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https://www.readbyqxmd.com/read/28319638/actinomycetoma-an-update-on-diagnosis-and-treatment
#1
Roberto Arenas, Ramón F Fernandez Martinez, Edoardo Torres-Guerrero, Carlos Garcia
Mycetoma is a chronic infection that develops after traumatic inoculation of the skin with either true fungi or aerobic actinomycetes. The resultant infections are known as eumycetoma or actinomycetoma, respectively. Although actinomycetoma is rare in developed countries, migration of patients from endemic areas makes knowledge of this condition crucial for dermatologists worldwide. We present a review of the current concepts in the epidemiology, clinical presentation, diagnosis, and treatment of actinomycetoma...
February 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28319280/nilotinib-induced-panniculitis-in-a-patient-with-chronic-myelogenous-leukemia
#2
Naomi Kitayama, Atsushi Otsuka, Chiaki Hamamoto, Yo Kaku, Hiroshi Shiragami, Yoshiyuki Okumura, Kaoru Tsujioka
Nilotinib is a second-generation tyrosine kinase inhibitors (TKIs) developed to target the bcr-abl protein for the treatment of chronic myelogenous leukemia (CML). [1] Nilotinib has been described as a well-tolerated drug. The most common non-hematologic side effects are skin rash, pruritus, headache, nausea, and fatigue. Cases of panniculitis induced by the other bcr-able TKIs such as imatinib, dasatinib and ponatinib were rarely described in the literature.[2-5] However, a case of panniculitis induced by nilotinib has not been reported...
March 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28317311/novel-pathogenic-variants-in-foxp3-in-fetuses-with-echogenic-bowel-and-skin-desquamation-identified-by-ultrasound
#3
Raymond J Louie, Queenie K-G Tan, Jennifer B Gilner, R Curtis Rogers, Noelle Younge, Stephanie B Wechsler, Marie T McDonald, Barbara Gordon, Christopher A Saski, Julie R Jones, Shelley J Chapman, Roger E Stevenson, John W Sleasman, Michael J Friez
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare, X-linked recessive disease that affects regulatory T cells (Tregs) resulting in diarrhea, enteropathy, eczema, and insulin-dependent diabetes mellitus. IPEX syndrome is caused by pathogenic alterations in FOXP3 located at Xp11.23. FOXP3 encodes a transcription factor that interacts with several partners, including NFAT and NF-κB, and is necessary for the proper cellular differentiation of Tregs. Although variable, the vast majority of IPEX syndrome patients have onset of disease during infancy with severe enteropathy...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28314701/genitourinary-involvement-and-management-in-children-with-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis
#4
J P Van Batavia, D I Chu, C J Long, M Jen, D A Canning, D A Weiss
BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are devastating hypersensitivity disorders that cause epidermal cell death and can affect all epidermal surfaces, including the urethra, vagina, labial and scrotal skin. Despite the well-described ocular and orofacial manifestations of SJS/TEN, there is a paucity of reports on the genitourinary (GU) symptoms and their management. Specifically, consulting services often ask the pediatric urology team if it is safe to place a urethral catheter, but there is no data in the literature to help guide management...
February 27, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#5
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28303655/cholangiohepatitis-in-dairy-cattle-13-cases
#6
D E Gomez, E Doré, D Francoz, A Desrochers, H Pierre, G Fecteau
BACKGROUND: The signalment, clinicopathologic, bacteriological, histopathological, ultrasonographic characteristics, and the treatment and outcomes of adult cattle with cholangiohepatitis are poorly defined. ANIMALS: Thirteen Holstein cows with cholangiohepatitis. METHODS: Retrospective study of medical records of cattle admitted to the CHUV and the AVC between 1992 and 2012 and 2000 and 2012, respectively, for cattle older than 3 months of age with a histopathological diagnosis of cholangiohepatitis...
March 16, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28303283/-bullous-sweet-s-syndrome-with-pulmonary-involvement
#7
A Sesti, K Rappersberger, C Posch
Acute febrile neutrophilic dermatosis (Sweet's syndrome) is a rare dermatosis characterized by painful papules and plaques accompanied by cutaneous infiltration with neutrophilic granulocytes. Bullous changes are observed in some cases. We report about a patient with osteomyelofibrosis who developed fever accompanied by painful plaques and confluent papules on both arms and thighs. The course of the disease was complicated by blistering and pulmonary infiltrates. After the diagnosis of bullous Sweet's syndrome was established, systemic therapy with glucocorticoids was successful in treating skin lesions and dyspnea...
March 16, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28302454/craniofacial-fibrous-dysplasia-a-10-case-series
#8
A Couturier, O Aumaître, L Gilain, B Jean, T Mom, M André
OBJECTIVES: Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. METHODS: We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015...
March 14, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28302385/primary-cutaneous-interdigitating-dendritic-cell-sarcoma-is-a-morphologic-and-phenotypic-simulator-of-poorly-differentiated-metastatic-melanoma-a-report-of-2-cases-and-review-of-the-literature
#9
REVIEW
Cynthia M Magro, Luke C Olson, Gerard Nuovo, Garron J Solomon
Interdigitating dendritic cell sarcoma (IDS) is a rare form of hematologic malignancy associated with an aggressive clinical course. Only 4 prior cases have been described as originating in the skin. We encountered two male patients ages 47 and 61years of age who presented with solitary cutaneous neoplasms diagnosed as IDS. Histologic exam showed a coalescing nested and multinodular proliferation of large pleomorphic epithelioid cells. In one case an initial diagnosis of melanoma was rendered. A recurrence 8months later was then interpreted as a primary cutaneous IDS...
February 20, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28302248/ocular-features-in-a-case-of-nevus-of-ota
#10
Murtaza Sameen Junejo, Muhammad Saim Khan, Ahsan Mukhtar
Oculodermal melanocytosis, also known as Nevus of Ota, is a hamartomatous melanocytic nevus of dermal melanocytes. It presents as a bluish grey patch on the face, which may be congenital or acquired involving the area of distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The nevus can be unilateral or bilateral, and, in addition to skin, it may involve ocular and oral mucosal surfaces. It is a rare disorder and the ocular complications, such as glaucoma and melanoma, may be vision or life-threatening...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28302239/hyperoxaluria-after-renal-transplantation
#11
Waqar Ahmed, Abad Ur Rehman, Sumit Acharya
Primary hyperoxaluria is a rare autosomal recessive disorder, characterised by precipitation of insoluble oxalate crystals in the joints, kidneys, heart, eyes, skin, nerves, and bone marrow. The patients of primary oxaluria usually present with renal stone/nephrocalcinosis, and isolated kidney transplantation should not be done in these patients. We present a case report of 31-year lady with acute graft dysfunction due to oxaluria with no history of nephrolithiasis/nephrocalcinosis prior to renal transplantation...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28302234/tuberculous-dactylitis-with-concomitant-thyroid-involvement-a-rare-presentation-of-childhood-tuberculosis
#12
Sobia Qamar, Farrah Naz, Samia Naz, Iftikhar Ejaz
Extrapulmonary tuberculosis rarely presents as thyroid involvement along with other manifestations, and poses a diagnostic challenge on account of paucibacillary nature of disease. In general, the diagnosis of tuberculosis is based on epidemiological risk factors, clinical features, imaging studies, in addition to a positive skin testing or Interferon Gamma Release Assay (IGRA). A 14-year boy presented with history of fever and weight loss for one year. On examination, he had painful swelling of fingers and toes along with a painless thyroid nodule and squint...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28302211/-sodium-taurocholate-cotransporting-polypeptide-deficiency-manifesting-as-cholestatic-jaundice-in-early-infancy-a-complicated-case-study
#13
Yuan-Zong Song, Mei Deng
Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is caused by SLC10A1 mutations impairing the NTCP function to uptake plasma bile salts into the hepatocyte. Thus far, patients with NTCP deficiency were rarely reported. The patient in this paper was a 5-month-19-day male infant with the complaint of jaundiced skin and sclera for 5.5 months as well as abnormal liver function revealed over 4 months. His jaundice was noticed on the second day after birth, and remained visible till his age of 1 month and 13 days, when a liver function test unveiled markedly elevated total, direct and indirect bilirubin as well as total bile acids (TBA)...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28302098/in-vivo-confocal-microscopy-of-pre-descemet-corneal-dystrophy-associated-with-x-linked-ichthyosis-a-case-report
#14
Hui Shi, Xiao-Feng Qi, Tao-Tao Liu, Qian Hao, Xiao-Hong Li, Ling-Ling Liang, Yi-Miao Wang, Zhi-Hua Cui
BACKGROUND: Pre-Descemet corneal dystrophy (PDCD) is characterized by the presence of numerous, tiny, polymorphic opacities immediately anterior to Descemet membrane, which is a rare form of corneal stromal dystrophy and hard to be diagnosed. In vivo confocal microscopy (IVCM) is a useful tool to examine the minimal lesions of the cornea at the cellular level. In this article, we report a rare case of PDCD associated with X-linked ichthyosis and evaluate IVCM findings. CASE PRESENTATION: We present a 34-year-old male Chinese patient with PDCD associated with X-linked ichthyosis...
March 16, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28301614/a-phase-2-multicenter-double-blind-randomized-vehicle-controlled-clinical-study-to-assess-the-safety-and-efficacy-of-a-halobetasol-tazarotene-fixed-combination-in-the-treatment-of-plaque-psoriasis
#15
Jeffrey L Sugarman, Linda Stein Gold, Mark G Lebwohl, David M Pariser, Binu J Alexander, Radhakrishnan Pillai
<p>BACKGROUND: Psoriasis is a chronic, immune-mediated disease that varies widely in its clinical expression. Treatment options focus on relieving symptoms, reducing inflammation, induration, and scaling, and controlling the extent of the disease. Topical corticosteroids are the mainstay of treatment, however long-term safety remains a concern, particularly with the more potent formulations. Combination therapy with a corticosteroid and tazarotene may improve psoriasis signs at a lower corticosteroid concentration providing a superior safety profile...
March 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28301045/beneficial-effect-of-ustekinumab-in-familial-pityriasis-rubra-pilaris-with-a-new-missense-mutation-in-card14
#16
S M Lwin, C-K Hsu, L Liu, H-Y Huang, N J Levell, J A McGrath
Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which ~1 in 20 affected individuals show autosomal dominant inheritance. In such cases, there may be gain-of-function mutations in CARD14, encoding caspase recruitment domain-containing protein 14 (CARD14) that activates the non-canonical nuclear factor-kappa B (NF-κB) pathway, thereby promoting cutaneous inflammation. Here, we report a mother and son with PRP due to a new missense mutation in CARD14 and describe the beneficial clinical effects of ustekinumab, a monoclonal antibody against interleukins-12 and -23, in both subjects...
March 16, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28300930/gianotti-crosti-syndrome-a-case-report-of-a-teenager
#17
Renata Leite Pedreira, Juliana Martins Leal, Keline Jácome Silvestre, Alice Paixão Lisboa, Alexandre Carlos Gripp
Gianotti-Crosti syndrome is a rare disease characterized by acral papular eruption with symmetrical distribution. It is a benign and self-limited disease; the symptoms disappear after two to eight weeks, without recurrences or scars. Skin lesions are usually asymptomatic. Prodrome might occur, suggesting upper respiratory infection, or constitutional symptoms. Diagnosis is eminently clinical, and this disease is associated with viral infections. Due to its rarity and low occurrence in adolescents and adults, we report a case of Gianotti-Crosti syndrome of a teenager...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28300929/oculoectodermal-syndrome-twentieth-described-case-with-new-manifestations
#18
Daniela de Almeida Figueiras, Deborah Maria de Castro Barbosa Leal, Valter Kozmhinsky, Marina Coutinho Domingues Querino, Marina Genesia da Silva Regueira, Maria Gabriela de Morais Studart
Oculoectodermal syndrome is a rare disease characterized by the association of aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This report describes the twentieth case of the disease. We report a 4-year-old female child who presented with the classical features of the syndrome: aplasia cutis congenita and epibulbar dermoids. Our case expands the clinical spectrum of the disease to include: diffuse hyperpigmentation (some following the Blaschko´s lines); hypopigmented skin areas on the trunk; arachnoid cyst on the right fronto-parietal border; rounded left side of the hippocampus; and dermoid cyst underlying the bulb-medullary transition...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28300921/porokeratosis-ptychotropica
#19
Ana Carolina Franco Tebet, Tatiana Gandolfi de Oliveira, Anna Rita Ferrante Mitidieri de Oliveira, Fabiolla Sih Moriya, Jayme de Oliveira, Luiz Carlos Cucé
Porokeratosis is a skin disorder clinically characterized by annular plaques with keratotic borders resembling the Great Wall of China and histopathologically by cornoid lamellae. The disease has several clinical variants. Porokeratosis ptychotropica, which has recently become part of these variants, is quite rare and little known. The entity is characterized by verrucous plaques - which may resemble a psoriasis plaque - that affect the regions of the buttocks, most commonly the gluteal cleft, with or without extremity involvement...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28300914/nevus-lipomatosus-cutaneous-superficialis
#20
Gustavo de Sá Menezes Carvalho, Silvana Maria de Morais Cavalcanti, Alzinira Souza Herênio, Márcia Almeida Galvão Teixeira, Eliane Ruth Barbosa de Alencar, Sergio Paulo Mendes Gonçalves
We report a case of nevus lipomatosus cutaneous superficialis of Hoffman-Zurhelle (NCLS), with multiple lesions, in a ten-year-old child. The NLCS is considered rare. The classical clinical presentation is characterized by multiple skin-colored or yellowish papules and nodules, which can have a linear distribution. Histologically, it is characterized by the presence of mature ectopic adipocytes in the dermis. The main therapeutic option is surgical excision. The classical Nevus lipomatosus cutaneous superficialis is reported in this case...
September 2016: Anais Brasileiros de Dermatologia
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