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https://www.readbyqxmd.com/read/28449284/pediatric-melanoma
#1
REVIEW
Christina Stefanaki, Leonidas Chardalias, Efthymia Soura, Alexandra Katsarou, Alexander Stratigos
Pediatric melanoma, although rare, is the most common skin cancer in children. Our current knowledge on pediatric melanoma incidence trends is expanding, as several studies have addressed this issue with conflicting results. Known risk factors for pediatric melanoma include family history of melanoma, a previous history of malignancy, large congenital nevi, numerous melanocytic nevi, sunburns, increased UV exposure and a sun-sensitive phenotype. In younger children melanoma more often presents with atypical features, such as a changing, amelanotic or uniformly colored, often bleeding lesion, not fulfilling in most cases the conventional ABCDE criteria...
April 27, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28449065/a-homozygous-missense-mutation-in-eral1-encoding-a-mitochondrial-rrna-chaperone-causes-perrault-syndrome
#2
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded mutations in the known PS genes, but identified a single homozygous mutation in the ERAL1 gene (c.707A>T; p...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448262/an-unusually-large-carbuncle-of-the-temporofacial-region-demonstrating-remarkable-post-debridement-wound-healing-process-a-case-report
#3
Humaid Ahmad, Sheeraz Shakoor Siddiqui
Skin carbuncles are debilitating skin infections commonly seen in elderly patients with diabetes. These infections develop when a cluster of adjacent furuncles coalesce to form one inflammatory mass. While they commonly occur on the nape of the neck and back, rarer sites involving the face and head have been noted. Management of these rare sites is urgent because of the potential intracranial complications and the surgical outcome is often unsatisfactory due to associated facial scarring. Intraoral drainage is advocated to avoid this; however, when the carbuncle involves a larger area, debridement from the exterior is necessary...
April 2017: Wounds: a Compendium of Clinical Research and Practice
https://www.readbyqxmd.com/read/28447661/the-nonsystemic-vasculitic-neuropathies
#4
REVIEW
Michael P Collins, Robert D Hadden
Nonsystemic vasculitic neuropathy (NSVN) is an under-recognized single-organ vasculitis of peripheral nerves that can only be diagnosed with a nerve biopsy. A Peripheral Nerve Society guideline group published consensus recommendations on the classification, diagnosis and treatment of NSVN in 2010, and new diagnostic criteria for vasculitic neuropathy were developed by the Brighton Collaboration in 2015. In this Review, we provide an update on the classification, diagnosis and treatment of NSVN. NSVN subtypes include Wartenberg migratory sensory neuropathy and postsurgical inflammatory neuropathy...
April 27, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28447350/dermoscopy-pathology-relationship-in-seborrheic-keratosis
#5
REVIEW
Akane Minagawa
Making a definitive diagnosis of seborrheic keratosis (SK) can be challenging for the naked eye due to its wide variation in clinical features. Fortunately, however, most cases of SK exhibit the typical dermoscopic findings of fissures and ridges, hairpin vessels with white halo, comedo-like openings, and milia-like cysts, all of which are helpful to distinguish SK from melanoma, melanocytic nevus, squamous cell carcinoma, basal cell carcinoma (BCC) and other skin tumors. Histopathologically, these dermoscopic characteristics correspond to papillomatous surface of the epidermis, enlarged capillaries of the dermal papillae, pseudohorn cysts in the epidermis opened to the surface of the lesion and intraepidermal cysts, respectively...
May 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28447112/-imaging-diagnostics-of-breast-metastases-from-extramammary-tumors
#6
REVIEW
S Wienbeck, S Nemat, J Lotz, A Surov
Breast metastases of solid extramammary tumors are very rare in comparison to primary malignancies of the breast and account for only 0.33-6.3% of all malignant neoplasms of the breast. The most common primary tumors are malignant melanoma, distant sarcomas, lung cancer, ovarian cancer, renal cell cancer and thyroid cancer in decreasing order of frequency. This review article summarizes the clinical features and the different imaging findings of breast metastases from different extramammary solid tumors. Breast metastases are often incidental findings in computed tomography (CT) or positron emission tomography CT (PET-CT) imaging...
April 26, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28446858/a-case-of-autoimmune-polyglandular-syndrome-ype-2-associated-with-atypical-form-of-scleromyxedema
#7
Oleksander Prylutskyi, Olga Prylutska, Anatoliy Degonskyi, Kseniia Tkachenko
BACKGROUND: Autoimmune polyglandular syndrome type 2 represents an uncommon endocrine disorder composed by Addison's disease with autoimmune thyroid disease (Schmidt's syndrome) and/or type 1 diabetes mellitus. Scleromyxedema is a rare progressive cutaneous mucinosis usually associated with systemic involvement and paraproteinemia. To the best of our knowledge, there is no case report of Schmidt's syndrome associated with scleromyxedema. CASE DETAILS: A 34-year-old woman was admitted to Donetsk Clinical Territorial Medical Association due to acute general weakness, reduced vision, dryness of integuments, memory decline, fatigue, weight loss, rash on the face trunk and extremities...
September 2016: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/28446137/progressive-cutaneous-cryptococcosis-complicated-with-meningitis-in-a-myasthenia-gravis-patient-on-long-term-immunosuppressive-therapy-a-case-report
#8
Nguyen Thi Cam Huong, Ahmed M A Altibi, Nguyen My Hoa, Le Anh Tuan, Samar Salman, Sara Morsy, Nguyen Thi Bich Lien, Nguyen Thanh Truong, Nguyen Thi Hoang Mai, Pham Thi Le Hoa, Nguyen Ba Thang, Van The Trung
BACKGROUND: Cryptococcosis is an opportunistic infection caused by the encapsulated yeast Cryptococcus neoformans and most remarkably manifests in HIV-infected individuals, especially in the settings of very low CD4 count. Development of cryptococcosis in HIV-uninfected individuals is exceedingly rare and usually signifies a marked immunodeficiency. Cryptococcosis in association with myasthenia gravis or thymoma has been previously documented in only very few cases in the literature. CASE PRESENTATION: We reported a complicated case of severe cutaneous cryptococcosis in a 39-year-old Vietnamese male patient with myasthenia gravis on long-term immunosuppressive therapy...
April 26, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28445563/outbreak-of-occupational-dermatitis-associated-with-pyemotes-ventricosus
#9
Martyna Tomczyk-Socha, Katarzyna Jedrzejewska-Jurga, Joanna Limburska, Jaroslaw Tomczyk
Importance: Although Pyemotes spp have been known to cause dermatitis, recent reports are rare. During the past 30 years, only 3 outbreaks of dermatitis caused by Pyemotes ventricosus have been reported. Objective: To analyze the causative agent of skin changes in employees of a company that produced herbal medicines. Design, Setting, and Participants: This case series includes 18 patients (8 men, 10 women; mean age, 44 years) who contracted unusual dermatitis after an occupational exposure in July and August of 2012 while working for a company that produced herbal medicines...
April 26, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28445491/how-people-used-ochre-at-rose-cottage-cave-south-africa-sixty-thousand-years-of-evidence-from-the-middle-stone-age
#10
Tammy Hodgskiss, Lyn Wadley
We describe colour, hardness, grain size, geological type and surface modifications of ochre pieces excavated, first by Malan and later by Harper, from the Middle Stone Age (MSA) of Rose Cottage Cave, 96, 000 to 30, 000 years ago. Soft, bright-red shales are abundant, and most ochre has clayey or silty grain sizes. The post-Howiesons Poort layers contain the most ochre pieces, but the Howiesons Poort layers have the highest frequency of ochre per sediment volume. The pre-Howiesons Poort layers have the highest utilization rate...
2017: PloS One
https://www.readbyqxmd.com/read/28442881/cutaneous-hybrid-tumor-composed-of-epidermal-cyst-and-cystic-pilomatricoma-unusual-presentation-in-a-child
#11
Konstantinos Lamprou, Christos Plataras, Maria Chorti, Efstratios Christianakis
We report a rare case of cutaneous hybrid tumor composed of epidermal cyst and cystic pilomatricoma that presented in an unusual way in a child. A 14-year-old teen girl presented with a skin lesion on the inner side of the left arm, approximately at the level of the elbow. The lesion was initially observed 5 months before and was continuously increasing in size during that time resembling other benign or malignant cutaneous tumors.
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28442877/aplasia-cutis-congenita-trichoscopy-findings
#12
Ana Maria Costa Pinheiro, Eduardo Botelho Silva Mauad, Luís Fernando Amarante Fernandes, Raffaela Bruno Drumond
Aplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin that most commonly affects the scalp. We present a case of ACC in a 45-day-old girl and the dermoscopic findings. Dermoscopy has shown to be an easy, fast and useful method for the diagnosis of this condition.
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28442875/extreme-phenotype-of-epidermal-growth-factor-receptor-inhibitor-induced-destructive-folliculitis
#13
Florian Anzengruber, Barbara Meier, Julia-Tatjana Maul, Katrin Kerl, Lars E French, Alexander A Navarini
Due to the increasingly widespread use and side effect profile of epidermal growth factor receptor inhibitors (EGFRIs), cutaneous side effects of these drugs are frequently encountered. The EGFR is expressed on keratinocytes and fibroblasts. Inhibition of EGFR can produce a range of cutaneous adverse effects, the most frequent being a characteristic acneiform skin eruption. As the latter is associated with good anti-neoplastic responses, the onset of EGFRI-induced acneiform skin eruption is typically viewed as a positive sign by patients and physicians...
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28442871/epithelioma-adenoides-cysticum-a-report-of-two-cases-in-a-family
#14
Najeeba Riyaz, Bindurani Sudhamani, Arakkal Riyaz
Epithelioma adenoides cysticum or multiple trichoepitheliomas are rare benign hamartomas arising from the hair germ. A 35-year-old female presented with multiple skin-colored firm papules and nodules mainly affecting the central face, scalp, and external ear canal since the age of 9 years. The lesions gradually increased with age. Her 13-year-old son also had similar but smaller lesions on the central face. Histopathology was consistent with trichoepithelioma.
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28442810/fiessinger-leroy-s-disease-a-rare-case-report
#15
Yash Hemendra Dhamecha, Rikeeta Deshmukh, Bharti Patel, Neela Bhuptani
Fiessinger-Leroy's disease (Reiter's disease) is rare and not commonly reported in India. This paper reports a case of a 35-year-old male with Fiessinger-Leroy's disease, occurring after balanitis. The patient presented with symmetrical polyarthritis, pruritic scaly plaques, keratoderma blenorrhagicum, and hematuria with histopathology of skin suggestive of Fiessinger-Leroy's disease. The case is presented with a view to document the occurrence of the same in India.
January 2017: Indian Journal of Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28442809/co-infection-of-syphilis-and-hepatitis-b-with-carcinoma-penis-in-a-human-immunodeficiency-virus-male
#16
Balaji Govindan, Kalaivani Subramanian, Maduravasagam Karunakaran
Human immunodeficiency virus (HIV) infections have a high probability of co-infections with Syphilis and hepatitis B virus since they share the common routes of transmission. We report a 41-year-old HIV male (on antiretroviral therapy for the past 6 years) admitted for a complaint of penile ulcer for 2 months. Serology for syphilis and hepatitis B were positive. Skin biopsy of the penile ulcer confirmed squamous cell carcinoma. Henceforth, the patient was referred to oncology department for further management...
January 2017: Indian Journal of Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28442808/extramammary-paget-s-disease-of-vulva-a-rare-entity
#17
Sandhya Yadav, Pratik Gahalaut, Hardev Singh Soodan, Nitin Mishra, Madhur Kant Rastogi
Extramammary Paget's disease is a rare cutaneous, intraepithelial adenocarcinoma involving primarily the epidermis but occasionally extending into the underlying dermis. The condition typically presents as a red, velvety, pruritic skin rash of the vulva region which closely mimics a multitude of other, more common conditions. As a result, vulvar Paget's disease is frequently misdiagnosed, leading to an often lengthy lag time (an average of about 2-3 years) between the onset of symptoms and diagnosis.
January 2017: Indian Journal of Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#18
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28439661/comparative-study-of-p16-protein-expression-in-squamous-cell-carcinomas-from-patients-with-epidermodysplasia-verruciformis-and-patients-without-the-disease
#19
Mayra S G Mattos, Walmar R Oliveira, Mirian N Sotto
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with susceptibility to beta-human papilloma virus (HPV) infection. EV patients develop disseminated warts and non-melanoma skin cancer, mainly squamous cell carcinomas (SCC) that are locally aggressive. EV pathogenesis is not yet fully understood, but alterations in the p16 gene play a role in the pathogenesis of neoplasms caused by high-risk genital HPV. To explore its role in EV lesions, we compared p16 expression in SCC from patients with and without EV...
April 24, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28439288/systemic-mastocytosis-with-kit-v560g-mutation-presenting-as-recurrent-episodes-of-vascular-collapse-response-to-disodium-cromoglycate-and-disease-outcome
#20
Iolanda Conde-Fernandes, Rita Sampaio, Filipa Moreno, José Palla-Garcia, Maria Dos Anjos Teixeira, Inês Freitas, Esmeralda Neves, Maria Jara-Acevedo, Luis Escribano, Margarida Lima
BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes...
2017: Allergy, Asthma, and Clinical Immunology
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