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https://www.readbyqxmd.com/read/28816965/blue-rubber-bleb-nevus-syndrome-our-experience-and-new-endoscopic-management
#1
Wenguo Chen, Hongtan Chen, Guodong Shan, Ming Yang, Fengling Hu, Qi Li, Lihua Chen, Guoqiang Xu
The aim of our study is to enhance the awareness of blue rubber bleb nevus syndrome (BRBNS) through the patients in our hospital and introduced a new measure of endoscopic intervention.A retrospective review of 5 patients, who were diagnosed as BRBNS in our hospital from January 2013 to January 2017, was conducted. Data were collected with regard to demographics, clinical presentation, endoscopic and imaging findings, management, and follow-up data.In total of 5 patients, the mean age was 28.8 years, range 16 to 44 years (male/female, 1/4) with the average initial age of onset 15...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28813744/alkaptonuria-a-case-report-with-diagnostic-challenge
#2
Vasantha L Gali, Amy M Kerkvliet, Jacob M Kusmak, Jana K Elwood
Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, the only enzyme capable of catabolizing HGA. Deficiency of this enzyme leads to excess HGA which deposits in the connective tissue. We present a case of a 64-year-old woman who was referred to the dermatology clinic for a full body mole check and skin cancer screening. Clinically she had blue/gray pigmentation of the external ear and sclera. Also she had a domed papule on the left cheek with punctate gray pigmentation which was biopsied...
August 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28813743/combined-melanocytic-nevus-superficial-congenital-and-deep-penetrating-types-with-fibroepithelioma-of-pinkus-collision-tumor-a-case-report
#3
Ashwyna Sunassee, Amy M Kerkvliet, Ali D Jassim
We present a case of collision tumor composed of a combined melanocytic nevus with superficial congenital and deep penetrating components and a fibroepithelioma of Pinkus on the left lumbar back of a 21-year-old male. He presented to the dermatologist for evaluation of numerous moles, and the lesion in question was described as a brown variegated papule with slightly irregular shape and irregular borders. This case is being reported as it is very unusual to see a fibroepithelioma of Pinkus in conjunction with a melanocytic lesion...
August 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28812115/-smooth-muscle-hamartoma-in-volar-skin
#4
M Schüürmann, H Kutzner, J C Simon, M Ziemer
We report the case of a 12-year-old girl with a smooth muscle hamartoma of the right index finger. Smooth muscle hamartoma (SMH) is a congenital, relatively common disorder typically with predominance of autochthonal arrector pili muscles. An SMH can also rarely originate from smooth muscles of vessels in palmoplantar skin with the absence of pilosebaceous units. Because of overlapping histological features, the possibility of Becker's nevus being identical or associated with SMH has often been suspected by some authors...
August 15, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28809862/gnaq-and-gna11-mutations-and-downstream-yap-activation-in-choroidal-nevi
#5
M J C Vader, M C Madigan, M Versluis, H M Suleiman, G Gezgin, N A Gruis, J J Out-Luiting, W Bergman, R M Verdijk, M J Jager, P A van der Velden
BACKGROUND: Mutations in GNAQ/11 genes are considered an early event in the development of uveal melanoma that may derive from a pre-existing nevus. The Hippo pathway, by way of YAP activation, rather than MAP kinase, has a role in the oncogenic capacity of GNAQ/11 mutations. METHODS: We investigated 16 nevi from 13 human eyes for driver GNAQ/11 mutations using droplet digital PCR and determined whether nevi are clonal by quantifying mutant nevus cell fractions...
August 15, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28809777/pigmented-epithelioid-melanocytoma-pem-animal-type-melanoma-atm-quest-for-an-origin-report-of-one-unusual-case-indicating-follicular-origin-and-another-arising-in-an-intradermal-nevus
#6
Ashley Tarasen, J Andrew Carlson, M Kathryn Leonard, Glenn Merlino, David Kaetzel, Andrzej T Slominski
Pigmented epithelioid melanocytoma (PEM) is a tumor encompassing epithelioid blue nevus of Carney complex (EBN of CNC) and was previously termed animal-type melanoma. Histologically PEMs are heavily pigmented spindled and epithelioid dermal melanocytic tumors with infiltrative borders, however, their origin remains unclear. Stem cells for the epidermis and hair follicle are located in the bulge area of the hair follicle with the potential to differentiate into multiple lineages. Multiple cutaneous carcinomas, including follicular cutaneous squamous cell carcinoma (FSCC), are thought to arise from stem cells in the follicular bulge...
August 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28806214/choroidal-nevi-with-focal-choroidal-excavation-and-polypoidal-choroidal-neovascularization
#7
Daniel Simhaee, Rosa Dolz-Marco, K Bailey Freund
PURPOSE: To report two cases of choroidal nevi associated with focal choroidal excavation (FCE) and polypoidal choroidal neovascularization (PCN). METHODS: Report of two patients with choroidal nevi showing FCE and PCN who underwent multimodal imaging including color fundus photography, fluorescein angiography, indocyanine green angiography, fundus autofluorescence, spectral domain optical coherence tomography, swept-source optical coherence tomography, and optical coherence tomography angiography...
August 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28804956/spontaneous-regression-of-a-nail-matrix-melanocytic-nevus-in-a-child
#8
Austin John Maddy, Antonella Tosti
A 14-year-old Hispanic boy presented with a 0.25-mm wide, sharply demarcated, dark brown band of longitudinal melanonychia of the left thumbnail. A clinical diagnosis of nail matrix nevus was made and the boy was scheduled for follow-up. The band showed proximal fading after 6 months and had completely faded after 11 months, with the proximal nail fold showing small dark brown dots on dermoscopy. We documented the spontaneous regression of melanonychia over 11 months.
August 14, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28802492/blue-nevi-and-related-tumors
#9
REVIEW
Artur Zembowicz
The major entities related to blue nevus are common blue nevus, cellular blue nevus, atypical blue nevus, and malignant blue nevus. These lesions share presence of dermal pigmented dendritic melanocytes derived from embryonal precursors to melanocytes, Schwann cells, and glial cells migrating to the skin from the ventral neural crest. Genetically, blue nevi harbor mutations in G-protein-coupled receptor subunits GNAQ and GNA11. Progression to malignant blue nevus is associated with additional mutations and partial gains and losses of chromosomal material...
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28801376/cellular-blue-nevus-of-perilimbal-conjunctiva-a-case-report-and-review-of-literature
#10
Tiangeng He, Chunjie Mao, Dongbo Xu, Hua Yan
Cellular blue nevus is an uncommon neoplasm in the conjunctiva. Here we present an unusual case of a cellular blue nevus that clinically resembled conjunctival melanoma. A 29-year-old Chinese male was found to have a giant pigmented lesion of the conjunctiva around the limbal area of right eye from birth. Excisional biopsy with no-touch technique, lamellar corneal transplantation, amniotic membrane transplantation and adjuvant cryotherapy were performed. Histopathology revealed a nodular, well-defined tumor, which was composed of heavily pigmented dendritic cells and less pigmented spindle cells...
August 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28796100/single-stage-reconstruction-of-eyebrow-defect-using-a-v-y-advancement-pedicle-flap-based-on-the-orbicularis-oculi-muscle
#11
Hai-Peng Liu, Ying Shao, Duo Zhang
Eyebrows play an important role in face expression and facial mimics by virtue of muscle contraction. Defects or deformity of the eyebrows result in abnormal facial expressions, and may lead to aesthetic issues for patients. The objective of this study is to report the case of a patient, with a congenital skin pigmented nevus at the right side of the eyebrow treated with direct surgical resection and followed by immediate reconstruction of the eyebrow with a V-Y advancement pedicle flap based on the orbicularis oculi muscle...
August 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28796000/genomic-analysis-of-pigmented-epithelioid-melanocytomas-reveals-recurrent-alterations-in-prkar1a-and-prkca-genes
#12
Jarish N Cohen, Nancy M Joseph, Jeffrey P North, Courtney Onodera, Artur Zembowicz, Philip E LeBoit
Pigmented epithelioid melanocytoma (PEM) is a rare cutaneous melanocytic tumor first described as epithelioid blue nevus in patients with the Carney Complex (CC). PEM was among the first established examples of an intermediate class of melanocytic tumors, including atypical Spitz tumors, with frequent metastasis to lymph nodes but only rare extranodal spread. Sporadic and CC-associated PEM are essentially histologically indistinguishable. A subset of PEM shows loss of cytoplasmic expression of the protein kinase A regulatory subunit alpha (PRKAR1A), a tumor suppressor gene mutated in 70% of families with CC...
August 8, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28794873/congenital-and-infantile-malignant-melanoma-of-the-scalp-a-systematic-review
#13
REVIEW
Sohaib Tariq, Hussain Shallwani, Muhammad Waqas, Muhammad Ehsan Bari
Congenital and infantile malignant melanomas are rare and typically carry poor prognosis. The purpose of this article was to review the data on congenital and infantile malignant melanomas of the scalp in order to understand its presentation, diagnosis, management, and outcomes of congenital melanoma of scalp. We searched PubMed, CINAHL and Cochrane databases. Ten cases of congenital and 3 cases of infantile malignant melanoma of scalp were identified. The diagnosis was confirmed by biopsy and histological analysis for confirmation...
September 2017: Annals of Medicine and Surgery
https://www.readbyqxmd.com/read/28794560/nevus-lipomatosus-cutaneous-superficialis-with-unusual-presentation-over-the-nipple
#14
Shilpa Bairwa, Mahak Sharma, Ashok Sangwaiya, Sapna Singla, Karuna Gupta, Ajay Yadav
No abstract text is available yet for this article.
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28783212/giant-cutaneous-horn-arising-in-an-epidermal-nevus
#15
Michael A Cardis, Anna Yasmine Kirkorian
Cutaneous horns, which rarely occur in children, can overlie a large array of pathologic lesions that range from benign to malignant. When a cutaneous horn is encountered, it is not the horn itself that is of relevance, it is the nature of the underlying disease that dictates overall prognosis and management. In this report we present a case of a cutaneous horn arising within a linear verrucous epidermal nevus and briefly review cutaneous horns, with an emphasis on their clinical implications and differential diagnosis...
August 7, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28777481/a-human-case-of-slc35a3-related-skeletal-dysplasia
#16
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, Donna M McDonald-McGinn, Xueli Li, Miao He, Elaine H Zackai
Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28776772/dynamic-optical-coherence-tomography-of-skin-blood-vessels-proposed-terminology-and-practical-guidelines
#17
M Ulrich, L Themstrup, N de Carvalho, S Ciardo, J Holmes, R Whitehead, J Welzel, G B E Jemec, G Pellacani
BACKGROUND: Dynamic optical coherence tomography (D-OCT) has recently been introduced in dermatology. In contrast to 'Standard' OCT imaging, which exclusively relies on the morphological analysis of the tissue, D-OCT allows the in-vivo visualisation of blood flow. Preliminary D-OCT data showed differences in the vascularisation of nevus to melanoma transition, suggesting that this technology may help to differentiate between benign and malignant lesions. OBJECTIVE: Several factors may influence the quality of D-OCT imaging...
August 4, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28764861/silencing-of-metallothionein-1a-gene-in-melanoma
#18
Yoshimasa Nobeyama, Hidemi Nakagawa
BACKGROUND: When a CpG island (CGI; a dense cluster of CpGs) located in the 5' region of a gene is methylated, its transcription is suppressed. Tumorigenesis of melanoma is associated with trace elements. Metallothionein 1A is closely associated with the metabolism of trace elements. However, little is known about the metallothionein 1A gene (MT1A) in melanoma. OBJECTIVE: The purpose is to reveal the methylation and expression status of MT1A in melanoma. METHODS: Quantitative real-time methylation-specific PCR (RT-MSP) and bisulfite sequencing were performed to examine MT1A methylation status...
July 21, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28763334/pseudomelanomas-following-stevens-johnson-syndrome
#19
Nima Mesbah Ardakani, Shevya M Tiwari, Benjamin A Wood
In this report, we present a novel case of pseudomelanoma, similar to that seen in a recurrent/traumatized nevus, in pre-existing nevi in a 36-year-old man a few months after recovering from an episode of severe Stevens-Johnson syndrome. The mechanism responsible for the atypical transformation of these nevi is likely the release of cytokines and growth factors in the microenvironment during the repair/regeneration process. It is important to be aware of this phenomenon, and specific inquiry about potential recent blistering skin disorder in addition to the other causes of trauma should be made when dealing with cases of pseudomelanoma to avoid misdiagnosis...
July 26, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28761293/treatment-and-classification-of-nevus-of-ota-a-seven-year-review-of-a-single-institution-s-experience
#20
Jae-Hui Nam, Han-Saem Kim, Young Jun Choi, Ho Joo Jung, Won-Serk Kim
BACKGROUND: Nevus of Ota (NO) is a relatively common pigmentary disorder in Asians. Tanino's classification is an old but tacit consensus to delineate the disease. Various treatment options have been presented. However, a few studies have been conducted on available laser options and current treatment strategies or the classification of NO. OBJECTIVE: To investigate current laser options and their effectiveness for the treatment of NO, contributing factors to clinical outcomes, and verification of classification...
August 2017: Annals of Dermatology
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