Nilesh Nolkha

Sexual dysfunctions and lower urinary tract symptoms in ankylosing spondylitis.

To determine sexual dysfunctions and urinary symptoms in male ankylosing spondylitis (AS) patients and their association with various disease and patient factors.

Arthritis and adult respiratory distress syndrome: unusual presentations of typhoid fever

A middle-aged woman presented with fever of 1-month duration along with bilateral knee joint pain, swelling and difficulty in walking for 2 weeks. The patients Typhidot test was positive for IgM antibodies. Her Widal test was negative, and blood culture and synovial fluid culture were sterile. She was started on ceftriaxone, to which her fever initially responded. However, after 4 days of treatment her disease course was complicated by relapse of fever and acute respiratory distress syndrome (ARDS). This settled with respiratory support and addition of azithromycin. Following recovery from ARDS and fever, her persistent knee arthritis responded to intra-articular methyl prednisolone instillation.

Arthritis in Stickler syndrome: Inflammatory or degenerative?

Dear Editor, Osteochondrodysplasias are a heterogeneous group collagenopathies with variable clinical picture, radiographic findings and genetic inheritance. Stickler syndrome is the most common collagenopathy which was first recognized by Stickler et al. in a family with ocular, orofacial and musculoskeletal abnormalities. It occurs due to mutations in COL2A1, COL11A1 or COL11A2 genes. Large joint premature osteoarthritis is a feature of this syndrome which occurs in teens and is quiet debilitating. We describe two sisters with Stickler syndrome-like features, who presented with inflammatory arthritis along with positive serological markers and radiographic changes mimicking juvenile idiopathic arthritis. Patient 1 was a 19-year-old woman, the third child of a consanguineous couple, presented with history of joint pains since the last 7 years. She experienced joint pains since the age of 12 involving bilateral metacarpophalangeal joints, wrist, elbow, shoulder and knee along with a morning stiffness of more than 30 min. Gradually she started developing flexion deformities of the hand joints. On examination she was not dysmorphic and had an average stature. She had moderate to severe sensorineural hearing loss since birth, and skeletal abnormalities such as hypertelorism, flat nasal bridge and pectus carinatum. Joint examination showed presence of tenderness and swelling of bilateral wrist joints with presence of flexion deformities (Fig. 1a). The rest of the systemic examination was unremarkable. Patient 1’s sister (Patient 2), aged 17 years had joint pains since the last 2 years, involving bilateral wrist, shoulder and metacarpophalangeal joints along with morning stiffness of more than 30 min. On examination she was not dysmorphic and had an average stature. She had moderate to severe sensorineural hearing loss since birth, bifid uvula and skeletal abnormalities such as hypertelorism, flat nasal bridge and pectus carinatum (Fig. 2a). Joint examination showed presence of tenderness and swelling of some proximal interphalangeal joints, metacarpophalangeal joints and bilateral wrist joints. The rest of the systemic examination was unremarkable. Neither of the patients had ocular findings, mental retardation or any features suggestive of hypermobility. Both the parents and other three siblings were normal and there was no other significant family history. Both the patients had raised erythrocyte sedimentation rate (Patient 1: 105 mm/h, Patient 2: 130 mm/h), positive C-reactive protein and positive rheumatoid factor. Anticyclic citrullinated peptide (anti-CCP) antibody was positive in high titer (Patient 1: 344, Patient 2: 255). Both had positive anti-nuclear antibodies (ANA) with a homogeneous pattern. Radiograph of the hand of Patient 1 showed carpel crowding, periarticular osteopenia, flexor deformities and widening of the metacarpal epiphysis (Fig. 1b). High-resolution ultrasound of the hand showed synovitis of wrists and erosions at the carpal and metacarpal bones. Radiograph of the lumber spine and pelvis showed mild platyspondyly, and flattened with superior-lateral dislocation of the left femoral head (Fig. 1c,d). Radiograph of hand of Patient 2 showed carpel crowding, periarticular osteopenia and erosions (Fig. 2b). High-resolution ultrasound of the hand showed synovitis at wrist joints and erosions in metacarpal bones. Radiograph of the lumber spine showed spondylolysthesis of the L5 vertebra, presence of Schmorl nodes and end plate abnormalities and posterior osteophytes (Fig. 2c,d). Her radiograph of the pelvis was normal. The patients had orofacial abnormalities, auditory abnormalities and mild skeletal abnormalities, along with a positive family history, that is, first-degree relative affected. Thus, they fulfilled criteria for Stickler syndrome. There was variability in phenotype of both the patients which is very well known with Stickler syndrome. Although it is among the most common autosomal dominant connective tissue disorder, there have been reports where the inheritance is autosomal recessive. Camp et al. described a family of Moroccan origin that consisted of four children with Stickler syndrome, six unaffected children, and two unaffected parents

Factitious lobular panniculitis presenting as recurrent breast ulcers

Dear Editor, A 22-year-old woman presented with 6-month complaints of polyarthralgia, intermittent low grade fever and bilateral large recurrent breast ulcerations. The ulcers reportedly started as painful nodular swellings in the breasts followed by ulceration after a few days. She had visited a number of medical practitioners including surgeons, with no benefit. She denied having any other significant past or current history. The general and systemic examinations were largely unremarkable, including no evidence of arthritis. She had a superficial and deep ulcer on the right breast, and a superficial healing ulcer on left breast (Fig. 1). There were multiple scars of previous lesions, including sutures, on both breasts. There were no underlying palpable nodules or associated lymph node enlargements. We considered a differential diagnosis of lupus mastitis, fat necrosis, sarcoidosis, malignancy, vasculitis and Weber–Christian disease. Her investigations, including erythrocyte sedimentation rate (ESR), hematological parameters, renal and liver function tests, were within normal limits. She tested negative for antinuclear (ANA), anti-neutrophil cytoplasmic (ANCA) and antiphospholipid (APLA) antibodies. Ulcer swab Gram stain was negative and cultures were sterile. The biopsy of her breast ulcer revealed neutrophil-rich mixed inflammatory infiltrate with damaged fat lobules suggestive of lobular panniculitis (Fig. 2). Mammography of breasts did not reveal any abnormalities. The patient was started on oral steroids. The ulcers were dressed daily and the larger ulcer was sutured. The patient’s ulcers started improving. However, during her ward stay, she developed a new lesion on her right breast overnight. As her lesions were healing, the development of a new ulcer was not anticipated, especially because no preceding breast nodule had been noted. Closer inspection of the ulcer revealed features suggestive of an incised wound, with superficial, hesitation cuts, multiple incisions within the ulcer and the ulcer margins were sharp and superficial at the edges. Further,

Neuropathic arthropathy and syringomyelia complicating a case of ankylosing spondylitis with peripheral arthritis

Ankylosing spondylitis (AS) can present with various spinal complications due to ligamentous calcifications, fractures and extradural compression. However, syringomyelia is a rare association in patients of AS. It is also unusual for a patient to present with two forms of arthropathies due to different aetiologies at one point of time. A 30-year-old man presented with a 6-year history of inflammatory back pain, enthesitis and with a history of peripheral arthritis since 1 year. A diagnosis of AS was carried out with the presence of inflammatory back pain, limited lumbar flexion and bilateral grade 3 sacroiliitis on pelvic radiography (not shown). He had a history of being treated with steroids and sulfasalazine with partial relief. On enquiry for his predominant hand wasting, he revealed having tingling sensation in the left-upper limb followed by right-upper limb since 2 years. He also noticed thinning of hand muscles with weakness in hand grip (left>right) since last 6 months. On examination his modified Schoberss test and chest expansion test were limited to 3.5 and 4.2 cm, respectively. The peripheral swollen joint count was 12. He also …