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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2sJ8Ngz
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2sJ8Ngz
Random Skin Biopsy in the Diagnosis of Intravascular Lymphoma
Abstract
Intravascular lymphoma (IVL) is a relatively rare type of non-Hodgkin lymphoma (NHL). IVL is characterized by selective growth of large lymphoma cells within small blood vessels. IVL is most often B-cell type, and only rarely found to be T-cell type1–3 or NK-cell type.
http://ift.tt/2sNRavO
Myxoid variant of primary cutaneous Anaplastic Large Cell Lymphoma: first two cases.
Abstract
Anaplastic large cell lymphoma (ALCL) is a CD30+ T-cell non-Hodgkin lymphoma with two main clinical presentations: primary cutaneous (pcALCL) and systemic (sALCL). While rare cases of myxoid sALCL have been reported, there are no previous cases of myxoid pcALCL reported. We present two unusual cases of pcALCL showing prominent collections of dermal mucin closely intermingling with the anaplastic lymphocytes. Patient 1 was a 30-year-old woman who presented with ulcerated nodules on her neck, abdomen, chest, and shoulders. A systemic lymphoma was excluded by physical examination, positron emission tomography and computed tomography (PET-CT) scan, as well as by bone marrow biopsy and flow cytometry studies. The patient was closely followed up for 10 months without evidence of systemic involvement. The biopsy showed diffuse infiltration of the dermis by a CD2+, CD30+, ALK-negative ALCL. Patient 2 was a 55-year-old woman who presented with a single nodule on her right arm. A systemic lymphoma was excluded by physical examination as well as by a PET-CT scan. The biopsy showed diffuse and dense lymphoid infiltration of the whole biopsy by a CD3+, CD4+, CD30+, ALK-negative ALCL. The atypical lymphocytes were intermingled with large amounts of dermal stromal mucin.
http://ift.tt/2ruyYDH
Superficial Papular Neuroma: Case Series of a New Entity R2
Abstract
Background
Dermal neural lesions arise in various circumstances and may be difficult to classify.
Methods
We describe the clinical, histopathologic and immunophenotypic features of a series of terminally-differentiated neural lesions not described previously, to our knowledge.
Results
Four cases from men aged 58–66 years were included. Some lesions reportedly bled, but no inciting trauma or prior biopsies were reported. None recurred after biopsy, with follow-up ranging from 19 to 113 months. All lesions were papular, with vertically-oriented S100-positive spindled cells and nerve fibers in the papillary dermis. Slight epidermal hyperplasia, dilated superficial thin-walled vessels and minimal to mild inflammation were seen in each. Fibers were uniformly fine in three cases, with slightly thicker central fibers in the fourth. Three had parakeratotic scale. None were associated with dermal fibrosis or adnexal proliferation. Neurofilament stained axons in each. EMA was negative in all cases. CD34, melan-A and HMB45 were negative when performed.
Conclusions
We report a small series of benign neural lesions and propose the name "superficial papular neuroma" for this distinct entity. Awareness is important to understand the clinical significance of these lesions and avoid misinterpretation that could lead to overtreatment, unnecessary work-up and increased cost.
http://ift.tt/2sNMAO5
Microsurgical reconstruction of pharyngoesophageal defects—case series and critical review of the literature
Abstract
Background
The reconstructive goals after laryngopharyngoesophagectomy are the reestablishment of the digestive conduit, achievement of adequate swallowing, and voice restoration. The pharyngoesophageal segment is typically reconstructed with a jejunal or a fasciocutaneous free flap. The gastro-omental free flap offers unique advantages in high-risk surgical fields. The best reconstructive option is still a matter of controversy. A retrospective study was conducted to assess the morbidity and functional results of microsurgical pharyngoesophageal reconstructions performed at our institution in the last 16 years and compare them with the literature.
Methods
A retrospective review was conducted on patients who underwent pharyngoesophageal microsurgical reconstruction between 1999 and 2016 at a single institution. The perioperative morbidity, mortality, and functional outcomes were evaluated and compared with similar published case series.
Results
A total of 14 free flap reconstructions were performed, after pharyngolaryngoesophagectomy or pharyngoesophageal radionecrosis. Patients received jejunal, radial forearm, gastro-omental, or anterolateral thigh flaps. There was one flap failure and one perioperative death. The rates of stricture and fistula were 8.3 and 16.7%, respectively. Oral diet was achieved in all patients and 71% have been considered to have an intelligible speech. At 1-year post-op, 71.4% of the patients were alive and the 3-year survival rate was 35.7%.
Conclusions
The reconstruction of the pharyngoesophageal segment requires safe, reliable, and functional single-stage solutions. Fasciocutaneous flaps seem to provide better functional results and allow a shorter hospital stay, while enteric flaps appear to be more reliable in adverse surgical fields.
Level of Evidence: Level IV, therapeutic study.
http://ift.tt/2ruXunS
Molar incisor hypomineralization: proportion and severity in primary public school children in Graz, Austria
Abstract
Objective
The aim of this study was to determine the proportion and severity of molar incisor hypomineralization (MIH) in primary school children in Graz (southeast of Austria).
Materials and methods
In 1111 children aged 6 to 12 years (mean age 9.0 ± 1.2), a wet examination of all teeth was performed by three trained examiners using a dental chair, optimal illumination, a dental mirror, and a dental explorer. All teeth with MIH lesions were registered so that different definitions of MIH were applicable. According to the European Academy of Pediatric Dentistry criteria that were considered valid at the time of the investigation, MIH was diagnosed when at least one first primary molar (FPM) was affected.
Results
MIH was present in 78 children (7.0%). In 64 children (5.8%), at least one molar and one incisor were affected (so-called M + IH). Additionally, in 9 children, only incisors were affected. In 7 affected children, teeth other than FPMs and incisors had MIH lesions. Almost an equal number of males (38) and females (40) were affected. The upper and lower molars were equally affected. The upper incisors were more frequently affected than the lower ones. Demarcated enamel opacities were the predominant types of defects.
Conclusion
The proportion of MIH was 7.0% in Graz, which is similar to other comparable trials.
Clinical relevance
This study has proven that MIH is an existing dental problem in Graz.
http://ift.tt/2sJ917w
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2tiRn7t
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2sJ1rJZ
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2tidzi7
Reference standards for next-generation sequencing
Technical errors can hamper the interpretation of next-generation sequencing (NGS) data, which poses a major challenge for the clinical application of this technology. This Review discusses how reference standards circumvent this issue by calibrating NGS measurements and evaluating diagnostic performance of NGS-based genetic tests.
http://ift.tt/2sG3AoQ
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...
http://ift.tt/2rLFoNZ
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.
http://ift.tt/2sgGMM4
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.
http://ift.tt/2rLMpOz
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.
http://ift.tt/2sgMDkq
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.
http://ift.tt/2rLxUKW
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.
http://ift.tt/2sh3m7m
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.
http://ift.tt/2rM5osi
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).
http://ift.tt/2sgWl6v
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.
http://ift.tt/2rLEPUr
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.
http://ift.tt/2rLCAjX
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.
http://ift.tt/2sh3ljO
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2tioc4D
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2sILUdj
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2tiqdxs
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2sIF9bg
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2tia3o7
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2tioc4D
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2sILUdj
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2tiqdxs
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2sIF9bg
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.
This article is protected by copyright. All rights reserved.
http://ift.tt/2tia3o7
Survey Datasets on the externalizing behaviors of primary school pupils and secondary school students in some selected schools in Ogun State, Nigeria
Publication date: Available online 16 June 2017
Source:Data in Brief
Author(s): Sheila A. Bishop, Enahoro A. Owoloko, Hilary I. Okagbue, Pelumi E. Oguntunde, Oluwole A. Odetunmibi, Abiodun A. Opanuga
This data article contains the partial analysis (descriptive statistics) of data obtained from 1770 primary school pupils and secondary school students in three Local Government Areas of Ogun State, Nigeria. The schools are either privately owned or public (government owned) schools. The aim of the field survey is to measure the level and patterns of externalizing behavior of the respondents. The data was collected using a standardized questionnaire. The questionnaire is a modification of Achenbach manual for Child behavior checklist (Achenbach, 2001) [1] and manual for Youth self-report (Achenbach, 2001) [2]. The questionnaire was designed to suit the demographic and socio-cultural nature of the target population. Analysis of the data can provide useful insights to the patterns of externalizing behavior of primary school pupils and secondary school students.
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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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Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.
| Related Articles |
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.
Case Rep Endocrinol. 2017;2017:3905905
Authors: Brar PC, Dingle E, Pappas J, Raisingani M
Abstract
We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).
PMID: 28620554 [PubMed]
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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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Assembling of bis(tpy)fluorenes with Zn2+ and Fe2+ ions into metallo-supramolecular polymers with highly efficient white-light emission
Publication date: Available online 17 June 2017
Source:Polymer
Author(s): Martin Hrma, Kristýna Šichová, Jan Svoboda, Jiří Vohlídal
Three fully π-conjugated bisterpyridines with fluorene unit in the central block were synthetized using the Suzuki–Miyaura coupling and transformed to corresponding conjugated metallo-supramolecular polymers (MSPs) with Zn2+ or Fe2+ ions. Assembling course of MSPs was investigated by absorption and emission spectroscopy, size-exclusion chromatography and viscometric measurements. Two systems with Zn2+ ions showed white emission with high quantum yields of fluorescence. The constitutional dynamics of Zn-polymers is fast while that of Fe-polymers is as slow that it allows effective separation of the polymer in SEC columns. Electronic spectra and SEC measurements proved that excess of Fe2+ ions results in their end-capping by these ions and shortening of the polymer chains. The phenomenon of shortening of the polymer chains by surplus of metal ions was additionally confirmed by viscometry measurements for both ion-couplers, which provides us new awareness about the length of MSPs with Zn2+ ions.
Graphical abstract
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Preparation, morphology and gas permeation properties of carbon dioxide-selective vinyl acetate-based Polymer/Poly(ethylene oxide-b-amide 6) blend membranes
Publication date: Available online 17 June 2017
Source:Polymer
Author(s): Mahdi Abdollahi, Morteza Khoshbin, Hossein Biazar, Ghader Khanbabaei
Blend membranes based on the Pebax 1657 and polyvinyl acetate (PVAc) or VAc/dibutyl maleate copolymer (P(VAc-co-DBM)) were prepared via solution casting. SEM micrographs did not show any phase separation in the macro-scale. FT-IR results showed that hydrogen bonding of NH groups with carbonyl groups in the polyamide (PA) microphases or ether groups in the poly(ethylene oxide) (PEO) microphases changes towards hydrogen bonding of NH groups with the VAc-based polymers in the blends. Melting temperature and crystallinity of the both PA and PEO microphases as well as the glass transition temperature of the PEO microphase decreased by adding VAc-based polymers. It was found that P(VAc-co-DBM) copolymer chains in the blend membrane containing 50 wt% copolymer have almost a similar tendency towards both PA and PEO microphases, while those in the blend membranes containing copolymer content lower than 50 wt% are mostly located between PA microphases. It was also deduced from DSC thermograms that a separate phase of VAc-based copolymer can be formed in the membranes containing copolymer content more than 20 wt%. Despite decreased CO2 permeability, selectivity of CO2/CH4 improved significantly from 17.6 for pure Pebax to 37.5 for a blend with 30 wt% copolymer. Results obtained from permeability test revealed that in the blends containing similar amounts of VAc-based polymers, the effect of the PVAc homopolymer is far more than that of the P(VAc-co-DBM) copolymer.
Graphical abstract
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Bio-based episulfide composed of cardanol/cardol for anti-corrosion coating applications
Publication date: Available online 17 June 2017
Source:Polymer
Author(s): Jie Lv, Zhuoyu Liu, Jie Zhang, Jizhen Huo, Yingfeng Yu
Bio-based materials from Cardanol/cardol with episulfide group (CCES) and epoxy group (CCEO) were synthesized and further blended with commercial bisphenol-A diglycidyl ether type epoxy resin (DGEBA) for anti-corrosion coating application. The curing behavior of CCEO and CCES confirmed that episulfide exhibited a faster curing rate and higher curing conversion than epoxide. Anticorrosion properties of composite system CCEO/CCES and DGEBA were also carried out. Equilibrium water content of CCES-DGEBA blend was much lower than neat DGEBA and CCEO-DGEBA composite system in water absorption test, which met agreement with that CCES-DGEBA blend system revealed better adhesive to the metal compared with DGEBA and CCEO-DGEBA blend in lap sheer strength assessment. Further, CCES-DGEBA blend with 20 wt% of CCES exhibited optimized performance in corrosion resistance as it possessed the higher impedance modulus at low frequencies in EIS bode plots, lowest corrosion current and the highest corrosion voltage in Tafel test.
Graphical abstract
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The influences of a novel shear layer-spherulites layer alternated structure on the mechanical properties of injection-molded isotactic polypropylene
Publication date: Available online 17 June 2017
Source:Polymer
Author(s): FengYi Hou, DaShan Mi, Man Zhou, Jie Zhang
In general, the strength of injection molded objects increases with shear layer thickness or shish-kebab content. However, the effect of the change of the position of shear layer and spherulites layer on the mechanical properties is still unclear, when their thickness are fixed. To answer this question, a novel multilayer structure in which the shear layer mainly containing shish-kebab structure and spherulites layer consisted of spherulites stack alternatively was prepared by a self-designed multi-flow vibration injection molding (MFVIM) device. The results demonstrate that the impact strength can be enhanced significantly by such alternating structure, possibly because this structure is benefit for crack deflection and consequently induces more plastic deformation regions, through altering stress transfer direction and stress distribution. The tensile strength, however, is only affected little by such structure.
Graphical abstract
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Ribosomes Dance to a Daily Rhythm
Publication date: Available online 17 June 2017
Source:Trends in Biochemical Sciences
Author(s): Aishwarya Iyer, Ingrid Grummt
Sinturel et al. demonstrate that feeding–fasting rhythms and light–dark cycles direct daily changes in liver mass and cell size. These feeding–fasting- and light–dark-driven diurnal fluctuations are controlled by an unconventional mechanism that affects ribosome assembly and protein levels during the active phase.
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Forked Columellar Strut: An Adjunctive Technique for Correction of Caudal Septal Deviation
http://ift.tt/2s920wD
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