Κυριακή 18 Ιουνίου 2017
PASH syndrome a disease with genetic heterogeneity
PASH syndrome is a clinical entity associating pyoderma gangrenosum (PG), severe acne and hidradenitis suppurativa (HS)1. Absence of pyogenic sterile arthritis (PA) distinguishes PASH syndrome from PAPASH and PAPA syndromes which associate PA in combination with PG, severe acne with or without HS, respectively2,3. Mutations in PSTPIP1 (proline-serine-threonine-phosphatase interacting protein 1) gene were identified in patients with PAPA and PAPASH syndromes, although genetic heterogeneity was observed in PAPA syndrome2,3. Loss-of-function mutations in the y-secretase genes, Nicastrin (NCSTN), Presenilin Enhancer-2 (PSENEN), and Presenilin-1 (PSEN1), have been reported in a small proportion of HS patients4,5.
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Sporotrichosis masquerading as pyoderma gangrenosum
Abstract
Sporotrichosis is a subcutaneous mycosis with a worldwide distribution caused by species of the Sporothrix schenkii complex. Since 1998, it has reached epidemic proportions in the city of Rio de Janeiro, Brazil, via transmission from infected cats to humans. The species identified as the primary cause was Sporothrix brasiliensis.
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European Surveillance System on Contact Allergies (ESSCA): results with the European baseline series, 2013/14
Abstract
Background
Contact allergy is a common condition and can severely interfere with daily life or professional activities. Due to changes in exposures, a consequence of introduction of new substances, new products or formulations, and regulatory intervention, the spectrum of contact sensitisation changes.
Objective
To evaluate the current spectrum of contact allergy to allergens present in the European baseline series (EBS) across Europe.
Methods
Retrospective analysis of data collected by the European Surveillance System on Contact Allergies (ESSCA, www.essca-dc.org) in consecutively patch tested patients, 2013/14, in 46 departments in 12 European countries.
Results
Altogether, 31689 patients were included in the analysis. Compared to a similar analysis in 2004, the prevalence of contact allergy to methylisothiazolinone went up to around 20% in several departments. In comparison, contact allergy to the metals nickel, cobalt and chromium remained largely stable, at 18.1, 5.9 and 3.2%, respectively, similar to mostly unchanged prevalences with fragrance mix I, II and Myroxylon pereirae (Balsam of Peru) at 7.3, 3.8 and 5.3%, respectively. In the subgroup of departments diagnosing (mainly) patients with occupational contact dermatitis, the prevalence of work-related contact allergies such as to epoxy resin or rubber additives was increased, compared to general dermatology departments.
Conclusion
Continuous surveillance of contact allergy based on network data offers the identification of time trends or persisting problems, and thus enables focussing in-depth research (subgroup analyses, exposure analysis) on areas where it is needed.
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Diphenylcyclopropenone for the treatment of cutaneous in-transit melanoma metastases – results of a prospective, non-randomised, single centre study
Abstract
Background
Current treatments for in-transit melanoma (ITM) metastases are frequently invasive and do not improve overall survival. Recently there has been increasing investigation into the use of topical agents for ITM. Diphenylcyclopropenone or diphencyprone (DPCP) is a novel, topical agent that has been reported to have immune-sensitising properties useful in the treatment of ITM.
Objective
To assess the clinical outcomes of patients treated within a prospective, non-randomised, non-comparative study using DPCP for cutaneous in-transit melanoma metastases.
Methods
A review was conducted assessing the outcomes of 58 patients prospectively treated using DPCP. Patients had satellite or in-transit disease (stage IIIB+), with all lesion morphology types included. The patients were treated through a single, specialised clinic with regular outpatient follow-up. DPCP was topically applied as an aqueous cream in 0.005% - 1% concentrations once to twice per week for up to 24 - 48 hours duration. To assess variables associated with response, a per-protocol statistical analysis was performed.
Results
Fifty-four patients were treated who satisfied eligibility criteria for analysis. The overall response rates were: complete response 22%, partial response 39%, stable disease 24% and progressive disease 15%. The mean time to CR was 10.5 months, mean duration of CR (disease-free interval) 12.3 months and recurrence rate in complete responders 41.2%. Lesion morphology was predictive of clinical benefit with a higher response in epidermotropic disease (P <0.05).
Conclusions
DPCP provided a well-tolerated, convenient and efficacious treatment for cutaneous in-transit melanoma metastases. Identifying patterns of response may assist treatment selection and improve patient-rated outcomes.
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Bilateral ischaemic optic neuropathy and retinopathy along with cortical infarct in a case of Takayasu disease
Description
A 27-Year-old female presented with complaints of sudden onset visual loss along with right sided deviation of the angle of mouth since past 30 days. Vision loss had worsened in the last week. There was history of severe headache which was not associated with vomiting. There was no history of any other neurological deficit or prior systemic illness. Examination for cranial nerve function revealed a left sided upper motor neuron facial nerve palsy and rest of the neurological examination was within normal limits. On ocular examination, the patient had best-corrected visual acuity of light perception (PL) in right eye (RE) and 6/36 in left eye (LE). A grade four relative afferent pupillary defect was noted in RE, while slit lamp examination and tonometry were normal. On fundus examination, RE optic disc had yellowish-white pallor while LE optic disc had temporal pallor (figure 1A,B). Multiple retinal...
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Saksenaea vasiformis infection in an immunocompetent patient in rural Australia
An 81-year-old man from rural Australia presented with right pretibial cellulitis 7 days after minor trauma against furniture. He failed to improve despite antibiotics and surgical debridement. Subsequent cultures grew the rare fungus Saksenaea vasiformis, which was treated with further surgical debridement, amphotericin B and posaconazole. This was successful and the patient made a full recovery. We present the case and discuss lessons learnt.
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QUAD fever: beware of non-infectious fever in high spinal cord injuries
A case of cervical spinal cord injury and quadriparesis with prolonged fever is being described. Initially, the patient received treatment for well-documented catheter-related bloodstream infection. High spiking fever returned and persisted with no obvious evidence of infection. The usual non-infectious causes too were carefully excluded. QUAD fever or fever due to spinal cord injury itself was considered. The pathogenetic basis of QUAD fever is unclear but could be attributed to autonomic dysfunction and temperature dysregulation. Awareness of this little known condition could help in avoiding unnecessary antimicrobial therapy and in more accurate prognostication. Unlike several previous reported cases that ended fatally, the present case ran a relatively benign course. The spectrum of presentations may therefore be broader than hitherto appreciated.
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Tumour necrosis factor (TNF) inhibitor-induced isolated pleural granulomas: a rare adverse effect
A 53-year-old man with a history of Crohn's disease on infliximab, presented with several weeks of cough and dyspnoea. He had a right-sided pleural effusion, found to be exudative with lymphocytic predominance. He underwent right-sided video-assisted thoracic surgery (VATS) with biopsies and pleurodesis. Histopathology showed pleural-based non-caseating granulomas with unremarkable lung parenchyma. Cultures were only positive for Propionibacterium acnes. 8 months later, he was found to have a left-sided exudative, lymphocytic predominant pleural effusion. Left-sided VATS and biopsies again showed pleural-based non-caseating granulomas with normal lung parenchyma. Having ruled out an active infection and malignant lesions, we diagnosed infliximab-induced pleural granulomas. Infliximab was stopped. The patient continues to do well at 6 years of follow-up. We believe this is the first report of tumour necrosis factor (TNF) inhibitor-induced isolated pleural granulomas. P. acnes and cytokine imbalance might be responsible for the pathogenesis of TNF inhibitor-induced granulomas.
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A case of recurrent, multifocal anastomosing haemangiomas
Anastomosing haemangiomas are relatively rare lesions, with a renal predilection, and which, given their imaging and pathologic appearance, mimic aggressive malignancies such as angiosarcoma. The imaging characteristics of this case are informative when evaluating a vascular lesion of the adrenal gland.
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Internal carotid artery occlusion and stroke as a complication of cisplatin-based chemotherapy for metastatic testicular germ cell tumour
Testicular tumours are the most common tumours in young men. Germ cell tumours (GCTs) account for 95% of all testicular cancers, and the non-seminomatous type (NSGCT) accounts for 50% of all GCTs. Cisplatin-based chemotherapy is curative in up to 90% of patients, but it is not without its inherent risks. Ischaemic stroke is a very uncommon, but severe complication of cisplatin-based chemotherapy. Strokes in young patients cause a disproportionately large economic impact by leaving victims disabled during their most productive years and strains the healthcare system with expensive hospital stays. We present a case of a young male patient with past medical history of metastatic NSGCT with the sudden onset of dysarthria, left hemiplegia and ipsilateral hemisensory loss 3 days after receiving cisplatin-based chemotherapy. Subsequent studies revealed a stroke involving the right middle cerebral artery territory secondary to an acute right internal carotid occlusion.
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Ominous triad triggered by high-dose glucocorticosteroid therapy
Glucocorticosteroids (CS) play a key role in the treatment of numerous diseases. Nonetheless, they can be accompanied by several adverse effects. We present the case of a 51-year-old woman who was treated with high-dose CS for a relapse of her multiple sclerosis. After 5 days of treatment, the patient developed severe diabetic ketoacidosis, hypertriglyceridemia and acute pancreatitis—a potentially life-threatening triad which has previously been described, in our case, however, for the first time as a complication of CS therapy. Our patient's condition was further aggravated by a circulatory shock, haemodynamic relevant bleeding from a duodenal ulcer and psychotic symptoms. In the intensive care unit, intravenous insulin infusion, fluid resuscitation, catecholamine support, electrolyte supplementation, endoscopic haemoclipping and antibiotic and antipsychotic treatment were administered, leading to a continuous improvement of the patient's health state.
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Chest X-ray of a patient with history of pleural effusion
The presented chest X-ray depicts the thoracic duct anatomy of a 50-year-old man who underwent heart transplantation. His postoperative course was complicated by Candida mediastinitis, treated with débridements and closure of the anterior chest wound with myocutaneous flaps. Postoperatively, he had persistent output from a right-sided chest tube. The fluid appeared milky and its triglycerides level was elevated at 254 mg/dL. The drainage persisted despite a low fat diet. The interventional radiologist identified a leak in the upper thoracic duct. It was embolised with coil and onyx. After the procedure, the chylous pleural effusions resolved. The thoracic duct has been visualised on subsequent chest X-rays (figures 1 and 2).
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Port site endometrioma: a rare cause of abdominal wall pain following laparoscopic surgery
Endometriomas are a rare cause of abdominal wall pain. We report a case of a port site endometrioma presenting with an umbilical swelling. The patient underwent a laparoscopy for pelvic endometriosis 6 months previously and presented with a swelling around her umbilical port site scar associated with cyclical pain during menses. Ultrasound scan reported a well-defined lesion in the umbilicus and MRI scanning excluded other pathology. As she was symptomatic, she underwent an exploration of the scar and excision of the endometrioma with resolution of her symptoms. Precautions should be taken to reduce the risk of endometrial seeding during laparoscopic surgery. All tissues should be removed in an appropriate retrieval bag and the pneumoperitoneum should be deflated completely before removing ports to reduce the chimney effect of tissue being forced through the port site. The diagnosis should be considered in all women of reproductive age presenting with a painful port site scar.
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Multipathogenic necrotising supraglottitis in an immunocompetent patient
Supraglottitis is a potentially life-threatening condition. It is now uncommon due to the Haemophilus influenzae type B vaccination and is more recently caused by Streptococcus pneumoniae, S. pyogenes, H. influenzae non-type B, H. parainfluenzae, Staphylococcus aureus and Pasteurella multocida. Very rarely, it can cause necrotising supraglottitis/epiglottitis, and this has been reported in immunocompromised individuals. We present a unique case of multipathogenic supraglottitis causing laryngeal fibrinoid necrosis in an immunocompetent patient. During his admission, the patient was critically unwell and required surgical intervention and tracheostomy. However, he made a full recovery with no persisting morbidity. We believe that this was owed to the aggressive antimicrobial therapy, timely surgical management of the disease process and the patientâ™s immunocompetency.
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An unusual case of Escherichia coli O157:H7 infection with pseudomembranous colitis-like lesions associated with haemolytic-uraemic syndrome and neurological sequelae
A 75-year-old man was admitted with abdominal pain and fresh rectal bleeding. Significantly, he had no risk factors for Clostridium difficile infection. An abdominal CT demonstrated colonic thickening, and flexible sigmoidoscopy identified pseudomembranous colitis-like lesions. After initial treatment as C. difficile colitis, a stool sample revealed Escherichia coli O157:H7 infection. Antibiotic therapy was stopped due to the risk of lysis-mediated toxin release, but unfortunately, the patient continued to deteriorate. He developed several of the severe sequelae of E. coli O157:H7 infection, including haemolytic-uraemic syndrome with an acute kidney injury necessitating haemofiltration, plus progressively severe seizures requiring escalating antiepileptic treatment and intubation for airway protection. After a prolonged intensive care admission and subsequent recovery on the ward, our patient was discharged alive.
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From basal cell morphogenesis to the alopecia induced by hedgehog inhibitors: connecting the dots
Summary
The deciphering of the hedgehog (Hh) signaling pathway implicated in the tumorigenesis of basal cell carcinoma (BCC), led to the development of targeted drug therapies, e.g. the hedgehog pathway inhibitors (HPI), vismodegib and sonidegib. In the skin, physiologic Hh signaling is activated in growing hair follicles, where it is required for proliferation of the epithelium of hair follicles during morphogenesis and for their postnatal growth. The effects of HPI treatment leading to the regression of BCC and the development of alopecia, underpin the central role of the Hh pathway in BCC formation as well as hair cycling. Given the fact that BCC is a follicular- driven tumor, it is a fine tuning of events that regulate hair cycling, that may drive towards the formation of benign follicular hamartomas or malignant BCC neoplasms. The Wnt/β-catenin signaling interacts with the Hh signaling during HF morphogenesis, normal hair cycling and BCC development. The aim of this review is to present how key molecular events implicated in Hh pathway crosstalk in the hair follicle are also involved in BCC pathogenesis and result in the alopecia developed by HPI treatment.
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Oral ofloxacin and clindamycin as an alternative to the classic rifampicin/clindamycin in hidradenitis suppurativa: retrospective analysis of 65 patients
Rifampicin/Clindamycin (RC) combination is recommended as first line therapy in moderate to severe Hidradenitis Suppurativa (HS) by European S1 guidelines (1–3), notably because a large variety of microorganisms have been isolated from HS lesions: most represented bacteria appear to be Staphylococcus aureus, Coagulase negative staphylococci (CoNS) and anaerobic bacteria from normal skin flora. It has been hypothesized that these bacteria could play a central role in the initiation and maybe in the maintenance of HS lesions, possibly by being a source of antigens in a dysregulated immune response.
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Letter to the Editor concerning the article “Long term complications of Stevens-Johnson syndrome/Toxic epidermal necrolysis: The spectrum of chronic problems in patients who survive an episode of SJS/TEN necessitates multi-disciplinary follow up
We read with great interest, the review paper by Lee et al. on the long term complications of Stevens-Johnson syndrome and toxic epidermal necrolysis. We would like to congratulate the authors on this important and excellent overview. This review demonstrated that SJS/TEN has a severe, chronic phase with major physical morbidities. We wish to raise awareness to the major emotional complications among survivors; as was found in our study published in the British Journal of Dermatology by Dodiuk-Gad et al.
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The importance of risk communication and documentation for patients with cutaneous adverse drug reactions
We read with interest Teo et al.'s recently published article examining cutaneous adverse drug reactions (cADR) referred to an inpatient liaison dermatology service.1 The authors assessed the number and types of cADR encountered and subsequent documentation.1 The diagnosis and management of cADR has been recognised by NICE Guidelines on Drug Allergy as a high-priority area for quality improvement.2 We commend Teo and colleagues1 for examining an essential, yet often overlooked, component of health service quality. We would like to further highlight the importance of risk communication, documentation and patient-centred care, aspects that are imperative for severe cADR.
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Familial seborrhoeic keratosis associated with multiple “pure reticulated acanthomas” and infundibulocystic basal cell carcinomas
Abstract
Background
A variety of genodermatoses with multiple cutaneous tumors with germline genetic alterations such as Gorlin syndrome with PTCH1 gene mutations have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis.
Objective
We describe the clinical, dermoscopic, and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis. In addition, we tested for possible germline alterations in the FGFR3 and PTCH1 genes.
Methods
Ten members of one family were clinically examined. Ninety-two skin biopsy specimens were evaluated. Blood samples from six subjects were analyzed for FGFR3 and PTCH1 germline alterations. We review the literature concerning genetic FGFR3 alterations in seborrhoeic keratosis.
Results
Subjects of all generations affected by familial seborrhoeic keratosis also presented other skin tumors which corresponded histologically to reticulated acanthomas without apocrine or sebaceous differentiation as well as infundibulocystic basal cell carcinomas. In addition, two novel germline variants, p.Pro449Ser (c.1345C>T) in FGFR3 gene and p.Pro725Ser (c.2173C>T) in exon 14 of PTCH1 gene were identified in five subjects.
Conclusion
We characterize for the first time the clinical, dermoscopic and histopathological features of multiple reticulated acanthomas without apocrine or sebaceous differentiation, for which we propose the term "pure reticulated acanthoma", and infundibulocystic basal cell carcinomas, associated with familial seborrhoeic keratosis. We identified FGFR3 and PTCH1 germline polymorphisms whose influence in the development of reticulated acanthomas is unknown.
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Spontaneous cecal perforation in a 40-year-old pregnant woman treated by primary repair and omental patch: a case report
Spontaneous colonic perforations are scarce, and cecal perforations even more so. Preoperative diagnosis of the latter in a pregnant woman is particularly difficult because of physiologic changes and restricti...
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Lower Extremity Abscess Formation in Premature Infants due to Routine Infant Vaccinations
Since the introduction of vaccines, the impact of vaccinations has been immeasurable. Under the current immunization guidelines, infants receive the first of their routine infant vaccinations at 2 months of age. While the benefits of routine infant vaccinations in premature infants have been demonstrated, there is relatively little data on the dosing of these vaccines in premature infants. The medical records of two premature infants who developed intramuscular abscesses after receiving their routine infant vaccinations were reviewed. Both patients developed pain in the area of the injection after receiving their vaccinations. Magnetic resonance imaging findings confirmed the formation of an abscess. No other causes of abscess formation were observed. Both patients required surgical intervention and were treated with a course of antibiotics. To our knowledge, this is the first case report to suggest routine vaccinations as a potential cause of abscess formation in premature infants.
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