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https://www.readbyqxmd.com/read/29776933/primary-cutaneous-osteosarcoma-of-the-scalp
#1
Yusra Al-Janabi, Khalid Al-Janabi, Kallirroi Tzafetta, Mahir Petkar
Primary cutaneous extraskeletal osteosarcoma (PCEO) is a rare malignant neoplasm with less than 20 cases reported in the literature to date. Presenting as a nodule or mass on the skin, commonly at sites of previous trauma or radiation, these lesions are differentiated from other neoplasms through their characteristic microscopic appearance. This report highlights a case of PCEO in a 75-year-old man with a history of squamous cell carcinoma (SCC) of the scalp. Histological examination of a scalp nodule in the region of a previously excised SCC revealed proliferation of osteoid surrounded by malignant osteocytes...
May 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29775967/bilateral-breast-calciphylaxis-in-a-patient-who-survived-earlier-extensive-tissue-necrosis-5-years-previously-a-case-report
#2
E M J Verstappen, A J G Maaskant-Braat, M R Scheltinga
INTRODUCTION: Calciphylaxis is a rare condition including patchy dermal necrosis that mostly affects chronic hemodialysis patients. The syndrome usually heralds impending death although patients may survive following a set of measures including an adapted dialysis regimen. The present case is a unique patient who recovered from an earlier episode of upper leg calciphylaxis 5 years previously but developed fatal bilateral breast necrosis. PRESENTATION OF CASE: A 69 year old Caucasian woman with a history of atrial fibrillation, hypertension, CVA, hyperparathyroidectomy for secondary hyperparathyroidism and end stage renal disease with hemodialysis recovered in 2012 from extensive symptomatic left upper leg necrosis due to calciphylaxis...
May 7, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29775550/palliative-sedation-with-oral-medicines-in-an-infant-with-generalized-severe-junctional-epidermolysis-bullosa
#3
Keith P Pasichow, Meg Frizzola, Elissa G Miller
Generalized severe junctional epidermolysis bullosa is a rare mechanobullous skin disorder that is uniformly fatal. We present the case of an infant who received palliative pain management and ultimately proportionate palliative sedation. However, because of the extent of the patient's skin disease, we were unable to provide palliative medication through parenteral routes. We discuss the provision of enteral palliative sedation, including the pharmacology, and creative use of medications to achieve sufficient palliation in this difficult and unique situation...
May 18, 2018: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29775011/-hyper-ige-syndromes
#4
REVIEW
Y Y He, B Liu, X P Xiao
A hyper-IgE syndrome is a rare immunodeficiesncy disease, often accompanied by high serum IgE. It often characterized by facial features, repeated skin infections, eczema and pulmonary infection, including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). AR-HIES is caused by mutations in STAT3, which is presented as connective tissue, bone, vascular disease, and high brain white matter signal. AD-HIES is mainly caused by mutations in DOCK8 and TYK2, which is presented as severe viral infection and poor prognosis...
June 5, 2017: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29774605/mixed-infections-are-a-critical-factor-in-the-treatment-of-superficial-mycoses
#5
A Gawaz, G Weisel
BACKGROUND: Superficial fungal infections of the skin, nails and hair are common with Trichophyton rubrum and Candida albicans being the main pathogens. Yet, in some patients, mycological cultures show growth of more than one fungal agent in the same anatomical region. OBJECTIVE: This study analyses prevalence, frequency and fungal agents found in superficial fungal mixed infections and discusses consequences for diagnostics and treatment. METHODS: Mycological data obtained between January 2006 to December 2015 from clinical specimens from a total cohort of 7733 patients with suspected fungal infections were retrospectively analysed...
May 17, 2018: Mycoses
https://www.readbyqxmd.com/read/29774541/pityriasis-rotunda-a-clinical-study-in-jordan-experience-of-10-years
#6
Khitam Al-Refu, Awad Al-Tarawneh, Hussein Odeibat
BACKGROUND: Pityriasis rotunda is a rare skin disease characterized by the presence of multiple, round or oval, sharply demarcated hyperpigmented scaly patches. It has been described in Japan, South Africa, and in some other countries. The cause of pityriasis rotunda is usually idiopathic but may be associated with certain internal malignancy or systemic diseases. OBJECTIVE: The aim of this study is to describe this rare entity in Jordan in a retrospective study during the last 10 years...
May 17, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29774221/magnetic-resonance-imaging-findings-for-differential-diagnosis-of-perianal-plexiform-schwannoma-case-report-and-review-of-the-literature
#7
Xue-Liang Sun, Ke Wen, Zhi-Zhong Xu, Xiao-Peng Wang
Plexiform schwannoma is an extremely rare variant of schwannoma, accounting for approximately 5% of cases. Due to the rarity and lack of typical symptoms, signs and radiological images, a definite diagnosis of plexiform schwannoma may not be made by clinicians prior to biopsy. In the present study, we report the first case (to our knowledge) of perianal plexiform schwannoma arising from the overlapped skin of the ischioanal fossa, and we propose an intratumorally nonenhanced circumferential capsule dividing the tumour into multiple homogeneously enhanced nodules as a magnetic resonance imaging feature to aid in the differential diagnosis of plexiform schwannoma from ancient schwannoma, cavernous haemangioma, liposarcoma and plexiform neurofibroma...
May 16, 2018: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29773231/biologics-in-sapho-syndrome-a-systematic-review
#8
REVIEW
Dimitrios Daoussis, Georgia Konstantopoulou, Pantelis Kraniotis, Lazaros Sakkas, Stamatis-Nick Liossis
BACKGROUND: The SAPHO syndrome is a relatively rare clinical entity characterized by a wide range of dermatological and musculoskeletal manifestations. Biologics have been used in cases refractory to conventional treatment. METHODS: We present herein a patient with refractory to treatment SAPHO syndrome who exhibited a dramatic and fast response to IL-17 blockade. Additionally, we performed a systematic review of all cases of patients with SAPHO syndrome treated with biologics to date...
April 17, 2018: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29772623/-a-case-of-seminal-vesicle-cyst-incidentally-diagnosed-during-rupture-of-abdominal-subcutaneous-abscess
#9
Shinya Somiya, Masahiro Tamaki, Shohei Fujikawa, Yuya Yamada, Yuki Kamiyama, Toshio Kanaoka
Seminal vesicle cyst is a rare disease and is often asymptomatic. We present a case of huge seminal vesicle cyst connected to the abdominal wall and observed as a subcutaneous abscess. An 89-year-old man presented with asymptomatic spontaneous rupture of the left lower abdominal subcutaneous abscess. Computed tomography (CT) showed a relatively low intensity cystic mass located in the Retzius' space just below the abscess, surrounding the right bladder wall laterally and connecting to the right seminal vesicle posteriorly...
April 2018: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/29772605/response-to-letter-by-aaron-hanukoglu-et-al
#10
Ihsan Turan, Ali Kemal Topaloglu, Bilgin Yuksel
We appreciate the valuable comments on our article by Hanukoglu and Hanukoglu. With regard to cutaneous involvement in systemic pseudohypoaldosteronism (sysPHA), we agree with Hanukoglu and Hanukoglu in that these co-occurrences are not rare. Indeed, in our study, three of four patients with sysPHA1 showed skin manifestations. This article is protected by copyright. All rights reserved.
May 17, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29770234/a-case-of-congenital-syphilis-presenting-with-unusual-skin-eruptions
#11
Alexander K C Leung, Kin Fon Leong, Joseph M Lam
Once believed to be a rare disease in developed countries, recent data suggest that there is a surge in incidence of congenital syphilis in many developed countries. Diagnosis of congenital syphilis can be difficult because more than two-thirds of affected infants are asymptomatic at birth, and signs of symptomatic infants may be nonspecific or subtle. On top of this, some affected infants may have atypical presentations. Familiarity with the diverse presentations is essential to diagnosis. We report a 2-week-old male infant with congenital syphilis whose cutaneous manifestations included diffuse, erythematous keratoderma with desquamation and fissures on his hands and feet, multiple linear scaly fissures at the angles of his mouth, and onychauxis of the fingernails and toenails To our knowledge, diffuse, erythematous keratoderma of the hands and feet and thick nails have not been reported previously in congenital syphilis...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29770226/massive-haemorrhagic-blister-formation-following-total-knee-arthroplasty
#12
Aadhar Sharma, Padmanabhan Subramanian, Sunil Shah, Mohan Remani, Muhammad Shahid
Skin blistering following trauma is not uncommon; however, large haemorrhagic bullous blisters following total knee arthroplasty is relatively rare and not widely documented in the literature.
May 2018: JRSM Open
https://www.readbyqxmd.com/read/29770208/case-report-polyarteritis-nodosa-or-complicated-henoch-schonlein-purpura-a-rare-case
#13
Sajad Hasanzadeh, Seyedeh Maryam Alavi, Elahe Masnavi, Maryam Rohani, Saeid Jokar
Background: Polyarteritis nodosa (PAN) is a vasculitis that affects medium sized arteries. PAN is a rare disease and requires a high vilgilance for diagnosis. For instance, PAN and Henoch-Schonlein purpura (HSP) have narrowing differential diagnosis. Here, we report a case of PAN. Case presentation : Our patient was a 65 year old woman that came to hospital due to abdominal pain and skin lesion on the right upper and right lower extremities. All rheumatologic tests were negative. A biopsy of the skin lesion was reported as mild hyperkeratosis, slight spongiosis with intact basal layer...
2018: F1000Research
https://www.readbyqxmd.com/read/29770205/beginning-at-the-ends-telomeres-and-human-disease
#14
REVIEW
Sharon A Savage
Studies of rare and common illnesses have led to remarkable progress in the understanding of the role of telomeres (nucleoprotein complexes at chromosome ends essential for chromosomal integrity) in human disease. Telomere biology disorders encompass a growing spectrum of conditions caused by rare pathogenic germline variants in genes encoding essential aspects of telomere function. Dyskeratosis congenita, a disorder at the severe end of this spectrum, typically presents in childhood with the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia, accompanied by a very high risk of bone marrow failure, cancer, pulmonary fibrosis, and other medical problems...
2018: F1000Research
https://www.readbyqxmd.com/read/29766554/primary-cutaneous-aspergillosis-at-the-site-of-cyanoacrylate-skin-adhesive-in-a-neonate
#15
Ayan Kusari, Jessica Sprague, Lawrence F Eichenfield, Catalina Matiz, Victoria R Barrio
Primary cutaneous aspergillosis is a rare but potentially life-threatening disease. We present the case of a premature infant who developed primary cutaneous aspergillosis with Aspergillus niger at the site of a skin abrasion that had been treated with a purple-colored cyanoacrylate product. The infection was treated successfully with gentle debridement of the cyanoacrylate product, followed by intravenous voriconazole and topical fluconazole. To our knowledge, this is the first reported case of primary cutaneous aspergillosis occurring at the site of cyanoacrylate-based skin adhesive...
May 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29765945/atypical-fibroxanthoma-of-the-bulbar-conjunctiva-a-unique-case-describing-the-pathology-clinical-presentation-and-management
#16
Justin Kuiper, Ankit Shah, Rebecca Kuennen, Lynn Schoenfield
Background/Aims: Atypical fibroxanthoma is an uncommon tumor that usually occurs in the skin of the head and neck of the elderly with significant sun exposure. We describe a unique case featuring a rare ocular surface conjunctival tumor (atypical fibroxanthoma) and provide insight on its characteristic clinical features, surgical management, and histology. Methods: A 71-year-old male fisherman with no pertinent ocular history presented to an academic center with a rapidly enlarging bulbar conjunctival mass in the right perilimbal region for the past several months...
April 2018: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29765529/-myc-gene-amplification-is-a-rare-event-in-atypical-fibroxanthoma-and-pleomorphic-dermal-sarcoma
#17
Timo Gaiser, Daniela Hirsch, Azadeh Orouji, Marisa Bach, Peter Kind, Doris Helbig, Alexander Quaas, Jochen Utikal, Alexander Marx, Maria Rita Gaiser
Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are rare malignancies typically occurring in elderly patients and predominantly located in skin regions exposed to UV-light. Thus, a role of UV-radiation-induced damage for AFX and PDS tumorigenesis has been postulated. MYC gene amplification has been demonstrated as a distinctive feature of radiation-induced angiosarcoma. In order to investigate whether chronic exposure to UV-light might also lead to MYC copy number changes, 51 AFX and 24 PDS samples were retrospectively analyzed for MYC amplification by fluorescence in situ hybridization using a MYC and a CEP8 gene probe...
April 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29764943/microscopic-and-molecular-evidence-of-the-first-elasmobranch-adomavirus-the-cause-of-skin-disease-in-a-giant-guitarfish-rhynchobatus-djiddensis
#18
Jennifer A Dill, Alvin C Camus, John H Leary, Terry Fei Fan Ng
Only eight families of double-stranded DNA (dsDNA) viruses are known to infect vertebrate animals. During an investigation of papillomatous skin disease in an elasmobranch species, the giant guitarfish ( Rhynchobatus djiddensis ), a novel virus, distinct from all known viral families in regard to particle size, morphology, genome organization, and helicase phylogeny was discovered. Large inclusion bodies containing 75-nm icosahedral viral particles were present within epithelial cell nuclei in the proliferative skin lesions...
May 15, 2018: MBio
https://www.readbyqxmd.com/read/29762331/rare-location-for-pilonidal-sinus-the-nasal-dorsum
#19
Ayhan Kars, Fatma Atalay, Korhan Kilic, Fatih Bingöl, Yusuf Can
Pilonidal sinuses are recurrent chronic inflammatory lesions which may occur due to penetration of hair particles into skin. Herein, the authors report a pilonidal sinus case that is unusually seen on nasal dorsum and totally excised with the open technique rhinoplasty method. A 20-year-old male patient was admitted to the authors' outpatient clinic with complaints of dysmorphism and discharge from nasal dorsum. Physical examination revealed a swelling in nasal dorsum and hair-containing fistula. Excision was performed with an open rhinoplasty approach...
May 14, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29761072/sezary-syndrome-manifesting-as-posttransplant-lymphoproliferative-disorder
#20
Thanh-Phuong Afiat, Xiaohui Zhang, Hailing Zhang, Ernesto Ayala, Ling Zhang, Lubomir Sokol
Posttransplant lymphoproliferative disorders (PTLDs) of T-cell orgin are rare biologically heterogeneous diseases of mature lymphoid cells manifesting in immunosuppressed patients. Only a few cases of mycosis fungoides diagnosed post allogeneic hematopoietic cell transplant (alloHSCT) have been described so far. We present a patient with myelodysplastic syndrome (MDS) post matched unrelated donor alloHSCT who was on long-term immunosuppressive therapy due to graft versus host disease. Three years after an alloHSCT, she developed generalized erythroderma and peripheral blood lymphocytosis...
2018: Leukemia Research Reports
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