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Undiagnosed skin lesions

Ayumi Yoshimura, Tetsuya Kibe, Kaori Irahara, Norio Sakai, Kenji Yokochi
A case of late-infantile Krabbe disease in a patient who presented with developmental regression and spastic quadriplegia in late infancy is reported. Brain magnetic resonance imaging (MRI) at 11 months of age showed predominant corticospinal tract involvement, which usually appears in adult Krabbe disease. Galactocerebrosidase activity in lymphocytes and skin fibroblasts was very low. Genetic testing revealed compound heterozygous mutations of the galactocerebrosidase (GALC) gene, c.635_646 delinsCTC and c...
2016: Japanese Clinical Medicine
K Staser, D Chen, J Solus, I S Rosman, A Schaffer, L Cornelius, G P Linette, R C Fields
Tumoral melanosis describes a pigmented lesion clinically similar to melanoma but on histology reveals dense aggregates of melanin-laden, benign macrophages without malignant cells. In the few reported cases so far, tumoral melanosis has arisen in the skin or lymph node of a patient with a regressed melanoma or an epithelioid tumour. As a marker of regressed primary melanoma, its discovery may prompt investigation and surveillance for undiagnosed local or metastatic disease. Here, we present a unique case of extensive tumoral melanosis arising during ipilimumab treatment of in-transit metastases from a previously excised melanoma...
August 2016: British Journal of Dermatology
Tommaso Lombardi, Roger Küffer
Dynamic concept of oral lichen planus. The diagnosis easy at early stages may become difficult in ancient lichen planus. Lichen planus is a chronic inflammatory dermatosis of the skin, skin appendages and mucous membranes, which frequently affects the oral mucosa. Its aetiology still remains unknown, and currently accepted pathogenesis is that of an autoimmune cell-mediated disease. To the contrary of skin lichen planus, oral lichen planus is a long-term chronic disease with dynamic evolution, in which progressive and profound changes of the clinical and histopathological aspects occur over time and under the influence of various exogenous factors...
February 2016: La Presse Médicale
Sandamalee Herath, Mitrakrishnan Rayno Navinan, Isurujith Liyanage, Nadeesha Rathnayaka, Jevon Yudhishdran, Janakie Fernando, Ganga Sirimanne, Aruna Kulatunga
BACKGROUND: Lucio's phenomenon is a rare manifestation of untreated leprosy which is seen almost exclusively in regions surrounding the Gulf of Mexico. Its occurrence elsewhere though documented is considered uncommon. We present a case of Lucio's phenomenon in a previously undiagnosed leprosy patient who presented to us with its classical skin manifestations. CASE PRESENTATION: A 64 year old South Asian (Sri Lankan) male with a history of chronic obstructive airway disease presented to us with fever and cough...
2015: BMC Research Notes
Swagata Ganguly, Pabitra Saha, Moytrey Chatterjee, Surajit Roy, Tamal Kanti Ghosh, Subhasish K Guha, Pratip K Kundu, Dilip K Bera, Nandita Basu, Ardhendu K Maji
Post Kala-azar Dermal Leishmaniasis (PKDL) is a chronic but not life-threatening disease; patients generally do not demand treatment, deserve much more attention because PKDL is highly relevant in the context of Visceral Leishmaniasis (VL) elimination. There is no standard guideline for diagnosis and treatment for PKDL. A species-specific PCR on slit skin smear demonstrated a sensitivity of 93.8%, but it has not been applied for routine diagnostic purpose. The study was conducted to determine the actual disease burden in an endemic area of Malda district, West Bengal, comparison of the three diagnostic tools for PKDL case detection and pattern of lesion regression after treatment...
2015: PLoS Neglected Tropical Diseases
Judith Livingstone, Jessica Solomon
BACKGROUND: In the cost-constrained NHS and in the quest for rapid diagnosis, teledermatology is a tool that can be used within general practice to aid in the diagnosis of benign-looking skin lesions and reduce referrals to secondary care. The setting for the study was a single general practice of 6500 patients in suburban Greater London. The aim of the study was to determine: (1) whether teledermatology in a single general practice is cost-effective, (2) whether the correct types of cases are being referred, and (3) if patients are satisfied with the service...
2015: London Journal of Primary Care
Jodie E Totten, Douglas M Brock, Tod D Schimelpfenig, Justin L Hopkin, Roy M Colven
OBJECTIVE: Previously unclassified inflammatory skin lesions referred to as sun bumps have been observed throughout the year on participants of wilderness trips; however, the underlying cause and diagnosis remain unclear. The purpose of this prospective observational study was to document the incidence, characteristics, and risk factors associated with these skin lesions as they occurred on a winter wilderness expedition. METHODS: For this study, the lesions were defined as pruritic or erythematous skin lesions occurring while in the wilderness...
December 2015: Wilderness & Environmental Medicine
I Raposo, T Torres
Psoriatic arthritis is a psoriasis-related spondyloarthropathy that occurs in 20-30% of patients with psoriasis. Various imaging studies have demonstrated that there is a considerable proportion of undiagnosed psoriatic arthritis among patients with psoriasis. Since early detection and treatment of psoriatic arthritis could, ultimately, allow the prevention of clinical and radiologic progression of the disease, there is the need to establish clinical indicators to detect this risk. Nail psoriasis has been proposed as a predictor for the development of psoriatic arthritis...
July 2015: Actas Dermo-sifiliográficas
Jessica Lambert, Alexis Rodriguez, Mischelle Pearcy-Baluyot, Sanjeet K Shahi
Cutaneous leukocytoclastic vasculitis (LCV) is a systemic condition that can be associated with iritis. LCV is characterized as a small-vessel vasculitis of the cutaneous area. The disease demonstrates purple lesions on the skin due to the destruction of small cutaneous blood vessels. These lesions are palpable and most often coalesce forming larger patches on the surface of the skin. During early stages of LCV, the disease can be undetected due to the infrequency and small size of the skin lesions. As such, the patient might go undiagnosed for years while having symptoms of LCV or iritis of unknown etiology...
May 2015: Military Medicine
Vikram K Mahajan, C Abhinav, Karaninder S Mehta, Pushpinder S Chauhan
Erythema nodosum leprosum (ENL) lesions may uncommonly develop ulceration, necrosis, pustulation or bullae. This 60 year-old female was hospitalised with previously undiagnosed multibacillary (BL) leprosy and Sweet's syndrome-like ENL, a presentation that is rarely reported. In addition to skin lesions simulating Sweet's syndrome, she had anaemia, elevated ESR, and a peripheral leucocytosis with neutrophilia, the laboratory features of Sweet's syndrome. The final diagnosis was made from chronic iridocyclitis, presence of lepra bacilli in slit-skin smears, and histology...
December 2014: Leprosy Review
A Plana Pla, J Bassas-Vila, S Roure, C Ferrándiz
Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinaemia, T-cell abnormalities and recurrent bacterial infections. Patients with CVID can present granulomatous lesions on both the skin and other organs. When these lesions are the first sign of the disease, the diagnosis can be very challenging. We report the case of a patient with undiagnosed CVID, who presented with necrotizing and sarcoidal granulomas on the skin and synovial membrane as the first appearance of immunodeficiency...
June 2015: Clinical and Experimental Dermatology
Lene Ugilt Pagter Ludvigsen, Ole Schmeltz Søgaard
Oral lesions such as candidiasis, Kaposi's sarcoma, hairy leukoplakia, herpes simplex infection, and ulcerative periodontitis are associated with HIV infection and may be the primary presentation in persons with undiagnosed HIV. We report a clinical case in which an 80-year-old man presented with an oral ulcer with morphological signs of immuno-suppression. The patient was perceived to be at low risk of HIV infection and thus, diagnostic HIV testing was delayed until subsequent development of Kaposi's sarcoma on the skin...
December 15, 2014: Ugeskrift for Laeger
Angeliki Giannelou, Qing Zhou, Daniel L Kastner
PURPOSE OF REVIEW: Next-generation sequencing is revolutionizing the molecular taxonomy of human disease. Recent studies of patients with unexplained autoinflammatory disorders reveal germline genetic mutations that target important regulators of innate immunity. RECENT FINDINGS: Whole-exome analyses of previously undiagnosed patients have catalyzed the recognition of two new disease genes. First, a phenotypic spectrum, including livedo racemosa, fever with early-onset stroke, polyarteritis nodosa, and Sneddon syndrome, is caused by loss-of-function mutations in cat eye syndrome chromosome region, candidate 1 (CECR1), encoding adenosine deaminase 2...
December 2014: Current Opinion in Allergy and Clinical Immunology
Sjoerd H den Uil, Irene Thomassen, Erik Gj Vermeulen, Ronald Jclm Vuylsteke, Hein Bac Stockmann, Mattijs de Vries
The incidence of melanoma has been increasing over the years and it remains, despite the heterogeneous survival for different stages, a disease with high mortality. Dissemination occurs primarily by the lymphatic route, followed by the hematogenous route. Gastrointestinal metastases do occur, but they are mainly intraluminal mucosal melanomas. Peritoneal or primary mucosal melanomas are rare. Only a few cases have been described of patients presenting with acute abdominal pain due to a melanoma. In this report we present a young patient with no prior health problems...
July 2014: Tumori
Marc B Armstrong, Jalil Thurber
BACKGROUND: Kaposi's sarcoma is significantly prevalent among men infected with the human immunodeficiency virus, accounting for >90% of all cases. The early presentation of KS typically involves mucocutaneous lesions and lymphadenopathy, and more advanced disease can affect the lungs and other organs. OBJECTIVE: Our aim was to remind emergency physicians to remain suspicious of clinical presentations despite previous diagnoses or patient statements, particularly in patients with risk factors...
November 2014: Journal of Emergency Medicine
Dana L Ellis, Ryan R Riahi, Andrea T Murina, Philip R Cohen
Metastatic skin lesions from a primary squamous cell carcinoma of the head and neck have only been reported in 1%-2% of these patients. Hence, skin metastases from laryngeal carcinoma are uncommon. Also, cutaneous metastases clinically presenting as a keratoacanthoma are rare. We describe cutaneous metastases in a radiation port clinically mimicking eruptive keratoacanthomas. Using the PubMed database, an extensive literature search was performed using the keywords cancer, carcinoma, keratoacanthoma, laryngeal, metastases, metastasis, metastatic, mimicking, port, radiation, radiotherapy, radiation, skin, visceral...
September 2014: Dermatology Online Journal
Harshad N Vijayakar, Pratik P Shah, Ankit B Desai, Sugandha R Ghonasgi, Ravindra J Gawankar
Desquamative gingivitis is a gingival response associated with a variety of clinical conditions and characterized by intense erythema, desquamation and ulceration of free and attached gingiva. A variety of diseases such as lichen planus, pemphigus, pemphigoid, dermatitis herpetiformis, linear IgA disease, lupus erythematosus, erythema multiformae manifest clinically as desquamative gingivitis. Of all the disease entities, Lichen Planus is a relatively common disorder affecting the skin and mucous membrane. Very often it has oral manifestations...
May 2014: Journal of Indian Society of Periodontology
Ulvi Yalcin, Kadri Murat Gurses, Duygu Kocyigit, Metin Isik, Necla Ozer
Behçet's disesase is a vasculitis that manifests with oral and genital ulcerations, skin lesions, uveitis, vascular, central nervous system and gastrointestinal involvement. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and central nervous system disease. This is the first case in the literature, where the diagnosis of Behçet's disease was made secondary to concomitant involvement of coronary and carotid arteries...
July 2014: Clinical and Experimental Rheumatology
Charlotte Kevern, Pleayo Tovaranonte, Roland Meyer, Alan Pithie
Mycobacterium marinum is a rare cause of cutaneous infection. The typical clinical picture consists of one or more discrete well circumscribed lesions affecting the upper limbs. However, a more exuberant form has been described in the South Pacific, where it is sometimes entitled 'Spam disease' given the infected skin's similar appearance to the canned food. We describe a case of this more extensive infection in a South Pacific Islander who appears to have acquired the infection in New Zealand, and remained undiagnosed for many years...
July 4, 2014: New Zealand Medical Journal
Ruquiya Afrose, Deepa Nebhnani, Neelam Wadhwa
Myeloid sarcoma, considered to herald the onset of a blast crisis in the setting of chronic myeloproliferative neoplasm/dysplasia, typically presents during the course of the disorder. Cutaneous involvement is uncommon and lesions on genital skin are seldom seen. We present a case of a well-differentiated myeloid sarcoma in the penile foreskin in an apparently healthy 29-year-old male presenting with phimosis. The unusual composition of the inflammatory cell infiltrate, and characteristic sparing of dermal blood vessels, nerves and smooth muscle fibres led to the correct diagnosis...
2015: Türk Patoloji Dergisi
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