A novel succinate dehydrogenase subunit B germline variant associated with head and neck paraganglioma in a Dutch kindred: a family based study

Abstract

Objective

In the Netherlands, the majority of hereditary head and neck paragangliomas (HNPGL) are caused by germline variants in the succinate dehydrogenase genes (SDHD, SDHB, SDHAF2). Here, we evaluate a four-generation family linked to a novel SDHB gene variant with the manifestation of a HNPGL.

Design

a family based study.

Setting

The VU University Medical Center (VUmc) Amsterdam, a tertiary clinic for Otolaryngology and Head and Neck Surgery.

Participants and main outcome measures

The index patients presented with an embryonic rhabdomyosarcoma and a non-Hodgkin lymphoma. Array-based comparative genomic hybridization (aCGH) analysis and multiplex ligation-dependent probe amplification (MLPA) revealed a novel deletion of exon 1-3 in the SDHB gene, suspected to predispose to paraganglioma (PGL)/pheochromocytoma (PHEO) syndrome type 4. Subsequently, genetic counseling and DNA testing was offered to all family members at risk. Individuals that tested positive for this novel SDHB gene variant were counseled and additional clinical evaluation was offered for the identification of HNPGL and/or PHEO.

Results

The DNA of 18 family members was tested, resulting in the identification of 10 carriers of the exon 1-3 deletion in the SDHB gene. One carrier was diagnosed with a carotid body PGL and serum catecholamine excess, which was surgically excised. Negative SDHB immunostaining of the carotid body tumour confirmed that it was caused by the SDHB variant. The remaining 9 carriers showed no evidence of PGL/PHEO.

Conclusion

Deletion of exon 1-3 in the SDHB gene is a novel germline variant associated with the formation of hereditary HNPGL.

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Clinical evaluation of a new laser-ablated titanium implant for bone-anchored hearing in 34 patients: 1 year experience

Abstract

In specific patient groups, i.e. children or patients with compromised bone quality, the incidence of implant loss of for bone conduction hearing implants is much higher; further implant optimization is, therefore, needed.

The new laser-ablated titanium implant for bone-anchored hearing implantation has an enlarged contact area for osseointegration compared to the standard implant, aiming to improve implant loss rates.

This retrospective multicenter study is the first to assess the performance of this implant in healthy adults 1 year after surgery.

With excellent survival rates, good soft tissue tolerability, and few complications, the implant is safe to use in healthy adults.

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Erythema elevatum diutinum with pustule formation: An unusual finding

Parietal scalp is another affected area in female pattern hair loss: an analysis of hair density and hair diameter

Smartphone apps for skin cancer diagnosis: Implications for patients and practitioners

Abstract

A research team at Stanford recently reported that their deep convolutional neural network had learned to classify skin cancer with a level of competence equivalent to that of board-certified dermatologists. It is possible that in time, and using larger datasets, such software may surpass the average doctor in diagnostic ability, and that highly accurate technology may be available to both clinicians and patients via smartphones. This technology is poised to change the landscape of skin cancer diagnosis for both physicians and patients, but whether such changes are beneficial will depend on how they are regulated and implemented.

Giant tumour on the foot

Comparison of skin cancers in liver and renal transplant recipients: Results of a prospective study in an Australian tertiary referral centre

Abstract

Background/Objectives

Organ transplant recipients (OTR) have an increased risk of skin cancers compared with the general population.

Methods

A prospective study of renal (RTR) and liver transplant recipients (LTR) was conducted in a single New South Wales tertiary referral centre over 60 months. Initial and subsequent visit data were recorded in our transplant database. Only patients with a minimum of 11 months follow up were included.

Results

Altogether 142 RTR and 88 LTR were included in the analysis. Compared with RTR, the median age of liver transplant recipients was higher (64 vs 57 years), more men were patients (73 vs 60%) and there were higher rates of high-risk skin types (54 vs 33%) and heavy sun exposure (43 vs 30%). RTR developed 304 non-melanoma skin cancers (NMSC) with a squamous cell carcinoma:basal cell carcinoma ratio of 1.7:1. LTR developed 205 NMSC with a squamous cell carcinoma:basal cell carcinoma ratio of 1.6:1. The odds ratio of developing NMSC in LTR:RTR was 1.8:1 (95% CI: 1.02–3.11, P = 0.044) on univariate analysis but there was no difference on multivariate analysis. A previous history of NMSC, age, time from transplant from first visit, skin phenotype and previous sun exposure were significant risk factors for developing NMSC.

Conclusions

Liver transplant recipients are not at a lower risk of NMSC than RTR. Our study supports routine and regular post-transplant skin surveillance of all LTR, like other OTR.

Histiocitosis intralinfática, a propósito de 2 casos

Publication date: January–February 2018
Source:Actas Dermo-Sifiliográficas, Volume 109, Issue 1
Author(s): M.E. Gómez-Sánchez, J.M. Azaña-Defez, M.L. Martínez-Martínez, M.T. López-Villaescusa
La histiocitosis intralinfática es un proceso benigno caracterizado por placas eritematosas mal delimitadas, a veces reticuladas, otras con nódulos o vesículas en su interior. Su etiopatogenia parece estar relacionada con procesos inflamatorios crónicos en el área afectada, cirugía previa o con enfermedades sistémicas, sobre todo con la artritis reumatoide. Presentamos 2 nuevos casos, ambos asociados a cirugía articular del área afecta y enfermedad osteoarticular (osteocondromatosis sinovial primaria y artritis reumatoide). Esta entidad tiene un comportamiento crónico y no existe un tratamiento específico. En los 2 casos presentados se plantearon distintas opciones terapéuticas, mostrando uno de ellos una respuesta espectacular al tratamiento con pentoxifilina oral junto con tacrolimus tópico.Intralymphatic histiocytosis is a benign condition characterized by poorly defined erythematous plaques (sometimes forming a reticular pattern) as well as the presence of nodules and vesicles. Its etiology and pathogenesis appear to be related to chronic inflammation in the affected area, prior surgery, or systemic disease, particularly rheumatoid arthritis. We report on 2 new cases, both associated with joint surgery in the affected area and osteoarticular disease (primary synovial osteochondromatosis and rheumatoid arthritis). This is a chronic disease and there is no specific treatment. Different treatment options were chosen in the 2 cases described. A spectacular response to treatment with oral pentoxifylline and topical tacrolimus was observed in 1 of the patients.

Tumoración en cuero cabelludo de gran tamaño de larga evolución con adenopatías ipsilaterales

Publication date: January–February 2018
Source:Actas Dermo-Sifiliográficas, Volume 109, Issue 1
Author(s): A. Hermosa-Gelbard, C. Moreno García del Real, S. Vañó-Galván

Un tumor rosado, hiperplasia angiolinfoide con eosinofilia

Publication date: January–February 2018
Source:Actas Dermo-Sifiliográficas, Volume 109, Issue 1
Author(s): I. Pérez-López, A. Martínez-López, P. Aguayo-Carreras, M.J. Naranjo-Díaz

Glyphosate, a chelating agent—relevant for ecological risk assessment?

Abstract

Glyphosate-based herbicides (GBHs), consisting of glyphosate and formulants, are the most frequently applied herbicides worldwide. The declared active ingredient glyphosate does not only inhibit the EPSPS but is also a chelating agent that binds macro- and micronutrients, essential for many plant processes and pathogen resistance. GBH treatment may thus impede uptake and availability of macro- and micronutrients in plants. The present study investigated whether this characteristic of glyphosate could contribute to adverse effects of GBH application in the environment and to human health. According to the results, it has not been fully elucidated whether the chelating activity of glyphosate contributes to the toxic effects on plants and potentially on plant–microorganism interactions, e.g., nitrogen fixation of leguminous plants. It is also still open whether the chelating property of glyphosate is involved in the toxic effects on organisms other than plants, described in many papers. By changing the availability of essential as well as toxic metals that are bound to soil particles, the herbicide might also impact soil life, although the occurrence of natural chelators with considerably higher chelating potentials makes an additional impact of glyphosate for most metals less likely. Further research should elucidate the role of glyphosate (and GBH) as a chelator, in particular, as this is a non-specific property potentially affecting many organisms and processes. In the process of reevaluation of glyphosate its chelating activity has hardly been discussed.

Correlation Between Incisional Biopsy Histological Subtype and a Mohs Surgery Specimen for Nonmelanoma Skin Cancer

Publication date: January–February 2018
Source:Actas Dermo-Sifiliográficas (English Edition), Volume 109, Issue 1
Author(s): E.C. Cortés-Peralta, J. Ocampo-Candiani, O.T. Vázquez-Martínez, I.M. Gutiérrez-Villarreal, I. Miranda-Maldonado, V. Garza-Rodríguez
BackgroundHistological diagnosis of a clinically suspected nonmelanoma skin cancer (NMSC) is recommended before treatment. For NMSC, concordance between the histological subtype of the preoperative biopsy and the excision specimen of basal cell carcinoma (BCC) has been reported to range from 10% to 81%. No large study on the concordance between NMSC histology seen in a preoperative biopsy with the following tumour specimen from Mohs micrographic surgery (MMS) has been performed in a Latin American population.ObjectiveThe aim of this study was to analyse and compare the histological subtype of the incisional biopsies reviewed by the dermatopathologist with the histological subtype of the tumour specimen obtained during MMS interpreted by the dermatopathologist and the Mohs surgeon.MethodsA retrospective analysis of 320 NMSC was performed. The interobserver correlation was based on kappa values.ResultsThe mean weighted kappa value between the preoperative NMSC biopsy and intraoperative histological subtype of the tumour specimen from MMS analysed by the Mohs surgeon and the dermatopathologist was 0.22 and 0.24, respectively. The correlation in the histologic subtype of the intraoperative tumour specimen from MMS that was interpreted by the dermatopathologist and Mohs surgeon was 0.58.ConclusionsDermatologists need to be aware of the limited value of incisional biopsies to accurately diagnose the histological subtype of a NMSC. The concordance rate in the histological diagnosis of the tumour specimens that were obtained from MMS between the Mohs surgeon and the dermatopathologist is moderate. However, the correlation is low compared with incisional biopsy subtypes.

Reply To: The Possible Combined Action of Different Trigger Agents in Rosacea

Publication date: January–February 2018
Source:Actas Dermo-Sifiliográficas (English Edition), Volume 109, Issue 1
Author(s): Á. Hernández-Martín

Male breast cancer mimicking melanoma

Publication date: January–February 2018
Source:Actas Dermo-Sifiliográficas (English Edition), Volume 109, Issue 1
Author(s): T. Kueder Pajares, A.J. García Malinis, P. Manchado López

Prevalence of Actinic Keratosis in Different Regions of Spain: The EPIQA Study

Publication date: January–February 2018
Source:Actas Dermo-Sifiliográficas (English Edition), Volume 109, Issue 1
Author(s): C. Ferrándiz-Pulido, M. Lera-Imbuluzqueta, C. Ferrándiz, M.J. Plazas-Fernandez

The Possible Combined Action of Different Trigger Agents in Rosacea

Publication date: January–February 2018
Source:Actas Dermo-Sifiliográficas (English Edition), Volume 109, Issue 1
Author(s): G. Ciccarese, A. Parodi, A. Rebora, F. Drago

PET and MRI in gliomas: progress and perspectives

Stakeholders’ Perspectives on Postmastectomy Breast Reconstruction: Recognizing Ways to Improve Shared Decision Making

Background: Postmastectomy breast reconstruction (PMBR) is an elective, preference-sensitive decision made during a stressful, time-pressured period after a cancer diagnosis. Shared decision making (SDM) can improve decision quality about preference-sensitive choices. Stakeholders' perspectives on ways to support PMBR decision-making were explored. Methods: Forty semi-structured interviews with stakeholders (20 postmastectomy patients, 10 PMBR surgeons, 10 PMBR nurses) were conducted. Clinicians were recruited from diverse practices across the United States. Patients were recruited using purposive sampling with varying PMBR experiences, including no reconstruction. The interview guide was based on an implementation research framework. Themes were identified using grounded theory approach, based on frequency and emotive force conveyed. Results: Engagement in SDM was variable. Some patients wanted more information about PMBR from clinicians, particularly about risks. Some clinicians acknowledged highlighting benefits and downplaying risks. Many patients felt pressured to make a choice by their clinicians. Clinicians who successfully engaged patients through decisions often used outside resources to supplement conversations. Conclusions: Patient–clinician trust was critical to high-quality decisions, and many patients expressed decision regret when they were not engaged in PMBR discussions. Patients often perceived a race- or age-related bias in clinician information sharing. Interventions to support SDM may enhance decision quality and reduce decision regret about PMBR, ultimately improving patient-centered care for women with breast cancer.

Creation of Nepal’s First Skin Bank: Challenges and Outcomes

Background: In Nepal, burn trauma causes more than 55,000 injuries each year. Burn-related mortality is high in Nepal, in part due to lack of allograft, leading to high infection rates. To address this challenge, our collaboration between Kirtipur Hospital, America Nepal Medical Foundation, Stanford University, and ReSurge International established Nepal's first skin bank. Methods: We identified 3 major tasks to create a sustainable skin banking program: 1) identify and acquire the equipment and personnel needed to collect, process, store, and graft cadaveric skin for burn injuries; 2) develop safe donation protocols and documentation tools that remain feasible for low-resource settings; and 3) develop a long-term awareness program to educate the Nepali people on skin donation, a previously foreign concept. Results: Kirtipur Hospital acquired the necessary equipment and materials for the skin bank through a combination of local and international fundraising efforts. Existing U.S. skin banking protocols were adapted for the Nepali setting and piloted on potential patients, donors, and physicians. For the first time in the hospital's history, patients with > 40% total body surface area burns were successfully treated with extensive allografts. Conclusions: It is feasible to create a skin bank in a country with no tradition of allograft skin use. Long-term sustainability now depends on spreading awareness and education in the Kathmandu Valley to overcome religious and cultural barriers that have hindered donor recruitment. Our low-cost and high-impact skin bank provides a model to expand this system to other hospitals both within Nepal and beyond.

Effects of Autologous Fat and ASCs on Swine Hypertrophic Burn Scars: A Multimodal Quantitative Analysis

Background: Hypertrophic scar formation is unpredictable and poorly understood, afflicting both the pediatric and adult populations. Treatment methods with conservative and invasive approaches have low rates of compliance and high rates of morbidity. The purpose of this study was to test a reproducible scar model and investigate a new technique of scar modification through the use of adipose- derived progenitor stromal cells (ASCs). Methods: Twenty thermal deep-partial thickness contact burns were created on the dorsum of three 8-week-old domestic swine and allowed to mature for 10 weeks. Scars were then injected with 2 cc saline, expanded autologous ASCs, or 2 cc fresh lipoaspirate and sampled at 2 week intervals up to 10 weeks postinjection. Volumetric analysis with a 3-D scanner, mechanical elasticity testing through negative pressure transduction, and standardized photography evaluation with Image J was performed. RNA sequencing was performed on scar tissue samples, cultured cells, and fresh lipoaspirate to determine relevant gene transcription regulation. Immunohistochemistry was used to verify expression level changes within the scars. Results: Volumetric analysis demonstrates a reduction in average scar thickness at 6 weeks when injected with ASCs (−1.6 cc3) and autologous fat (−1.95 cc3) relative to controls (−0.121 cc3; P