keyword
https://read.qxmd.com/read/30653639/common-neonatal-skin-lesions-melanocytic-nevi-pigment-alterations-and-nonmelanocytic-nevi
#21
REVIEW
Kaiane A Habeshian, A Yasmine Kirkorian
Birthmarks are common in the healthy population and are generally harmless. Certain presentations, however, raise concern for associated syndromes or potential complications. It is important for pediatricians to be familiar with both harmless and potentially concerning birthmarks. This article discusses congenital melanocytic nevi, café-au-lait macules, hypomelanotic macules, nevus depigmentosus, nevus anemicus, epidermal nevi, and nevus sebaceous, including potential syndromes and complications. [Pediatr Ann...
January 1, 2019: Pediatric Annals
https://read.qxmd.com/read/30631135/connexin43-mutations-linked-to-skin-disease-have-augmented-hemichannel-activity
#22
Miduturu Srinivas, Thomas F Jannace, Anthony G Cocozzelli, Leping Li, Nefeli Slavi, Caterina Sellitto, Thomas W White
Mutations in the gene (GJA1) encoding connexin43 (Cx43) are responsible for several rare genetic disorders, including non-syndromic skin-limited diseases. Here we used two different functional expression systems to characterize three Cx43 mutations linked to palmoplantar keratoderma and congenital alopecia-1, erythrokeratodermia variabilis et progressiva, or inflammatory linear verrucous epidermal nevus. In HeLa cells and Xenopus oocytes, we show that Cx43-G8V, Cx43-A44V and Cx43-E227D all formed functional gap junction channels with the same efficiency as wild-type Cx43, with normal voltage gating and a unitary conductance of ~110 pS...
January 10, 2019: Scientific Reports
https://read.qxmd.com/read/29731591/extensive-nevus-comedonicus-complicated-with-recurrent-abscesses-successfully-treated-with-surgical-resurfacing
#23
Narender Manikavachakan, Maheshwari Nallur Siddaraju, Sarangapani Chakrapani Rajendran, Aniketh Venkataraman
Nevus comedonicus is a rare epidermal abnormality of the pilosebaceous unit, which is congenital in most patients but may also appear early in childhood. It may be localized or have an extensive involvement, the latter showing a unilateral predominance with only a few cases presenting bilaterally. Extensive nevus comedonicus can be associated with musculoskeletal defects, eye and neurological involvement, which constitutes nevus comedonicus syndrome. Uncomplicated nevus comedonicus can be treated with topical keratolytics, diode, erbium laser, and ultrapulse CO2 laser...
January 2018: Journal of Cutaneous and Aesthetic Surgery
https://read.qxmd.com/read/29679282/burosumab-first-global-approval
#24
REVIEW
Yvette N Lamb
Burosumab (Crysvita® ; Kyowa Hakko Kirin Co., Ltd. and Ultragenyx Pharmaceutical Inc.) is a fully human monoclonal antibody directed at fibroblast growth factor 23 (FGF23). Excessive FGF23 production has been implicated in various hypophosphataemic diseases. Inhibition of FGF23 by burosumab results in increased renal phosphate reabsorption and increased serum levels of phosphorus and active vitamin D. In February 2018, the EMA granted subcutaneous burosumab conditional marketing authorization for the treatment of X-linked hypophosphataemia (XLH) with radiographic evidence of bone disease in children one year of age and older and adolescents with growing skeletons...
April 2018: Drugs
https://read.qxmd.com/read/29607000/basaloid-follicular-hamartoma-a-case-report-and-a-novel-cosmetic-treatment
#25
Kelly Segars, Hassie Cooper, Daniel J Hogan, Richard Miller, Michael Heaphy, James Spencer
Introduction: Basaloid follicular hamartoma (BFH) is a rare, benign neoplasm of the hair follicle, characterized by multiple brown papules involving the face, scalp, and trunk. It is described by multiple clinical forms, and can present as localized or generalized. Diagnosis is made histologically via biopsy, which is important in order to distinguish BFH from basal cell carcinoma (BCC) or other malignant epithelial neoplasms. Correct diagnosis allows for the avoidance of unnecessary surgeries to remove benign lesions...
March 2018: Journal of Clinical and Aesthetic Dermatology
https://read.qxmd.com/read/29488242/familial-papular-epidermal-nevus-with-skyline-basal-cell-layer-and-multiple-pilomatricomas-a-new-association
#26
Laura Rizzoli, Riccardo Balestri, Giulia Rech, Maria Grazia Zorzi, Luigi Speziali, Annalisa Pedrolli, Carlo Renè Girardelli
Papular epidermal nevus with "skyline" basal cell layer is a newly described keratinocytic nevus. Recently, papular epidermal nevus with "skyline" basal cell layer has been reported in association with extracutaneous involvement, and the term papular epidermal nevus with "skyline" basal cell layer syndrome is used to indicate a neurocutaneous syndrome characterized by the presence of papular epidermal nevus with "skyline" basal cell layer and different neurologic symptoms that seem to improve during infancy and adolescence...
May 2018: Pediatric Dermatology
https://read.qxmd.com/read/29396158/an-institution-wide-algorithm-for-direct-stick-embolization-of-peripheral-venous-malformations
#27
Naiem Nassiri, Lauren A Huntress, Mitchell Simon, Susan Murphy
OBJECTIVE: No standardized therapeutic algorithm or embolic agent of choice has yet been identified for management of congenital peripheral venous malformations (VMs). Treatment options and reported outcomes therefore vary widely. Herein, we present an institution-wide algorithm for management of symptomatic congenital peripheral VMs using a single embolotherapeutic modality. METHODS: During 36 months, patients with symptomatic congenital peripheral VMs underwent contrast-enhanced magnetic resonance imaging...
May 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://read.qxmd.com/read/29333836/-phakomatosis-pigmentovascularis-cesioflammea-a-case-report
#28
María C Viada Peláez, Paola C Stefano, Ana Cirio, Andrea B Cervini
Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma...
February 1, 2018: Archivos Argentinos de Pediatría
https://read.qxmd.com/read/29316280/giant-congenital-melanocytic-nevus-with-vascular-malformation-and-epidermal-cysts-associated-with-a-somatic-activating-mutation-in-braf
#29
Heather C Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frédéric Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas Macagno, Sven Krengel
Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year-old patient with a giant congenital melanocytic nevus (CMN) of the lower back, buttocks, and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it...
May 2018: Pigment Cell & Melanoma Research
https://read.qxmd.com/read/29204211/unusual-cause-of-west-syndrome
#30
Ananthanarayanan Kasinathan, Hansashree Padmanabh, Kirti Gupta, Naveen Sankhyan, Paramjeet Singh, Pratibha Singhi
Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period. Predominant neurological manifestations include epilepsy, intellectual impairment, and focal deficits. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus...
July 2017: Journal of Pediatric Neurosciences
https://read.qxmd.com/read/29044700/epidermal-nevus-syndromes-new-insights-into-whorls-and-swirls
#31
REVIEW
Sarah Asch, Jeffrey L Sugarman
Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous-skeletal hypophosphatemia syndrome...
January 2018: Pediatric Dermatology
https://read.qxmd.com/read/28937433/a-case-of-phacomatosis-pigmentokeratotica-associated-with-multiple-basal-cell-carcinomas
#32
Seung-Hee Loh, Bark-Lynn Lew, Woo-Young Sim
Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous...
February 2018: American Journal of Dermatopathology
https://read.qxmd.com/read/28818233/transcatheter-embolization-of-persistent-embryonic-veins-in-venous-malformation-syndromes
#33
Naiem Nassiri, Dustin Crystal, Lauren A Huntress, Susan Murphy
Persistent embryonic veins represent a major source of venous hypertension and morbidity in venous malformation syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevus, and skeletal deformities syndrome. Surgical stripping and phlebectomy are the most commonly reported alternatives to compression therapy for refractory cases. These techniques, although effective in those patients who meet the necessary anatomic criteria, can be associated with bleeding, wound-related complications, and recurrence...
September 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://read.qxmd.com/read/28574612/basal-cell-carcinoma-pathogenesis-and-therapy-involving-hedgehog-signaling-and-beyond
#34
REVIEW
Anshika Bakshi, Sandeep C Chaudhary, Mehtab Rana, Craig A Elmets, Mohammad Athar
Basal cell carcinoma (BCC) of the skin is driven by aberrant hedgehog signaling. Thus blocking this signaling pathway by small molecules such as vismodegib inhibits tumor growth. Primary cilium in the epidermal cells plays an integral role in the processing of hedgehog signaling-related proteins. Recent genomic studies point to the involvement of additional genetic mutations that might be associated with the development of BCCs, suggesting significance of other signaling pathways, such as WNT, NOTCH, mTOR, and Hippo, aside from hedgehog in the pathogenesis of this human neoplasm...
December 2017: Molecular Carcinogenesis
https://read.qxmd.com/read/28401074/proteus-syndrome-with-arteriovenous-malformation
#35
Ali Asilian, Atefeh Sadat Kamali, Nabet Tajmir Riahi, Neda Adibi, Fatemeh Mokhtari
Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome...
2017: Advanced Biomedical Research
https://read.qxmd.com/read/28207006/papillary-transitional-cell-bladder-carcinoma-and-systematized-epidermal-nevus-syndrome
#36
Adekemi Akingboye, Heather Schultz, Gina A Taylor
Epidermal nevus syndrome (ENS), also known as Solomon syndrome, is a rare neurocutaneous disorder defined by mosaicism. Epidermal nevus syndrome may be associated with a variety of systemic findings, several of which have been described in the literature, including but not limited to central nervous system abnormalities and internal malignancies. There is a paucity of reports of patients with both epidermal nevi and papillary transitional cell bladder carcinoma in the literature. We present a rare case of systematized epidermal nevi associated with development of papillary transitional cell bladder carcinoma in a young woman...
January 2017: Cutis; Cutaneous Medicine for the Practitioner
https://read.qxmd.com/read/28203156/papular-epidermal-nevus-with-skyline-basal-cell-layer-syndrome-natural-course-case-report-and-literature-review
#37
Carole Anouk Zahn, Peter Itin
Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease...
January 2017: Case Reports in Dermatology
https://read.qxmd.com/read/28150681/epidermal-nevus-syndrome
#38
S M Shanmugham Pillai, Vinod Jacob Cherian
A seven year old male child had epidermal nevus syndrome manifesting as delayed mile stones, micro-cephaly, short stature, central nervous system abnormalities like ocular palsies with nystagmus, cutaneous manifestation of nevus unius lateris and a bone cyst at the lower end of right femur.
November 1986: Indian Journal of Dermatology, Venereology and Leprology
https://read.qxmd.com/read/28150668/epidermal-nevus-syndrome-with-fibrous-dysplasia
#39
Y V Tawade, Anand Pandit, Anand Kelkar, B B Gokhale, A P Parakh
A 10-year-old girl developed epidermal nevus, shortness of limb, scoliosis, hemiatrophy with history of multiple pathological fractures. Bone biopsy revealed fibrous dysplasia. This is an extremely rare combination of epidermal nevus with fibrous dysplasia.
March 1986: Indian Journal of Dermatology, Venereology and Leprology
https://read.qxmd.com/read/28111793/dermoscopy-of-papular-epidermal-nevus-with-skyline-basal-cell-layer
#40
Riccardo Balestri, Laura Rizzoli, Giulia Rech, Carlo Renè Girardelli
Papular epidermal nevus with skyline basal cell layer (PENS) is a newly described keratinocytic nevus whose dermoscopic characteristics have not been clarified. We used a dermatoscope to investigate the multiple PENSs of a patient with PENS syndrome. All the lesions shared a common dermoscopic homogeneous white pattern surrounded by peripheral, slightly dotted hyperpigmentation. The smallest lesions had no other features, whereas the largest lesions had some scaling, directly proportional to their dimension, and a central, clear, pink discoloration...
March 2017: Pediatric Dermatology
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