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https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#1
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28087208/-child-langerhans-cell-histiocytosis
#2
Jean Donadieu, Sébastien Héritier
DEFINITION: Langerhans cell histiocytosis (LCH) is defined by the association of a clinical and radiological involvement and a biopsy of a pathological tissue. Extension: it can affect any organ or system of the body but most commonly the bone (80% of cases), the skin (33%) and the pituitary (25%). Other organs are concerned such as liver, spleen, hematopoietic system and the lungs (15% each), lymph nodes (5-10%) and central nervous system (CNS) excluding the pituitary (2-4%). Natural history: the natural history of the disease is very heterogeneous, ranging from auto-regressive lesions to a disease affecting multiple organs with fatal consequences, while some lesions may be responsible for permanent sequels...
January 10, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28087116/application-of-whole-exome-sequencing-in-elucidating-the-phenotype-and-genotype-spectrum-of-junctional-epidermolysis-bullosa-a-preliminary-experience-of-a-tertiary-care-centre-in-india
#3
Vamsi K Yenamandra, Shamsudheen K Vellarikkal, Manoj Kumar, Madhumita R Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata B Ray, Amit K Dinda, Madhulika Kabra, Punit Kaur, Vinod K Sharma, Gomathy Sethuraman
BACKGROUND: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in several genodermatoses. OBJECTIVE: In view of the scarcity and need of molecular studies for JEB in India, we sought to explore the potential of WES in understanding the mutational spectrum of this rare, in certain subtypes lethal, sub-group of EB...
December 29, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28079852/ichthyosiform-sarcoidosis-report-of-three-cases-from-japan-and-literature-review
#4
Takako Miura, Yasunobu Kato, Toshiyuki Yamamoto
Cutaneous lesions of sarcoidosis present with various manifestations including specific and non-specific cutaneous lesions. Ichthyosiform sarcoidosis is a rare form of cutaneous sarcoidosis, presenting with asymptomatic, adherent, polygonal scales, mainly appearing on the lower limbs.  Ichthyosiform sarcoidosis has a predilection for dark-skinned races, and cases affecting Japanese patients have rarely been reported in English literature.  We herein describe three Japanese cases of ichthyosiform sarcoidosis on the lower limbs...
December 23, 2016: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
https://www.readbyqxmd.com/read/28079821/febuxostat-induced-agranulocytosis-in-an-end-stage-renal-disease-patient-a-case-report
#5
Xue Er Poh, Chien-Te Lee, Sung-Nan Pei
INTRODUCTION: Febuxostat, a nonpurine xanthine oxidase inhibitor, is approved as the first-line urate-lowering therapy in gout patients with normal renal function or mild to moderate renal impairment. The most common adverse effects of febuxostat are liver function test abnormalities, diarrhea, and skin rash. However, there is insufficient data in patients with severe renal impairment and end-stage renal disease (ESRD). We report the first case, to our knowledge, in which agranulocytosis developed after febuxostat treatment in an ESRD patient...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28078666/pediatric-erdheim-chester-disease-with-aggressive-skin-manifestations
#6
H-H Su, W Wu, Y Guo, H-D Chen, S-J Shan
Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, is uncommon and characterized by the accumulation of CD68+/CD1a- foamy histiocytes. It is extremely rare in children. The skin lesions of pediatric ECD was not systemically described before. We report a case of ECD in a 3.5 year old Chinese boy. The patient present with generalized skin and bone involvement for 3 years duration. Marked generalized annular maculopapular lesions with central atrophy which differed from previously reported adult xanthoma-like papules or periorbital xanthelasma-like lesions...
January 12, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28077740/the-jarisch-herxheimer-reaction-after-antibiotic-treatment-of-spirochetal-infections-a-review-of-recent-cases-and-our-understanding-of-pathogenesis
#7
REVIEW
Thomas Butler
Within 24 hours after antibiotic treatment of the spirochetal infections syphilis, Lyme disease, leptospirosis, and relapsing fever (RF), patients experience shaking chills, a rise in temperature, and intensification of skin rashes known as the Jarisch-Herxheimer reaction (JHR) with symptoms resolving a few hours later. Case reports indicate that the JHR can also include uterine contractions in pregnancy, worsening liver and renal function, acute respiratory distress syndrome, myocardial injury, hypotension, meningitis, alterations in consciousness, seizures, and strokes...
January 11, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28076996/a-serious-case-of-anthrax-associated-with-compartment-syndrome
#8
Seyran Kılınç, Mehmet Vakıf Keskinbıçkı, Murat Şengül, Semra Nergiz, Abdurrahman Örtücü, Okay Bulut
Compartment syndrome linked to skin anthrax is a rare complication that may develop and it should be noted that the disease may progress in spite of medical drug treatment. Our case was a farmer who was exposed after slaughtering a dead animal, a time delay for treatment hided this history and then developed compartment syndrome. In anthrax cases with delayed treatment and aggressive progression, circulation in the extremities should be carefully noted. We believe that the cases with compartment syndrome progressing in spite of medical drug treatment may be assessed for fasciotomy as a treatment approach...
January 11, 2017: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/28076468/phenotypic-diversity-and-selection-maintain-leishmania-amazonensis-infectivity-in-balb-c-mouse-model
#9
Benoît Espiau, Virginia Vilhena, Armelle Cuvillier, Aldina Barral, Gilles Merlin
Leishmania are protozoan parasites that show remarkable diversity, as revealed by the various clinical forms of leishmaniasis, which can range from mild skin lesions to severe metastatic cutaneous/mucosal lesions. The exact nature and extent of Leishmania phenotypic diversity in establishing infection is not fully understood. In order to try to understand some aspects of this diversity, we subcutaneously infected BALB/c mice with first and second generation subclones of a L. amazonensis strain isolated from a patient (BA125) and examined in vivo lesion growth rate and antimony susceptibility...
January 1, 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28076350/emergence-of-rare-species-of-nontuberculous-mycobacteria-as-potential-pathogens-in-saudi-arabian-clinical-setting
#10
Bright Varghese, Mushira Enani, Mohammed Shoukri, Sahar AlThawadi, Sameera AlJohani, Sahal Al-Hajoj
BACKGROUND: Clinical relevance of nontuberculous mycobacteria (NTM) is increasing worldwide including in Saudi Arabia. A high species diversity of NTM's has been noticed in a recent study. However, the identification in diagnostic laboratories is mostly limited to common species. The impact of NTM species diversity on clinical outcome is so far neglected in most of the clinical settings. METHODOLOGY/PRINCIPAL FINDINGS: During April 2014 to September 2015, a nationwide collection of suspected NTM clinical isolates with clinical and demographical data were carried out...
January 11, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28076343/pigmented-basal-cell-carcinoma-mimicking-a-superficial-spreading-melanoma
#11
Paula Hasbún Acuña, Roberto Cullen Aravena, César Maturana Donaire, Raúl Ares Mora, Ninoska Porras Kusmanic
Basal cell carcinoma is the most common form of skin cancer, especially in elderly people. Pigmented basal cell carcinoma is a rare subtype and has been described in the literature as a nodular and hyperpigmented lesion; rarely, it can appear as an extensive pigmented plate, which may be clinically indistinguishable from superficial spreading melanoma and Bowen disease. Dermatoscopy has a high sensitivity in the diagnosis of basal cell carcinoma. When Menzies criteria are used; however, the final diagnosis is made by histopathology...
December 20, 2016: Medwave
https://www.readbyqxmd.com/read/28075485/culturing-and-neuronal-differentiation-of-human-dental-pulp-stem-cells
#12
Sarita Goorha, Lawrence T Reiter
A major issue in studying human neurogenetic disorders, especially rare syndromes affecting the nervous system, is the ability to grow neuronal cultures that accurately represent these disorders for analysis. Although there has been some success in generating induced pluripotent stem (iPS) cells from both skin and blood, there are still limitations to the collection and production of iPS cells from these biospecimens. We have had significant success in collecting and growing human dental pulp stem (DPS) cells from exfoliated teeth sent to our laboratory by the parents of children with a variety of rare neurogenetic syndromes...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28075433/effects-of-morphine-butorphanol-and-levomethadone-in-different-doses-on-thermal-nociceptive-thresholds-in-horses
#13
Paula Dönselmann Im Sande, Klaus Hopster, Sabine Kästner
OBJECTIVE: Various opioids are available for use in equine medicine. Studies directly comparing their analgesic effects and side effects are rare. Therefore, the aim of this study was to compare the antinociceptive effect and the duration of analgesia of two different doses of morphine, butorphanol and levomethadone in horses. MATERIAL AND METHODS: Eight adult, healthy horses were used for this randomized, placebo-controlled, blinded cross-over trail. Each horse received placebo (P = 0...
January 11, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28075031/angiotropic-syringomatous-carcinoma
#14
Eri Katayama, Hiroshi Saruta, Aya Nanri, Takekuni Nakama, Chika Ohata
Syringomatous carcinoma (SC) is a slow-growing malignant skin tumor that usually affects the face or scalp. An 83-year-old female developed SC on the sole, a rare location. Histopathologically, numerous ducts with few keratinizing cysts were seen in the upper dermis, and cords, strands, and nests with sclerotic stroma were seen in the deep dermis and subcutis. In addition to the perineural and intraneural invasion of the tumor, the tumor cells had also invaded the vessel walls. There was no intravasation of tumor cells or interruption of the endothelium...
January 11, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28074213/-intrahepatic-cholestasis-of-pregnancy-rare-but-important
#15
REVIEW
A E Kremer, K Wolf, S Ständer
Intrahepatic cholestasis of pregnancy (ICP) is a liver-specific disorder occurring in approximately 0.5-2.0% of all pregnancies with a considerable variation in certain ethnic groups. ICP usually runs a benign course for the mother and is characterized by maternal pruritus mainly in the third trimester, elevated transaminases and fasting total serum bile salts and increased fetal adverse events. The etiology of ICP is only partially understood but seems to be multifactorial. Cholestasis-inducing effects of certain female sex hormones and their metabolites play an important role in genetically susceptible women...
January 10, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28073787/col6a5-variants-in-familial-neuropathic-chronic-itch
#16
Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra, Rayaz A Malik, Marco Ritelli, Nicoletta Zoppi, Chiara Dordoni, Melissa Sorosina, Paola Grammatico, Hassan Fadavi, Monique M Gerrits, Rowida Almomani, Catharina G Faber, Ingemar S J Merkies, Daniela Toniolo, Massimiliano Cocca, Claudio Doglioni, Stephen G Waxman, Sulayman D Dib-Hajj, Michela M Taiana, Jenny Sassone, Raffaella Lombardi, Daniele Cazzato, Andrea Zauli, Silvia Santoro, Margherita Marchi, Giuseppe Lauria
Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. We investigated three multigenerational families, one of which diagnosed with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), characterized by idiopathic chronic itch with predominantly proximal distribution...
January 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28073194/verruciform-xanthoma-of-the-penis-a-rare-benign-lesion-that-simulates-carcinoma
#17
Aldo Franco De Rose, Mattia Tosi, Guglielmo Mantica, Nataniele Piol, Carlo Toncini, Carlo Terrone
Verruciform xanthoma is a rare and benign condition predominantly affecting the oral cavity, but also skin and female anogenital mucosa. It can be flat, papular-warty or crateriform-cystic. Furthermore it can simulate HPV viral lesion such as condyloma and malignant neoplasia such as verrucous squamous cell carcinoma. An accurate diagnosis is important to avoid overtreatment, considering it is a benign lesion that does not require any radical treatment. We present an extremely rare case of a 64 year-old man with a small, slighty raised, gray reddish-dotted lesion on the left portion of the ventral side of his glans...
December 30, 2016: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/28072961/-a-case-report-of-childhood-farber-s-disease-and-literature-review
#18
X H Bao, J M Tian, T Y Ji, X Z Chang
Objective: To explore the clinical features, diagnosis, treatment and the prognosis of Farber disease by case report and literature review. Method: The clinical information of a case with farber's disease diagnosed in October 2015 at Peking University First Hospital was collected and analyzed, including clinical manifestation, electrophysiology, magnetic resonance imaging, pathology, treatments and prognosis.ASAH1 gene mutational analysis was conducted in the patient and her parents.By using "Farber's disease, ASAH1" as keywords, literature was searched from Pubmed, CHKD and HGMD database from January 1951 to January 2016...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28070633/-acne-and-rosacea-in-pregnancy
#19
REVIEW
S K Bechstein, F Ochsendorf
Acne and rosacea are common chronic inflammatory skin diseases. During pregnancy these skin disorders may become aggravated, in rare cases occurring for the first time. There are no data available for rosacea and little data for acne concerning the course of these skin disorders during pregnancy. Up to 42% of the pregnant women suffer from acne. In 90% of these women the disease existed before pregnancy. In 1/3, however, acne relapsed during pregnancy after a prior disease-free period. In 60% acne deteriorated during pregnancy...
January 9, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28070050/-clinical-comparative-analysis-for-pulmonary-histoplasmosis-and-progressive-disseminated-histoplasmosis
#20
Yan Zhang, Xiaoli Su, Yuanyuan Li, Ruoxi He, Chengping Hu, Pinhua Pan
To compare clinical features, diagnosis and therapeutic effect between pulmonary histoplasmosis and progressive disseminated histoplasmosis.
 Methods: A retrospective analysis for 12 cases of hospitalized patients with histoplasmosis, who was admitted in Xiangya Hospital, Central South University during the time from February 2009 to October 2015, was carried out. Four cases of pulmonary histoplasmosis and 8 cases of progressive disseminated histoplasmosis were included. The differences of clinical features, imaging tests, means for diagnosis and prognosis were analyzed between the two types of histoplasmosis...
December 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
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