keyword
MENU ▼
Read by QxMD icon Read
search

Rare skin

keyword
https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#1
Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27913968/post-ganglionic-autonomic-neuropathy-associated-with-anti-glutamic-acid-decarboxylase-antibodies
#2
E Fileccia, R Rinaldi, R Liguori, A Incensi, R D'Angelo, M P Giannoccaro, V Donadio
PURPOSE: Antibodies to glutamic acid decarboxylase (GAD-Abs) have been associated with several conditions, rarely involving the autonomic nervous system. Here, we describe two patients complaining of autonomic symptoms in whom a post-ganglionic autonomic neuropathy has been demonstrated in association with significantly elevated serum and CSF GAD-Abs levels. METHODS: Patients underwent nerve conduction studies, sympathetic skin response testing, evaluation of autonomic control of the cardiovascular system and skin biopsy...
December 2, 2016: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/27913457/treatment-of-blastic-plasmacytoid-dendritic-cell-neoplasm
#3
Jill M Sullivan, David A Rizzieri
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare myeloid malignancy with no defined standard of care. BPDCN presents most commonly with skin lesions with or without extramedullary organ involvement before leukemic dissemination. As a result of its clinical ambiguity, differentiating BPDCN from benign skin lesions or those of acute myeloid leukemia with leukemia cutis is challenging. BPDCN is most easily defined by the phenotype CD4(+)CD56(+)CD123(+)lineage(-)MPO(-), although many patients will present with variable expression of CD4, CD56, or alternate plasmacytoid markers, which compounds the difficulty in differentiating BPDCN from other myeloid or lymphoid malignancies...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27912972/fate-of-males-with-urethral-y-duplication-40-year-long-follow-up-in-8-patients
#4
Mario Lima, Francesca Destro, Neil Di Salvo, Tommaso Gargano, Giovanni Ruggeri
PURPOSE: The spectrum of male urethral duplication is heterogeneous and it includes the Y-duplication. The malformation is rare and there is only a few case series reported in the literature. The management of Y-forms remains challenging for the surgeon and the long-term follow-up is still scarcely investigated. We report our 40-year experience in the management of patients with Y-duplication. MATERIALS AND METHODS: We conducted a restrospective analysis collecting information of patients with urethral Y-duplication treated at our department from April 1975 to April 2015...
November 17, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27911450/uveal-melanoma-relatively-rare-but-deadly-cancer
#5
REVIEW
S Kaliki, C L Shields
Although it is a relatively rare disease, primarily found in the Caucasian population, uveal melanoma is the most common primary intraocular tumor in adults with a mean age-adjusted incidence of 5.1 cases per million per year. Tumors are located either in iris (4%), ciliary body (6%), or choroid (90%). The host susceptibility factors for uveal melanoma include fair skin, light eye color, inability to tan, ocular or oculodermal melanocytosis, cutaneous or iris or choroidal nevus, and BRCA1-associated protein 1 mutation...
December 2, 2016: Eye
https://www.readbyqxmd.com/read/27910123/congenital-infantile-fibrosarcoma-mimicking-a-cutaneous-vascular-lesion-a-case-report-and-review-of-the-literature
#6
Tyler Enos, Gregory A Hosler, Naseem Uddin, Adnan Mir
Congenital infantile fibrosarcoma (CIFS) is a rare neoplasm of infancy that occurs most frequently in the extremities, and when presenting in the skin, may sometimes resemble infantile hemangiomas or other vascular lesions. Clinically, these tumors differ from hemangiomas in the time of onset, morphology, and growth pattern and must be evaluated histologically for definitive diagnosis. We describe an infant with a neoplasm involving the distal left forearm initially presumed to be a vascular lesion after evaluation by two separate ultrasound studies...
November 7, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27909682/case-report-of-invasive-disseminated-candidiasis-with-peripheral-nodular-cavitary-lesions-in-the-lung
#7
Hafiza Arshad, Silvia Garcia, Misbahuddin Khaja
We report a case of invasive candidiasis presenting as multiple lung nodules and cavitary lesions with minimal pleural effusion. Candida infections of the lung are rare but can occur after hematologic dissemination of the yeast from other body sites, such as the skin and the gastrointestinal and genitourinary tracts. Here, we describe the case of a 56-year-old female with a history of end-stage renal disease (ESRD) who presented with fever, productive cough, and pulmonary nodules and cavitary lesions seen on a chest computed tomography (CT)...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/27909609/emergency-difficult-airway-management-in-a-patient-with-severe-epidermolysis-bullosa
#8
Ahmet Selim Özkan, Gülay Erdoğan Kayhan, Sedat Akbaş, Osman Kaçmaz, Mahmut Durmuş
Epidermolysis bullosa (EB) is a rare disease characterised by vesiculobullous lesions with minimal trauma to the skin and mucous membranes. Bleeding, scar tissue, contractures, oedema and lesions that can spread throughout the body can cause a difficult airway and vascular access in patients with EB. Therefore, anaesthetic management in patients with EB is a major problem even for experienced anaesthesiologists. Herein, we report a case of difficult airway management in a patient diagnosed with severe EB who presented for emergency tracheostomy because of respiratory failure under general anaesthesia...
October 2016: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/27906694/follicular-malignant-melanoma-a-rare-morphologic-variant-of-melanoma-report-of-a-case-and-review-of-the-literature
#9
Iona Chapman, Sharon Horton, Wenhua Liu
Follicular malignant melanoma (FMM) is an exceedingly rare variant of melanoma. Only 8 cases have been reported in the literature thus far. Often bland on physical examination, FMM shows a striking histologic pattern, with atypical melanocytes sometimes consuming the entire follicle and extending into the dermis. Criteria have been suggested to help distinguish FMM from lentigo maligna melanoma; however, no clear criteria distinguish this cancer clinically. FMM cannot be distinguished from follicular metastases of melanoma based on histology, requiring close clinical correlation and detailed history taking on the part of the practitioner...
November 29, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27906097/a-10-year-old-child-presenting-with-syndromic-paucity-of-bile-ducts-alagille-syndrome-a-case-report
#10
Girish Kumar Pati, Ayaskanta Singh, Preetam Nath, Jimmy Narayan, Pradeep Kumar Padhi, Prasanta Kumar Parida, Kaumudee Pattnaik, Chittaranjan Panda, Shivaram Prasad Singh
BACKGROUND: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case...
November 30, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27905346/bevacizumab-in-choroidal-neovascularization-secondary-to-indian-tick-typhus-a-rare-case-report
#11
Raghavendra Ijeri, Gautam Beladiya, Sharad Bhomaj
Tick typhus causes hemorrhagic lesions over the skin. Retina also shows hemorrhages and exudates. Many cases have been reported in western literature about this condition. To our best of knowledge, this is the first case report of tick typhus in India which was also associated with inflammatory choroidal neovascularization.
October 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27905128/ehlers-danlos-syndrome-related-to-fkbp14-mutations-detailed-cutaneous-phenotype
#12
A C Bursztejn, M Baumann, D Lipsker
In 2012, a new Ehlers-Danlos (ED) variant, characterized by severe progressive kyphoscoliosis, neonatal myopathy and hearing loss, with normal urinary lysylpyridinoline to hydroxylysylpyridinoline ratio and most often a recurrent homozygous mutation in the FKBP14 gene, was reported. Because one of the major affected tissues in ED syndrome is the skin, recognition of the cutaneous features of this newly recognized EDS variant is important. We describe the cutaneous phenotype of an adolescent girl harbouring the recurrent homozygous FKBP14 mutation...
November 30, 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27905021/netherton-syndrome-a-genotype-phenotype-review
#13
REVIEW
Constantina A Sarri, Angeliki Roussaki-Schulze, Yiannis Vasilopoulos, Efterpi Zafiriou, Aikaterini Patsatsi, Costas Stamatis, Polyxeni Gidarokosta, Dimitrios Sotiriadis, Theologia Sarafidou, Zissis Mamuris
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families...
November 30, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27904857/t-cadherin-expression-in-the-epidermis-and-adnexal-structures-of-normal-skin
#14
Stanislaw Buechner, Paul Erne, Therese J Resink
BACKGROUND: T-cadherin is an atypical glycosylphosphatidylinositol-anchored member of the cadherin superfamily of adhesion molecules. The role of T-cadherin in biology of the skin is poorly understood. Expression of T-cadherin in basal keratinocytes and dermal blood vessels of the healthy epidermis has been demonstrated, but studies on expression in skin appendages are rare. METHODS: We conducted an immunohistochemical analysis of T-cadherin expression in the epidermis and adnexal structures of normal skin...
September 2016: Dermatopathology (Basel, Switzerland)
https://www.readbyqxmd.com/read/27904816/an-unusual-presentation-of-nocardiosis-in-an-allogeneic-transplant-recipient
#15
Uroosa Ibrahim, Amina Saqib, Farhan Mohammad, Terenig Terjanian
Nocardiosis is a rare cause of opportunistic infection post hematopoietic stem cell transplant (HSCT) occurring in about 0.3% of patients. The risk factors include delayed immune reconstitution, prolonged neutropenia, and graft-versus-host disease. The most common site of infection is the lung, followed by the brain and the skin. Concomitant pulmonary and central nervous system (CNS) nocardiosis is an extremely rare entity as presented in our case. We present the case of a 72-year-old male at 137 days post transplant presenting with complaints of headache and slurred speech...
October 17, 2016: Curēus
https://www.readbyqxmd.com/read/27904278/tick-bite-by-nymphal-amblyomma-testudinarium
#16
Yeong Ho Kim, Ji Hyun Lee, Young Min Park, Jun Young Lee
Ticks are parasites that usually suck the blood of wild or domestic animals; rarely, they ingest human blood and spread various febrile infectious diseases along with skin problems. Out of 40 cases of tick bite reported in Korea, only 3 were caused by nymphal ticks, and tick bites by nymphal Amblyomma testudinarium have not been reported previously. Herein, we report a rare case of tick bite by nymphal A. testudinarium. A 57-year-old woman presented with an asymptomatic solitary erythematous nodule on the left thigh that had been present for 6 days...
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27904275/hidden-pictures-of-kaposi-s-sarcoma-in-psoriatic-lesions-a-diagnostic-challenge
#17
Jisook Yoo, Mingyul Jo, Min-Soo Kim, Kwang-Hyun Choi, Hyang-Joon Park, Mihn-Sook Jue
Kaposi's sarcoma is a multifocal proliferative vascular tumor involving the skin and other organ and psoriasis is a chronic cutaneous disease with papules and plaques with white scale. Development of Kaposi's sarcoma in psoriasis patients has been reported rarely. A 71-year-old man presented with multiple brownish to violaceous plaques on both feet and arms which were found 4 months ago. The biopsy confirmed Kaposi's sarcoma. The patient was diagnosed with psoriasis vulgaris 10 years ago and Kaposi's sarcoma lesions developed between psoriatic plaques...
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27904217/percutaneous-vertebroplasty-guided-by-preoperative-computed-tomography-measurements
#18
Zhongbao Tan, Zhenhai Di, Xuequn Mao, Jian Zhang, Rong Zou, Qingqing Wang
BACKGROUND: Percutaneous vertebroplasty (PVP) is now widely performed to treat painful vertebral compression fractures. Previous researches have reported numerous advantages. However, it rarely reported that how to determine the feasibility of the unilateral or bilateral approach and how to decide the puncture angle, the skin insertion site before the procedure. The aim of this study was to discuss the feasibility of PVP using unilateral pedicular approach by the three-dimensional positioning of computed tomography (CT) image...
November 2016: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/27904207/primary-cutaneous-synovial-sarcoma-an-extremely-rare-report-of-superficial-synovial-sarcoma
#19
Nastaran Namazi, Morteza Ghassemipour, Azadeh Rakhshan, Ata Abbasi
Synovial sarcoma is a type of malignancy which usually occurs near the joints of the arm, neck, or leg. It is a sarcoma of soft tissue and accounts for 5-10% of all adult soft tissue sarcomas in the world. We present a case with primary superficial cutaneous synovial sarcoma without involvement of the underlying knee joint. It is a very rare condition, and to the best of our knowledge, it is the second report of this topic. Although it is rare among soft tissue tumors, the dermatologists should have precise attention to this skin tumor, as early diagnosis is associated with lower metastatic rate and therefore better prognosis...
November 2016: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/27904188/cutaneous-manifestations-of-multiple-myeloma
#20
Binodini Behera, Monali Pattnaik, Bharti Sahu, Prasenjeet Mohanty, Swapna Jena, Liza Mohapatra
Multiple myeloma (MM) is a proliferative disorder of plasma cells which produce abnormal immunoglobulin proteins. Skin involvement is rarely found in this disorder. They are either specific or nonspecific lesions. We report four such interesting patients who presented to us initially with common dermatoses such as leukocytoclastic vasculitis, pyoderma gangrenosum, and vesiculobullous disorders and were subsequently diagnosed to have MM. There were no skeletal involvements or renal function abnormality at the time of presentation...
November 2016: Indian Journal of Dermatology
keyword
keyword
112179
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"