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Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Marliane Batista Campos, Luciana Vieira do Rêgo Lima, Ana Carolina Stocco de Lima, Thiago Vasconcelos Dos Santos, Patrícia Karla Santos Ramos, Claudia Maria de Castro Gomes, Fernando Tobias Silveira
Leishmania (V.) braziliensis and Leishmania(L.) amazonensis are the most pathogenic agents of American Cutaneous Leishmaniasis in Brazil, causing a wide spectrum of clinical and immunopathological manifestations, including: localized cutaneous leishmaniasis (LCLDTH+/++), borderline disseminated cutaneous leishmaniasis (BDCLDTH±), anergic diffuse cutaneous leishmaniasis (ADCLDTH-), and mucosal leishmaniasis (MLDTH++++). It has recently been demonstrated, however, that while L. (V.) braziliensis shows a clear potential to advance the infection from central LCL (a moderate T-cell hypersensitivity form) towards ML (the highest T-cell hypersensitivity pole), L...
2018: PloS One
Marco Pio La Manna, Valentina Orlando, Paolo Li Donni, Guido Sireci, Paola Di Carlo, Antonio Cascio, Francesco Dieli, Nadia Caccamo
We used the Luminex Bead Array Multiplex Immunoassay to measure cytokines, chemokines and growth factors responses to the same antigens used for RD1-based Interferon γ Release Assay (IGRA) test. Seventy-nine individuals, 27 active TB, 32 latent infection subsets, 20 individuals derivative purified protein (PPD) negative (subjects that do not have any indurative cutaneous reaction after 72 hrs of intradermal injection of PPD) and with other pulmonary disease were retrospectively studied. Forty-eight analytes were evaluated by Luminex Assay in plasma obtained from whole blood stimulated cells...
2018: PloS One
Annie Liu, Alexis Botkin, Christian Murray, David Goldstein, Stefan O P Hofer, Nowell Solish, Jessica Kitchen, An-Wen Chan
BACKGROUND: Lentigo maligna is an in situ form of cutaneous melanoma that commonly arises on the head and neck. Various surgical and nonsurgical treatment options are available but no randomized trials exist to guide practice. OBJECTIVE: To determine the current treatment practices for lentigo maligna of the head and neck in Ontario, Canada. MATERIALS AND METHODS: Cross-sectional survey of dermatologists, plastic surgeons, and head and neck surgeons...
March 13, 2018: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
A A Yarovoy, O V Golubeva, S S Kleyankina, T V Yanchenko
Juvenile xanthogranuloma (JX) is a benign growth of fibrohistiocytoma range that mainly affects children. The most frequent localization of the tumor is skin integument. Non-cutaneous forms of JX are found in 5-10% of cases; they are manifested as deep lesions of soft tissues, involvement of various organs (oropharynx, lungs, liver, spleen, pericardium, gastrointestinal tract, central nervous system, bone marrow) including the organ of vision. JX can develop in any part of the eye and its appendages. Taking into consideration how rare this pathology is, its diagnosis and treatment are complicated...
2018: Vestnik Oftalmologii
S P Paul
Objective There remains confusion between Langer's lines and wrinkle lines with respect to the optimal orientation of elliptical excisions on the trunk. This study sought to determine the directions of wound closure that would result in least wound tension after skin lesion excisions. Materials and methods Some 1181 consecutive skin lesion excisions were investigated (age range 13-95 years, median 64 years) using a tensiometer to determine directions of least wound tension. These lines were mapped. Skin tension measurements were taken during the procedure and analysed...
March 15, 2018: Annals of the Royal College of Surgeons of England
Naoto Kuyama, Yasuhiro Hamatani, Satsuki Fukushima, Yoshihiko Ikeda, Eri Nakai, Atsushi Okada, Hiroyuki Takahama, Makoto Amaki, Takuya Hasegawa, Yasuo Sugano, Hideaki Kanzaki, Tomoyuki Fujita, Hatsue Ishibashi-Ueda, Satoshi Yasuda, Toshihisa Anzai, Junjiro Kobayashi
The left ventricle is a less frequent location of cardiac myxomas overall. Meanwhile, cardiac myxomas related to Carney complex (CNC), which is a multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumours, more frequently occur in the left ventricle compared with sporadic cardiac myxomas. Herein, we report a case of a 20-year-old woman with CNC who underwent complete surgical excision of a large and mobile left ventricular myxoma. In our case, echocardiography performed 4 years earlier was normal...
March 15, 2018: ESC Heart Failure
Jun Ma, Bin Chen, Dong Li, Yue Zhang, Zhaoxia Ying
Port-wine stain (PWS) birthmark is a congenital microvascular malformation of the skin. A 1064-nm Nd:YAG laser can achieve a deeper treatment, but the weak absorption by blood limits its clinical application. Multiple laser pulses (MLPs) are a potential solution to enhance the curative effect of a Nd:YAG laser. To reduce the pulse number (pn ) required for the thermal destruction of the blood vessel, the effect of glucose in conjunction with MLP was investigated. In vivo experiments were performed on a dorsal skin chamber model...
March 14, 2018: Lasers in Medical Science
Wimonchat Tangamornsuksan, Manupat Lohitnavy
Importance: Dapsone-induced hypersensitivity syndrome (DHS) is a life-threatening adverse drug reaction. Based on available epidemiologic studies, HLA genotypes may play an important role in DHS. Objective: To assess the association between HLA-B*1301 and dapsone-induced cutaneous adverse drug reactions (cADRs). Data Sources: Human studies investigating associations between HLA-B*1301 and dapsone-induced cADRs were systematically searched without language restriction from the inception of each database until September 12, 2017, in PubMed, the Human Genome Epidemiology Network), and the Cochrane Library...
March 14, 2018: JAMA Dermatology
Wei-Wen Su
Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by facial cutaneous venous dilatation (port-wine stain), leptomeningeal angioma, and ocular abnormalities. Here we report a case of SWS who experienced acute primary angle-closure in the same side of the nevus flammeus. Observations: A 64-years-old female patient with SWS port wine stain on the left side of her face was referred to our ER for acute primary angle-closure (PAC). The IOP was 64 mmHg in the left eye (12 mmHg in OD) and the visual acuity was 20/100...
June 2018: American Journal of Ophthalmology Case Reports
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
Julia P Slopsema, John M Boss, Lane A Heyboer, Carson M Tobias, Brooke P Draggoo, Kathleen E Finn, Payton J Hoff, Katharine H Polasek
Background: Electrical stimulation is increasingly relevant in a variety of medical treatments. In this study, surface electrical stimulation was evaluated as a method to non-invasively target a neural function, specifically natural sensation in the distal limbs. Method: Electrodes were placed over the median and ulnar nerves at the elbow and the common peroneal and lateral sural cutaneous nerves at the knee. Strength-duration curves for sensation were compared between nerves...
2018: Open Biomedical Engineering Journal
Bruno Niemeyer de Freitas Ribeiro, Bernardo Carvalho Muniz, Tiago Medina Salata, Diogo Goulart Corrêa, Edson Marchiori
No abstract text is available yet for this article.
January 2018: Radiologia Brasileira
Cecilie Okholm, Martin Frendø, Katalin Kiss, Christian von Buchwald
BACKGROUND Facial pain and numbness are common symptoms with a variety of causes; rarely, it is an initial sign of perineural infiltration of malignant tumors. CASE REPORT Here, we report 3 challenging cases, all presenting with pain and numbness of the cheek as the primary symptoms. Upon referral, there were neither signs of severe illness nor information about previous malignant diseases, while the diagnostic work-ups revealed additional involvement of the facial nerve in 2 of the cases. Surgical removal of the perineural tissue around the infraorbital nerve revealed perineural invasion by a squamous carcinoma...
March 15, 2018: American Journal of Case Reports
Susanna Bacigaluppi, Pietro Fiaschi, Alessandro Prior, Nicola L Bragazzi, Paolo Merciadri, Sergio Gennaro
Haemangiomas are rare benign tumors developing in cutaneous tissue and sometimes even in deep tissues. The existing literature reviewed, focusing on patients' age and gender, clinical features, diagnostics used, treatment, and, where available, follow-up data. Our review is the largest available at present time, including an additional case with a total of 41 patients.
March 14, 2018: British Journal of Neurosurgery
Leila M Lopes-Bezerra, Hector M Mora-Montes, Yu Zhang, Gustavo Nino-Vega, Anderson Messias Rodrigues, Zoilo Pires de Camargo, Sybren de Hoog
The description of cryptic species with different pathogenic potentials has changed the perspectives on sporotrichosis. Sporothrix schenckii causes a benign chronic subcutaneous mycosis, Sporothrix brasiliensis is highly virulent, and Sporothrix globosa mainly causes fixed cutaneous lesions. Furthermore, S. brasiliensis is the prevalent species related to cat-transmitted sporotrichosis. Sources of infection, transmission, and distribution patterns also differ between species, and variability differs between species because of different degrees of clonality...
April 1, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
Camilla Pasternack, Eriika Mansikka, Katri Kaukinen, Kaisa Hervonen, Timo Reunala, Pekka Collin, Heini Huhtala, Ville M Mattila, Teea Salmi
Dermatitis herpetiformis (DH) is a cutaneous manifestation of coeliac disease. Increased bone fracture risk is known to associate with coeliac disease, but this has been only scantly studied in DH. In this study, self-reported fractures and fracture-associated factors in DH were investigated and compared to coeliac disease. Altogether, 222 DH patients and 129 coeliac disease-suffering controls were enrolled in this study. The Disease Related Questionnaire and the Gastrointestinal Symptom Rating Scale and Psychological General Well-Being questionnaires were mailed to participants; 45 out of 222 (20%) DH patients and 35 out of 129 (27%) of the coeliac disease controls had experienced at least one fracture ( p = 0...
March 14, 2018: Nutrients
Sabrina Gmuca, JiaDe Yu, Pamela F Weiss, James R Treat, David D Sherry
Erythema ab igne (EAI) is a cutaneous finding caused by prolonged heat exposure and is characterized by a reticular, brownish-pigmented, often telangiectatic dermatosis. The eruption is reminiscent of livedo reticularis, which is typically seen in the setting of a number of rheumatologic conditions, most prominently vasculitis. Identification of key features distinguishing EAI from livedo reticularis can aid in the diagnosis of EAI and correct elucidation of the underlying etiology. Our patient presented with heating pad-induced EAI in the setting of chronic pain...
March 12, 2018: Pediatric Emergency Care
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