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maculer disease

Florentina Joyce Freiberg, Erdmute Kunstmann, Thomas König, Juliane Matlach, Daniel Kampik
Background: To present a case of conjunctival lymphangioma in a 4-year-old girl with tuberous sclerosis complex. Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like dilation of lymphatic vessels and right-sided facial swelling with mild pain. Best-corrected vision was not impaired. Examination of the skin revealed three hypomelanotic macules and a lumbal Shagreen patch. Magnetic resonance imaging (MRI) findings displayed minimal enhancement of buccal fat on the right side...
2016: GMS Ophthalmol Cases
Aparajita Ghosh, Arijit Coondoo
A pigmented variant of lichen planus (LP) was first reported from India in 1974 by Bhutani et al. who coined the term LP pigmentosus (LPP) to give a descriptive nomenclature to it. LP has a number of variants, one of which is LPP. This disease has also later been reported from the Middle East, Latin America, Korea, and Japan, especially in people with darker skin. It has an insidious onset. Initially, small, black or brown macules appear on sun-exposed areas. They later merge to form large hyperpigmented patches...
September 2016: Indian Journal of Dermatology
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
September 22, 2016: Molecular Medicine Reports
Young H Lim, Keith A Choate
Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, and Suzuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this disorder.
October 2016: Journal of Investigative Dermatology
Prashiela Manga, Nada Elbuluk, Seth J Orlow
Vitiligo, an acquired depigmentation disorder, manifests as white macules on the skin and can cause significant psychological stress and stigmatization. Recent advances have shed light on key components that drive disease onset and progression as well as therapeutic approaches. Vitiligo can be triggered by stress to the melanin pigment-producing cells of the skin, the melanocytes. The triggers, which range from sunburn to mechanical trauma and chemical exposures, ultimately cause an autoimmune response that targets melanocytes, driving progressive skin depigmentation...
2016: F1000Research
Rusen Uzun, Arzu Didem Yalcin, Betul Celik, Tangul Bulut, Ata Nevzat Yalcin
BACKGROUND Toxic epidermal necrolysis (TEN) is characterized by widespread erythematous and bullous lesions on the skin. Nowadays, considerable progress has been made in the understanding of its pathogenesis. Immunologically it is similar to graft-versus-host disease. Therefore, we may propose that TEN is a disorder of cell-mediated immunity. CASE REPORT Our patient was a 74-year-old white female who had pneumonia and was positive for hepatitis C virus (HCV), and who had been on levofloxacin therapy. After the first levofloxacin dose, erythematous dusky red macules occurred on her extremities and trunk, and on the following day, confluent purpuric lesions tended to run together over 85% of her body...
2016: American Journal of Case Reports
Neeta Malviya, Alexander Marzuka, Mokhtar Maamed-Tayeb, Lu Le, Travis Vandergriff
We report the case of a patient with a long-standing history of extranodal, sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and no evidence of original cutaneous involvement as well as a history of herpes zoster of the left flank with post-herpetic neuralgia who went on to develop multiple, round-to-oval, red-brown, atrophic macules and thin papules at the sites of herpes zoster scars on the left flank. Histopathology showed a dense nodular infiltrate of lymphocytes with some plasma cells and numerous large pale-staining histiocytes (S100+/CD68+), consistent with Rosai-Dorfman disease...
September 9, 2016: Journal of Cutaneous Pathology
F-M Köhn
During complete inspection of skin a variety of penile skin alterations may be found. Not all dermatological findings have clinical relevance. Pearly papules and heterotopic sebaceous glands are physiological variations. Most penile melanotic macules, angiokeratoma, fibroma and angioma have not to be treated. However, other more severe diseases such as malignant skin lesions (erythroplasia of Queyrat), infectious disease (human papillomavirus-induced penile warts) or systemic skin diseases (psoriasis) may be detected...
October 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
J H Chong, D Mermin, J F Goussot, A Taïeb
A 3 year old girl of West African descent presented with asymptomatic skin lesions on her limbs, face, back and trunk which increased in number over a period of 1 year. She was well-thrived with no significant past medical history nor family history of atopic or autoimmune diseases. Examination showed a linear hypopigmented band in a blaschkoid distribution with a few scattered papules extending from her distal left arm to her anterior shoulder and chest (Fig. 1). There were also linear depigmented streaks which developed after trauma and depigmented macules on her limbs, back, face and trunk (Fig...
August 31, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Agata Janowska, Valentina Dini, Salvatore Panduri, Michela Macchia, Teresa Oranges, Marco Romanelli
Vitiligo is a multifactorial acquired dermatosis characterised by achromic or hypochromic macules and by the absence of functioning melanocytes. Treatment depends on the extent of the affected areas and on disease activity. Surgical techniques have proven to be effective in stable cases but can be time-consuming and, in some cases, aesthetically unsatisfying or painful for the patients. The aim of the study was to assess the clinical safety and effectiveness of a new automatic epidermal skin harvesting device in patients with stable localised vitiligo over a minimum 12-month period...
September 2016: International Wound Journal
Thiago Jeunon de Sousa Vargas, Clara Morena Abreu Raposo, Ricardo Barbora Lima, Ana Luisa Sampaio, Ana Beatriz Bordin, Maria Auxiliadora Jeunon Sousa
Prurigo pigmentosa (PP) is a rare inflammatory disease of the skin of uncertain etiology first reported in Japan. It is typified by recurrent eruptions of itching urticarial macules, papules, vesicopapules, and plaques with a reticular arrangement that quickly resolve leaving a net-like pigmentation. The disease presents specific histopathological features. Herein, 3 cases of PP in Brazilians with no Japanese ancestry are reported and a revision of all previous English-language case reports indexed on PubMed is provided...
August 16, 2016: American Journal of Dermatopathology
Hajar Souldi, Mohammed Yahya Bajja, Meriem Chenguir, RedaLah Abada, Samy Rouadi, Mohammed Roubal, Mohammed Mahtar
INTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by café-au-lait macules, neurofibromas, and iris hamartomas. Carotid artery aneurysms rarely affect patients with NF-1 but may be associated with rupture. We report the first episode of a ruptured external carotid aneurysm with severe life-threatening airway obstruction in a NF-1 patient. PRESENTATION OF CASE: We report a case of NF-1 32-year-old woman admitted to our department for life-threatening upper airway obstruction caused by spontaneous expanding swelling in the left sided neck...
2016: International Journal of Surgery Case Reports
Aysegul Uludağ, Sevilay Oguz Kılıc, Selda Isık, Yusuf Haydar Ertekin, Murat Tekin, Sibel Cevizci, Zerrin Ogretmen, Naci Topaloglu, Erkan Melih Sahin, Birol Cıbık
INTRODUCTION: Skin lesions may be of dermatological importance, affect appearance, and cause problems communicating with peers and may be especially more significant in childhood. AIM: Information on the prevalence of pediatric dermatoses in Western Turkey. This study was aimed to define the existing data. MATERIAL AND METHODS: A cross-sectional study was conducted in Canakkale, Turkey, in September-December 2013. It involved 1,957 students from five randomly selected primary and secondary schools...
June 2016: Postȩpy Dermatologii i Alergologii
Sneha Mitra, Ayan Kumar Pati, Alak Manna, Arghyaprasun Ghosh, Sumit Sen, Suparna Chatterjee, Mitali Chatterjee
BACKGROUND: Vitiligo is an idiopathic skin disease manifested by depigmented macules. It is characterised by melanocyte destruction, and redox imbalance is proposed to play a contributory role. AIM: The aim of this study was to analyze the effects of an ethanolic extract of Piper betle leaves on the generation of reactive oxygen species in erythrocytes sourced from vitiligo patients. METHODS: The effect of Piper betle on the generation of reactive oxygen species in erythrocytes was measured by flow cytometry in patients with active and stable vitiligo versus healthy controls, using 5-(and-6)-chloromethyl-2'- 7'- dichlorodihydrofluorescein diacetate...
August 4, 2016: Indian Journal of Dermatology, Venereology and Leprology
Sveta Janković, Marijana Nikolić, Aleksandra Simović, Ana Vujić
INTRODUCTION: Henoch-Schönlein purpura (HSP) is a small blood vessel vasculitis, which usually manifests during childhood. The exact cause of the disease is unknown. CASE REPORT: We reported a 14-year-old girl who had been admitted to our clinic due to the appearance of red macules on her extremities and face, vomiting, and pain in the abdomen and joints. The patient was initially diagnosed with Henoch-Schönlein purpura. At the end of the fourth week of illness, larvae of Strongyloides stercoralis were detected in stool samples...
May 2016: Vojnosanitetski Pregled. Military-medical and Pharmaceutical Review
Wen-Chien Tsai, Jui Lan, Chih-Hung Lee
A 14-year-old girl developed brownish round macules and patches over the face, trunk, and proximal limbs with extensive progression since she was 7 years old. Electron microscopy examination revealed an increase in the number and maturity of melanosomes in basal and suprabasal keratinocytes, although the number of melanocytes was within the normal range. A diagnosis of idiopathic eruptive macular pigmentation was made. We describe the unusual disease progression of this case of idiopathic eruptive macular pigmentation, which was thought to be self-limited...
September 2016: Pediatric Dermatology
Melinda Pierce, Brian Scottoline
McCune-Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of GNAS1 encoding the Gs α subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades. We present a patient with neonatal MAS who initially presented with neonatal diabetes and concern for congenital cardiac disease, and subsequently was found to have significant ACTH-independent neonatal Cushing syndrome. Her course included multi-system organ involvement, although she initially did not have obvious findings consistent with the MAS classic triad of café-au-lait macules, fibrous dysplasia, or peripheral precocious puberty...
July 13, 2016: American Journal of Medical Genetics. Part A
Evie C Knight, John S Munday, Brett M Stone, Michael A Shipstone
BACKGROUND: Canine pigmented viral plaque (PVP) is an uncommon skin disease, associated with papillomavirus infection. Lesions are usually small (<1 cm diameter), pigmented macules to plaques on the ventral abdomen and medial thigh. ANIMALS: An 8-year-old male, neutered golden retriever dog presented with numerous dark plaques forming cohesive plaques on the ventrum extending down the medial aspect of both hind legs. The plaques were associated with significant pruritus...
October 2016: Veterinary Dermatology
D G Evans, N Bowers, E Burkitt-Wright, E Miles, S Garg, V Scott-Kitching, M Penman-Splitt, A Dobbie, E Howard, J Ealing, G Vassalo, A J Wallace, W Newman, S M Huson
BACKGROUND: The detection rate for identifying the underlying mutation in neurocutaneous syndromes is affected by the sensitivity of the mutation test and the heterogeneity of the disease based on the diagnostic criteria. Neurofibromatosis type (NF1) has been defined for 29years by the National Institutes for Health (NIH) criteria which include ≥6 Café au Lait macules (CAL) as a defining criterion. The discovery of SPRED1 as a cause of Legius syndrome which is manifested by CAL, freckling and learning difficulties has introduced substantial heterogeneity to the NIH criteria...
May 2016: EBioMedicine
Mehmet Ali Duman, Nilgün Selçuk Duru, Bahar Çalışkan, Hale Sandıkçı, Ferhat Çengel
BACKGROUND: Henoch-Schönlein Purpura (HSP) is a systemic hypersensitivity disease of unknown cause that is characterized by a purpuric rash and systemic manifestations, such as colicky abdominal pain, polyarthralgia, and acute glomerulonephritis. Common complications of HSP that lead to surgical intervention include intussusception, perforation, necrosis, and massive gastrointestinal bleeding. Unusual clinical manifestations of HSP may include edema of the scrotum and eyes. Lumbar swelling is rarely seen as a complication of HSP...
May 2016: Balkan Medical Journal
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