Complete Melkersson-Rosenthal syndrome: an exceptional cause of facial nerve palsy

Melkersson-Rosenthal syndrome (MRS) is a rare disease, with unknown etiology characterized by oro-facial oedema, fissuring tongue and peripheral facial palsy. The mainstay treatment is corticosteroids. We report the case of a 38-year old female, who presented six recurrent episodes of left peripheral facial palsy associated with simultaneous oedema of the median frontal area, treated successfully by short course oral corticosteroids with neuromuscular facial re-education. However, the recovery of the last episode was incomplete and the patient kept a left House-Brackmann grade II facial palsy at six months. The median frontal area was slightly inflammatory, being the location of simultaneous repetitive oedema and the tongue was fissured. These cardinal symptoms realise the complete triad of Melkersson-Rosenthal syndrome (MRS). The histopathological examination of the lip biopsy showed lymphocytic inflammation around the blood vessels. Since the residual facial palsy was graded as mild dysfunction, the frontal oedema fully recovered and the fissured tongue was not painful, the treatment consisted on appropriate neuromuscular re-education. The 6 months follow-up showed no recurrence with a stable grade II left facial palsy. We present this case to supplement the rare literature data concerning the management of this rare entity. Patients should be prepared to the risk of recurrent episodes with longer duration of symptoms and more incomplete recoveries, which may indicate other therapeutic options.

Putative Novel Atypical BTV Serotype ‘36’ Identified in Small Ruminants in Switzerland

We identified a putative novel atypical BTV serotype ‘36’ in Swiss goat flocks. In the initial flock clinical signs consisting of multifocal purulent dermatitis, facial oedema and fever were observed. Following BTV detection by RT-qPCR, serotyping identified BTV-25 and also a putative novel BTV serotype in several of the affected goats. We successfully propagated the so-called “BTV-36-CH2019” strain in cell culture, developed a specific RT-qPCR targeting Segment 2, and generated the full genome by high-throughput sequencing. Furthermore, we experimentally infected goats with BTV-36-CH2019. Regularly, EDTA blood, serum and diverse swab samples were collected. Throughout the experiment, neither fever nor clinical disease was observed in any of the inoculated goats. Four goats developed BTV viremia, whereas one inoculated goat and the two contact animals remained negative. No viral RNA was detected in the swab samples collected from nose, mouth, eye, and rectum, and thus the experimental infection of goats using this novel BTV serotype delivered no indications for any clinical symptoms or vector-free virus transmission pathways. The subclinical infection of the four goats is in accordance with the reports for other atypical BTVs. However, the clinical signs of the initial goat flock did most likely not result from infection with the novel BTV-36-CH0219.

Severe Disfiguring Scalp and Facial Oedema due to Henoch–Schönlein Purpura in a Child

Henoch–Schönlein purpura is a small vessel vasculitis that usually presents with palpable purpura, arthritis, abdominal pain, and nephritis. Subcutaneous oedema of dependent areas is common; however, oedema in the scalp is extremely rare especially in children older than two years. Here, we report a child with massive disfiguring scalp and facial oedema due to Henoch–Schönlein purpura. An eight-year-old boy presented with characteristic palpable purpuric rash and extensive disfiguring scalp and facial swelling for five days. He complained of blurred vision, vomiting, and severe headache on the day of admission. Examination revealed an ill child with extensive oedema of the face and scalp that was tender on palpation. His blood pressure was above the 99th percentile, and he had exaggerated deep tendon reflexes and extensor plantar responses. All biochemical investigations including renal function tests were normal. Noncontrast CT head showed normal brain, with marked soft tissue swelling of the scalp. Ultrasonography showed soft tissue oedema within and surrounding facial muscles without evidence of neck vessel compression. Urine analysis revealed microscopic haematuria on day 14 of the illness, and immunohistochemical staining of renal biopsy confirmed Henoch–Schönlein purpura nephritis. In conclusion, this case report presents a child with severe, disfiguring scalp and facial oedema due to Henoch–Schönlein purpura. It highlights that severe subcutaneous oedema of Henoch–Schönlein purpura can involve any part of the body not limiting to dependent areas.

Persistent Facial Oedema and Erythema in a Woman, An Uncommon Manifestation of Chronic Cutaneous Lupus Erythematosus

Manifestations of chronic cutaneous lupus erythematosus are variable. Periorbital and facial swelling occurs in dermatomyositis and systemic lupus, but it has been rarely reported as a manifestation of exclusively cutaneous lupus. A 48-year-old woman presented with a 16-year history of asymptomatic, bilateral swelling and erythema of her face with marked worsening after sun exposure. No systemic symptoms were associated. A complete evaluation did not reveal other findings. Cutaneous biopsy showed features of lupus erythematosus. She was treated with photoprotection, topical tacrolimus, hydroxychloroquine and azathioprine with a partial response. Facial swelling with erythema represents quite an unusual manifestation of chronic cutaneous lupus erythematosus. Dermatomyositis, systemic lupus and Morbihan disease are the main differential diagnoses.

Clinical Phenotypes of Severe Cutaneous Drug Hypersensitivity Reactions

Drug hypersensitivity reactions are clinically heterogenous ranging from mild to severe. Most drug hypersensitivity reactions are accompanied by cutaneous manifestations. Fever, mucous membrane involvement, large blisters, facial oedema, pustulosis and visceral involvement are clinical features that lead to suspicion of severe adverse drug reactions. Severe cutaneous adverse drug reactions (SCARs) include Stevens-Johnson syndrome, toxic epidermal necrolysis, drug rash eosinophilia and systemic symptoms, acute generalized exanthematous pustulosis. Serum sickness like reactions, drug induced vasculitis and generalized bullous fixed drug eruptions are less severe clinical entities. SCARs are uncommon but associated with significant morbidity and mortality. Physician should be aware of specific red flags and danger signs to immediately identify these reactions. Immediate drug withdrawal is mandatory. Early diagnosis and appropriate treatment significantly affect the prognosis of the disease. The purpose of our review is to discuss clinical phenotypes of severe cutaneous drug hypersensitivity reactions.

11. An unusual case of dermatomyositis with anti-small ubiquitin-like modifier activating enzyme (SAE) antibodies present

Introduction Idiopathic inflammatory myopathies (IIM) have long been diagnosed using a defined number of clinical criteria (Bohan and Peter). The emergence of new myositis specific antibodies (MSAs) and their relation to specific disease phenotypes may be useful in establishing a new clinical-serological diagnostic criteria for different disease presentations and thus help to determine management and prognosis. We present a case of dermatomyositis (DM) where limb subcutaneous oedema; a rare manifestation of the disease, and severe dysphagia were prominent clinical features in addition with the presence of anti-small ubiquitin-like modifier activating enzyme (SAE) antibodies. Case description A 63-year-old Pakistani male presented with weight loss, anorexia, odynophagia, and a rash over his scalp, chest, face and flexor surfaces. Initial blood results revealed hypoalbuminaemia, CRP 7mg/L and ESR 37mm/h. A CT chest revealed an anterior mediastinum soft tissue mass suggestive of necrosis, with multiple ill-defined nodes throughout the lungs. An endoscopy revealed severe gastritis. Oropharyngeal examination revealed pooling of saliva and mucositis. Ceftriaxone was commenced for a presumed infective aetiology. Video fluoroscopy confirmed pharyngeal dysphagia with aspiration. Examination demonstrated a non-fatigable bulbar sounding dysarthria. There was no tongue wasting or fasciculations. Power was globally reduced, with marked proximal upper and lower limb weakness. Nerve conduction studies revealed normal sensation, and most motor nerves had normal conduction velocities with small nerve responses. Electromyography showed areas with denervation. With no improvement in the patient’s condition, anti-tuberculosis and anti-fungal therapy were commenced, with pulsed methylprednisolone for three days followed by 80mg daily to cover for an organizing pneumonia. Subsequent cultures were negative. Progressive weight loss with muscle wasting ensued and later, facial hyperpigmentation was noted in addition to the development of facial, lip and arms swelling. He was rheumatoid factor positive >500 iu/ml, with a raised IgE 2912 g/L and IgG 37.6 g/L. A CT-PET scan revealed intense uptake in the muscles posterior of the neck, tongue and masticators. An MRI scan of his arms revealed several abnormal signals around the shoulder girdle, long muscles of the back, and upper arm, which guided the site for muscle biopsy. This revealed highly abnormal skeletal muscle with frequent atrophic and necrotic fibres overrun by macrophages and T-cell rich inflammation. These findings in addition to serology reporting the presence of anti-SAE antibodies confirmed the diagnosis. Pulsed methylprednisolone, immunoglobulin therapy, and azathioprine were initiated with reducing prednisolone dose. Discussion This case of DM with a generalised rash, severe dysphagia and limb subcutaneous oedema were salient features in addition to the presence of anti-SAE antibodies. Anti-SAE has been shown to be present exclusively in DM patients where rash and severe dysphagia are common clinical findings. Our patient presented with severe dysphagia, which can be difficult to manage requiring enteral feeding. Video fluoroscopy was particularly useful in this case helping to stratify the severity of dysphagia and we would urge other clinicians to use this tool when investigating patients with suspected dermatomyositis to avoid potential complications of poor swallow including aspiration pneumonia. The additional imaging modality of PET-CT in our case confirmed the involvement of the muscles of mastication thus could prove a useful tool when investigating involvement of swallowing muscles in patients with anti-SAE DM. Skin features are another common finding in the anti-SAE group and our patient had a heliotrophic rash and shawl sign, which responded poorly to treatment. We describe the additional feature of severe subcutaneous limb and facial oedema, a rare manifestation of the disease, described in only a few other cases. Limb subcutaneous oedema is thought to reflect underlying severe muscle disease, is difficult to treat, and often is unresponsive to conventional treatment. Our case, and several other cases with the presence of limb oedema as reported in a literature search, required treatment with intravenous immunoglobulin and glucocorticoids, in addition with azathioprine and methotrexate. This is the first reported case to our knowledge of a patient with positive ANA, RF, anti-ccp, and anti-small ubiquitin-like modifier activating enzyme (anti-SAE) antibodies. Key learning points The finding of anti-SAE in our case where severe dysphagia was present provides further weight to this antibody being a useful serological marker to identify this subgroup of DM patients. Identifying this antibody may be helpful in creating management strategies for these patients and determining disease progression and prognosis. The presence of limb and facial oedema may be an overlying feature of the anti-SAE group; however, previous cases of limb oedema have not identified this antibody as the SAE test was unavailable. The presence of severe dysphagia and subcutaneous oedema suggests the presence of anti-SAE lends itself to a clinical phenotype of DM that is particularly severe and requires multidisciplinary input. Conflicts of interest The authors have declared no conflicts of interest.

Outbreaks of myxomatosis in Egyptian domestic rabbit farms

<p class="Default">Myxomatosis is an endemic infectious, severe and often fatal disease of rabbit caused by myxoma virus. In the present study, myxomatosis outbreaks were reported in 7 domestic rabbit farms in Egypt. Rabbits showed oedema of the eyelids, facial oedema and blepharoconjunctivitis. The morbidity and lethality rates were 18-100% and 20-80%, respectively. The myxomatosis diagnosis was based on histopathology, virus isolation on rabbit kidney cell line (RK-13), polymerase chain reaction (PCR) and sequence analysis. Histopathological examination revealed the presence of epidermal hyperplasia, dermal necrosis and intracytoplasmic eosinophilic inclusion bodies. The virus was isolated on RK-13 cells and induced cytopathic effect. Using PCR, a band of 471 base pair corresponding to the M071L gene was amplified from extracted DNA. Sequence alignment of four out of the 7 isolates revealed that these isolates were 98-99% identical to European and Australian rabbit myxoma reference viruses. In conclusion, rabbit myxomatosis outbreaks and virus isolation procedures are reported herein for the first time in Egypt. Preventive policies against disease circulation should be adopted by the national authorities.</p>

WED 242 A challenging case of periorbital swelling

A 54 year old lady was referred with a eighteen month history of slowly progressive, asymmetric, periorbital and facial oedema. She was thought to have inflammatory orbital pseudotumour.During this time, she had also developed a dry mouth, joint pains and enlarged salivary glands. A salivary gland ultrasound scan was suggestive of Sjogren’s disease although antinuclear antibody and rheumatoid factor were negative. She had recently been prescribed omeprazole for mild dysphagia and hoarse voice from vocal cord oedema.Past medical history included Hashimoto thyroiditis for which she was taking levothyroxine.Clinical examination revealed peri-orbital and facial oedema causing proptosis of the right globe and complete lid closure. Visual acuity, eye movements and visual fields of the left eye were normal. Her voice was hoarse and she had mouth ulcers. She had a widespread erythematous rash that was thought to be a drug reaction to omeprazole.Apart from mild lymphopenia and mildly deranged liver function, blood tests, including inflammatory markers and thyroid function, were unremarkable.MRI of the brain and orbits revealed diffuse oedema of facial structures, including the orbital muscles. A CT body scan was unremarkable.A temporalis muscle biopsy confirmed a high grade NK/T cell lymphoma.