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2021 ◽  
pp. 1-4
Author(s):  
Aikaterini Tsiogka ◽  
Martin Laimer ◽  
Dimitrios Rigopoulos ◽  
Verena Ahlgrimm-Siess

<b><i>Introduction:</i></b> Nail matrix nevi (NMN) in pediatric patients manifest as longitudinal melanonychia (LM) and can share clinical, dermoscopic, and histopathological characteristics with subungual melanoma. Equivocal findings in childhood LM may reflect dynamic processes during the natural life cycle of NMN in children. <b><i>Case Presentation:</i></b> We present a case of a heavily pigmented LM with equivocal clinical and dermoscopic findings in a 3-year-old Caucasian girl, which exhibited signs of evolution, maturation, and almost complete involution within a short time period during digital follow-up, attributed to the natural course of NMN. <b><i>Discussion/Conclusion:</i></b> Considering the rarity of subungual melanoma in childhood, our case underlines the significance of clinical and digital dermoscopy follow-up in the evaluation of childhood LM in order to avoid unnecessary biopsies and potential permanent nail dystrophy.


2021 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Lucy Paterson-Brown ◽  
Alexandra Jones ◽  
Nick Wilkinson

Abstract Case report - Introduction Scleritis is severe vision-threatening scleral inflammation, commonly presenting with a red, painful eye and can be classified using the Watson system. Posterior scleritis may present with associated anterior uveitis in many cases. Steroid therapy is often successful initially; however, further immunomodulation is usually required to control subsequent episodes which can be challenging. We present an 18-year-old, Caucasian girl with a left eye, sight-threatening, steroid-dependent posterior uveitis who required escalation of treatment to tocilizumab before inflammation could be suppressed. Case report - Case description Our patient was diagnosed elsewhere with ulcerative colitis at the age of 12 and subsequently developed recurrent episodes of uveitis and scleritis which could be controlled with topical steroids. At the age of 16 she presented with an inflammatory arthritis and was treated with intravenous methylprednisolone before commencing sulfasalazine therapy. Due to persistent systemic and ophthalmic inflammation she was changed to adalimumab; however, this was also unsuccessful and methotrexate was added. By the age of 18 she had been steroid-dependent for 2 years and could not reduce daily prednisolone below 15mg without a deterioration in her left eye posterior scleritis with visual acuity compromise including episodes of complete visual loss causing high levels of anxiety. Due to the pain and deterioration in vision she struggled with her studies and school attendance, and withdrew from her passion for competitive sailing. With ongoing sight-threatening inflammatory changes she was referred for further tertiary assessment in 2019. During the following 4 months treatment was escalated rapidly. Methotrexate dose was increased, and adalimumab frequency reduced to weekly. There was a limited response, with further episodes of sight deterioration as a result of flares in inflammation. Response to tocilizumab treatment was seen after only two doses with good control of scleritis by 3 months of treatment when steroids were successfully weaned and stopped. Over 18 months of tocilizumab therapy the patient has only required one course of topical steroids for mild ocular inflammation which resolved without any other treatment required. She has successfully completed her degree, can complete daily gym training sessions and participate in regular sailing competitions. Case report - Discussion Posterior scleritis is the most common scleritis in children and can be associated with anterior uveitis, concurrent anterior scleritis, disc swelling or retinal striae. Posterior scleritis has a higher rate of complications therefore is treated aggressively. Refractory cases such as this require biologic therapy and rituximab is often used. Despite the preference of two adult eye units for treatment with rituximab the rationale for tocilizumab included; recent high quality studies showing successful treatment of inflammatory bowel disease, its known benefit for anterior uveitis and case studies in adults with posterior scleritis. Tocilizumab is a recombinant monoclonal antibody that causes a blockade of interleukin-6 receptors. It is currently only approved by the Food and Drug Administration (FDA) for use in children with polyarticular or systemic onset Juvenile Idiopathic Arthritis (JIA). Our patient had a very positive experience with this drug, no side effects and rapid clinical improvement seen. As a result her quality of life and mental health improved quickly. Case report - Key learning points This is a case of refractory, sight-threatening, steroid-dependent posterior scleritis on a background of inflammatory bowel disease and arthritis. As a result of this case our team reviewed current literature from other paediatric populations and adults with scleritis, informing the clinical decision to proceed with tocilizumab after control was unsuccessful with previous agents. The remarkable response demonstrated for our patient highlights the value tocilizumab can offer to the treatment options for similar refractory cases. This adds to the growing positive data published surrounding tocilizumab in children but further studies in paediatric populations are required to evaluate this in greater detail.


2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Mauro Iannelli ◽  
Stefano Passanisi ◽  
Giuseppe Crisafulli ◽  
Stefania Arasi ◽  
Lucia Caminiti ◽  
...  

Abstract Background Solar urticaria represents an uncomfortable form of chronic inducible urticaria. First and second-line treatments are ineffective in some patients, leading to an impairment in their quality of life. Omalizumab represents a safe therapeutic option in case of refractory solar urticaria. Case presentation We update a case of a 21-year-old Caucasian girl affected by solar urticaria from the age of 14. Poor disease control was achieved with standard or high-dose of H1-antihistamines. Several omalizumab courses, including a 1-year-long course, were practiced resulting in clinical remission and significant improvement in patient’s quality of life. Conclusion Our experience confirms the effectiveness and safety of omalizumab for the management of refractory solar urticaria. Future studies are awaited in order to monitor long term effects and chronic doses of this treatment, particularly in patients who need concomitant therapy with antihistamines.


2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
A Sharma ◽  
R Stoner ◽  
N Fazili ◽  
J Watfah

Abstract A 16-year-old, Caucasian girl presented with sudden-onset pleuritic chest pain (CP), vomiting and shortness of breath. Nil past medical history; nil medications; nil trauma/ surgery. She was tachycardic, tachypnoeic and apyrexial with oxygen saturations &gt;96% on air. There was significant right-sided facial and neck swelling. Chest palpation demonstrated crepitations suggesting subcutaneous emphysema (SE). Urinalysis was negative. Laboratory tests revealed leucocytosis and neutrophilia. Chest X-Ray: SE. CT Thorax: extensive gas within mediastinal cavity tracking along great vessels and within subcutaneous tissues with left, apical pneumothorax. Two air-filled tracts communicating between oesophagus and mediastinal cavity, ∼2cm from gastro-oesophageal junction, indicated oesophageal rupture. Conservative management included IV Fluids, antibiotics and feeding via total parenteral nutrition. After 1-week, oral water-soluble-contrast was administered. Subsequent imaging showed no evidence of extra-luminal extravasation and she was discharged. At 4-week follow-up, normal dietary intake was re-established with no complications. Discussion Boerhaave’s syndrome (BS) (described by Dutch physician Herman Boerhaave in 1724) is the phenomenon of spontaneous oesophageal perforation. The underlying mechanism is due to a sudden rise in intra-luminal pressure against a closed glottis resulting in barotrauma. BS in adolescents remains a rare entity with a paucity of reported cases. Mackler’s triad describes the classical presentation comprising vomiting, CP and SE. Non-specific presentation may delay diagnosis and a high clinical index of suspicion is required. CT thorax and water-soluble-contrast studies are diagnostic. Timing of presentation, complications and haemodynamic status dictate conservative or surgical management approach. BS carries a 20-40% mortality, and must be included in differential diagnoses of adolescents presenting with vomiting and CP.


Author(s):  
Omer Abdul Hamid ◽  
Paul Klimo ◽  
Asim F. Choudhri ◽  
Namrata Shah

AbstractThe study aimed to describe a case of a 7-year-old Caucasian girl who developed isolated chorea in her right upper and lower extremities progressively increasing over 2 years. This study is a case report and conducted at tertiary care center. A 7-year-old Caucasian girl who gradually developed worsening choreiform movements in her right upper and lower extremities over the course of 2 years until medical attention was sought. Literature review of children presenting with chorea as the only manifestation in moyamoya disease. A 7-year-old right-handed Caucasian girl presented with progressively worsening choreiform movements in her right upper and lower extremities affecting her fine motor skills and gait impairment There was no weakness, hyperreflexia, or spasticity on her neurological exam. Neuroimaging studies showed “ivy sign,” asymmetric prominence of vessels within the subarachnoid spaces overlying the left cerebral hemisphere with corresponding serpiginous T2 fluid-attenuated inversion recovery abnormality, but no parenchymal volume loss or diffusion restriction. Magnetic resonance angiography showed focal moderate-to-severe stenosis at the junction of the paraophthalmic and supraclinoid segments of the left internal carotid artery, with poststenotic dilatation. Angiography demonstrated focal stenosis involving the ophthalmic segment of the left internal carotid artery with 50% stenosis. There was compensation through a medium sized left posterior communicating artery as well as posterior cerebral artery to middle cerebral artery and anterior cerebral artery collateralization. Brain single-photon emission computerized tomography scan showed no evidence of perfusion defects in the cerebral hemispheres, basal ganglia, or thalami. She underwent successful revascularization procedure (left pial synangiosis) with resolution of her choreiform movements and normalization of her gait. Our case demonstrates that moyamoya disease should be suspected when evaluating a child with hemichorea and describes resolution of symptoms after revascularization surgery. Neuroimaging and vascular studies should be obtained in children with unilateral movement disorder.


Author(s):  
Park Benjamin J ◽  
Camoriano David ◽  
Vital Mark C ◽  
Chévez-Barrios Patricia ◽  
Goosey John D ◽  
...  

Purpose: To describe management of a patient with ligneous conjunctivitis secondary to plasminogen deficiency and review the literature on treatment with plasminogen. Design: Interventional case report. Methods: A 6-year-old Caucasian girl developed ligneous conjunctivitis recalcitrant to debridement and treatment with topical cyclosporin A and steroids. The literature was reviewed regarding treatment of ligneous conjunctivitis with plasminogen. Results: The patient was treated with plasminogen containing drops derived from her father’s fresh frozen plasma. The ligneous conjunctivitis resolved, and the patient was managed on these drops for the following 8 years, initiating treatment for flares and tapering according to clinical response. Conclusions: Plasminogen drops concentrated from fresh frozen plasma are a safe and effective option for long-term treatment of ligneous conjunctivitis.


2021 ◽  
Vol 12 ◽  
Author(s):  
Ana Drole Torkar ◽  
Magdalena Avbelj Stefanija ◽  
Sara Bertok ◽  
Katarina Trebušak Podkrajšek ◽  
Maruša Debeljak ◽  
...  

A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C&gt;T) in the INPP5E gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive cone-rod type retinal dystrophy diagnosed at the age of four months that progressed in the 1st decade of life. Severe obesity, insulin resistance with hyperinsulinism, and impaired glucose tolerance developed alongside other components of the metabolic syndrome - dyslipidemia, arterial hypertension, and obstructive hypopnea in sleep. At the age of 14 years, primary amenorrhea persists. The patient is managed by regular nutritional advice, metformin, antihypertensive medication, and non-invasive respiratory support during sleep. Differential diagnosis of this rare entity is discussed in extend.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rosaria Nardello ◽  
Fulvio Guccione ◽  
Claudia Gliubizzi ◽  
Antonio Marino ◽  
Mariarita Capizzi ◽  
...  

Abstract Background Aripiprazole is a third-generation atypical antipsychotic drug that acts as a stabilizer of the dopaminergic and serotonergic system. As partial agonist of the dopamine (D2) and serotonin (5-HT1A) receptors, it appears to be effective in reducing mania in patients with bipolar disorder, tics in Tourette Syndrome, aggression in schizophrenia and autism spectrum disorder. Enuresis has been reported among its side effects. Only a few studies, with conflicting results, have investigated the relationship between aripiprazole and enuresis. Case presentation We report the disappearance of enuresis in a Caucasian girl with intellectual disability and oppositional defiant disorder and in a Caucasian boy with intellectual disability and early-onset psychosis, both following initiation of treatment with aripiprazole. Conclusion The aim of this study was to contribute to the literature on the use of aripripazole in subjects with enuresis. Our findings lead us to suggest that aripiprazole is less burdened with side effects, including bedwetting, than other antipsychotic drugs.


2021 ◽  
Vol 12 ◽  
Author(s):  
Francesco Saettini ◽  
Grazia Fazio ◽  
Daniele Moratto ◽  
Marta Galbiati ◽  
Nicola Zucchini ◽  
...  

DOCK8 deficiency is a combined immunodeficiency due to biallelic variants in dedicator of cytokinesis 8 (DOCK8) gene. The disease has a wide clinical spectrum encompassing recurrent infections (candidiasis, viral and bacterial infections), virally driven malignancies and immune dysregulatory features, including autoimmune (cytopenia and vasculitis) as well as allergic disorders (eczema, asthma, and food allergy). Hypomorphic function and somatic reversion of DOCK8 has been reported to result in incomplete phenotype without IgE overproduction. Here we describe a case of DOCK8 deficiency in a 8-year-old Caucasian girl. The patient’s disease was initially classified as autoimmune thrombocytopenia, which then evolved toward a combined immunodeficiency phenotype with recurrent infections, persistent EBV infection and lymphoproliferation. Two novel variants (one deletion and one premature stop codon) were characterized, resulting in markedly reduced, but not absent, DOCK8 expression. Somatic reversion of the DOCK8 deletion was identified in T cells. Hypomorphic function and somatic reversion were associated with restricted T cell repertoire, decreased STAT5 phosphorylation and impaired immune synapse functioning in T cells. Although the patient presented with incomplete phenotype (absence of markedly increase IgE and eosinophil count), sclerosing cholangitis was incidentally detected, thus indicating that hypomorphic function and somatic reversion of DOCK8 may delay disease progression but do not necessarily prevent from severe complications.


2021 ◽  
Vol 13 (1) ◽  
pp. 215-218
Author(s):  
Federica Veronese ◽  
Francesca Graziola ◽  
Pamela Farinelli ◽  
Elisa Zavattaro ◽  
Vanessa Tarantino ◽  
...  

We describe a case of cutaneous Larva Migrans in an 8-year-old Caucasian girl. The lesion appeared ten days after a bath in the river in a valley in the north-east of Piedmont. The patient was successfully treated with Albendazole 400 mg daily for 5 days. Autochthonous cases are rare, particularly in northern Italy. Probably the high temperatures and the high degree of humidity favored by the climate changes to which Europe is subjected are favorable to the development of larvae. The diagnosis of cutaneous Larva Migrans should, therefore, be considered also in individuals who have not traveled in geographic areas at risk for the climate.


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