exudative shallow retinal detachment (sparing the superior quadrant), which was confirmed by ultrasonography B-scan examination and optical coherence tomography (Figure 4). B-scan OS revealed an anechoic vitreous cavity, an intact retina-choroid-sclera complex, and a normal optic nerve head. Topical prednisolone and homatropine eye drops were restarted in OD, after which the clinical condition gradually improved. Two months later, the child suddenly developed painful bilateral foot ulcers on the lateral aspects of the soles, which were initially small (approximately 1 cm) but later became matted and enlarged (Figure 5) with associated serous discharge, gradually resolving with medication. He also developed a dry cough. The child was again lost to follow-up before complete resolution of the chronic uveitis.

Figure 4 Ocular investigations in case 2 ultrasonography B-scan. A: Right eye revealing shallow retinal detachment; B: Left eye showing intraocular lens echoes, anechoic vitreous cavity, intact retina-choroid-sclera complex and normal optic nerve head; C: Optical Coherence Tomography of the right eye macula showing a large neurosensory retinal detachment.

Figure 5 Systemic findings in case 2 bilateral foot ulcers on the lateral aspect of the soles, sudden in onset; initially small (approximately 1 cm in size) blister which gradually got matted to form large bullae. A: Right foot showing more hypopigmentation; B: Left foot; C: Associated deformities of the hands; D: Bilateral boggy swelling of knees.

DISCUSSION

The earliest description of BS in 1985 was that of a familial granulomatous illness of the skin, joints, and eyes affecting 11 family members over four generations[17]. Early-onset sarcoidosis is a misnomer occasionally used to describe the illness when it manifests sporadically. The median age of onset of the illness is about 2 years, while ocular manifestations are seen at a median age of 4.4 years[3]. Initially, BS was reported majorly in Caucasians[18], but the condition is now increasingly being reported in other ethnicities as well-including the Indian and Chinese population. An account of cases of BS reported from India is provided in Table 1.

BS usually manifests with a classic triad. Skin rash is the most common manifestation in infancy[1]. While the majority of patients with BS experience uveitis by the age of four, arthritis follows between two and four years of life. The rash, usually thin, erythematous and maculopapular is a common early presentation, although it can also occasionally be dry and scaly. The arthritis is usually non-destructive, nontender and boggy, affecting the knees, wrists, and proximal interphalangeal joints of hands[19,20]. In the absence of prompt medical therapy, uveitis (which is initially posterior) eventually transforms into panuveitis, usually leading to considerable morbidity[21,22].

The spectrum of presenting features of BS varies, and most of these cases present to the rheumatologist when associated with systemic manifestations[7]. Fever and other systemic symptoms may be seen in almost half of all patients, as in our cases[19]. This condition is frequently linked to systemic diseases like nephrolithiasis, which causes severe renal damage from high calcium intake[23]. Non-caseating granulomas in the afflicted tissues are another characteristic of the disease, leading to diagnostic dilemmas. Prominent tenosynovitis on ultrasonography has been recently described as useful diagnostic sign for BS, especially in children with presumed JIA[11,20].

Associated ocular abnormalities due to chronic uveitis include BSK, a chronic degenerative disorder characterized by the development of grey opacification of the superficial cornea due to calcium deposition in confluent areas with scattered holes (Swiss-cheese appearance) as in our Case 1[24]. BS can also manifest as peripapillary nodules, disc edema, or disc pallor[25]. In a South Indian case series, there were six cases of keratoconjunctivitis sicca, three cases each of granulomatous panuveitis, anterior uveitis and conjunctival granulomas, one case of subepithelial corneal opacities and one case of subretinal granuloma, apart from cataract and BSK[7]. Retinal vasculitis and retinal detachment have also been reported as rare manifestations of BS, as in our Case 2[14,25].

Various mutations can alter the expression of the NOD2 gene and lead to different autoimmune disorders with varying presenting features[12]. Mutations associated with the ATP/Mg⁽²⁺⁾-binding site and helical domains of the central nucleotide-binding domain have been largely implicated in these disorders, affecting nuclear factor kappa-B signaling[26]. In BS, the p.Arg334Trp (p.R334W) missense mutation is the most common, while R334Q, R334W, E383G, E383K, R426H, and T605P mutations are the most destabilizing[27,28]. A case series from India reported NOD2 exon 4 mutations in 3 families-c.1000C>T (p.Arg334Trp), c.1147G>A (p.Glu383 Lys) and c.1324C>T (p.Lys442Phe), each with different predominant manifestations[9]. Other associated mutations include E600K, Y563S, and M513T[19]. Cases of BS with NOD2 variants may present with varied cutaneous changes, including lichenoid or granulomatous papules and nodules, dermatitis, chronic urticaria, ichthyosiform eruptions, vasospastic disorders, and oral ulcers, as in the second case[29]. Retinal vasculitis, as observed in our second case, has been reported as a rare manifestation in familial BS linked to the p.R334W variant[14]. Genetic testing is expensive and time-consuming, and may not be resorted to due to various constraints[13]. Although not yet widely available, a test for flow cytometric expression of NOD2 protein has been recently developed as a screening tool for BS[30]. It has also been recently proposed that Propionibacterium acnes might determine the site of onset of inflammation in BS by reactivation of latent infection and intracellular proliferation[31].

The therapy consists of systemic and topical steroids along with disease-modifying anti-rheumatic drugs like methotrexate, but biologics are particularly beneficial in cases of severe intraocular inflammation[22]. Previous reports have highlighted successful control of intraocular inflammation with oral steroids and methotrexate, with the occasional addition of azathioprine, mycophenolate mofetil, leflunomide and hydroxychloroquine[32-35]. Cutaneous complications with methotrexate occur mostly in patients with risk factors for systemic toxicity and include skin-fold erosions, localized ulcers, epidermal necrosis or necrolysis, and erosions localized to psoriatic plaques, posing a diagnostic dilemma due to overlap with BS manifestations[33].

Biologic agents, typically tumor necrosis factor alpha (TNF-α) antagonists, are hence preferred in refractory non-infectious pediatric uveitis, as in BS[33,34,36]. In case the patient responds incompletely, a switch to another anti-TNF-α agent is warranted[37]. In our cases, adalimumab therapy was the cornerstone controlling systemic and ocular inflammation, with initial intensive steroids administered as a bridge. However, at present, there is no evidence to establish definite superiority of a particular agent for the management of uveitis in BS, and some reports have highlighted a role for therapeutic vitrectomy[4,29]. Interleukin 1 (IL-1) antagonists (anakinra, canakinumab) and IL-6 inhibitors (tocilizumab), as well as tofacitinib, are other biologic agents indicated in BS[36]. Future therapeutic options may include antibiotics against Propionibacterium acnes which may prevent relapses due to reactivation of latent infection[31]. As the pathophysiology of BS is being further elucidated by ongoing research worldwide, expert-driven treatment guidelines for BS are awaited to assist in evidence-based management of these patients.

In summary, the present report is the one of the few describing the clinical profile of sporadic cases of BS in East Indian patients[3]. Both cases improved on systemic steroids and adalimumab therapy. Timely detection and review assessments by the pediatric rheumatologist played a key role in the early management of the systemic disease. Prompt ophthalmic referral followed by meticulous diagnosis and management aided in effective response, reducing further morbidity. Limitations of the present case series include the absence of genetic analysis to look for NOD2 mutations due to the unavailability of this facility at our institute and financial limitations. In addition, ultrasonography of affected joints and histopathological examination of biopsy specimen could not be performed in our cases due to denial of consent.

CONCLUSION

BS remains an under-reported entity in India, and must be especially suspected when treating very young children with arthritis and uveitis, and when ophthalmic and rheumatological presentations suggest a diagnosis of JIA, or tubercular uveitis. Although it is important to elicit a proper family history and examine family members, BS may occur sporadically as well. Genetic counseling must be offered to the family if a child has been diagnosed with this entity. Timely interdepartmental referral and collaboration between pediatric rheumatologists and ophthalmologists is prudent. Prompt management with immunosuppressive pharmacotherapy and judicious surgical intervention are pertinent to avoid significant morbidity.