3,048 results match your criteria Congenital Nevi


Proportionate growth of congenital nevi: Blow a balloon to explain.

Pediatr Dermatol 2018 Jun 22. Epub 2018 Jun 22.

Department of Dermatology, Venereology, and Leprosy, Sri B.M. Patil Medical College, Hospital& Research Center, BLDE University, Vijayapur, Karnataka, India.

Any form of congenital nevus in a child is a cause of parental anxiety. Parents are often worried about the future course of the lesion. Some of these lesions grow in extent with the child's growth and involve other body areas; others grow proportionate to the involved body part, giving an impression of apparent growth of the lesion. Read More

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Klippel-Trenaunay and Parkes-Weber syndromes: two case reports.

J Vasc Bras 2017 Oct-Dec;16(4):320-324

Universidade de São Paulo - USP, School of Medicine, Unit of Interventional Radiology, São Paulo, SP, Brazil.

Parkes-Weber syndrome is a congenital vascular disease that comprises capillary, venous, lymphatic, and arteriovenous malformations. Although Parkes-Weber syndrome is a clinically distinct entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome, which consists of a triad of malformations involving the capillary, venous, and lymphatic vessels, without arteriovenous fistulas. Both syndromes are generally diagnosed with Doppler ultrasound and confirmed by magnetic resonance angiography. Read More

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Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome.

J Vasc Surg Venous Lymphat Disord 2018 Jul;6(4):511-516

Division of Vascular and Interventional Radiology, Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Mass. Electronic address:

Objective: Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE).

Methods: A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Read More

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Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Nature 2018 Jun 13. Epub 2018 Jun 13.

INSERM U1151, Institut Necker Enfants Malades, Paris, France.

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. Read More

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Macrodactyly with a complex glomuvenous malformation in CLOVES syndrome.

Histopathology 2018 Jun 8. Epub 2018 Jun 8.

Department of Pathology and Medical Biology.

Congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal anomalies (CLOVES) syndrome belongs to the spectrum of overgrowth syndromes caused by postzygotic mosaic activating mutations in PIK3CA. CLOVES syndrome is rare. The diagnosis of CLOVES syndrome relies on clinical presentation and imaging studies, and can be proven by molecular genetics. Read More

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The impact of pediatric skin disease on self-esteem.

Authors:
K L Vivar L Kruse

Int J Womens Dermatol 2018 Mar 12;4(1):27-31. Epub 2017 Dec 12.

Ann & Robert H. Lurie Children's Hospital, Chicago, IL.

Background: Pediatric skin disorders can affect children's self-esteem, relationships with caregivers and peers, and performance in school and activities.

Objective: This review describes common pediatric congenital and acquired dermatologic disorders and the impact that these disorders can have on children's self-esteem.

Methods: A review of current, English-language literature was conducted with use of the PubMed database. Read More

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[Application of amniotic membrane-living skin equivalent in repairing skin defect after removal of congenital giant nevus].

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi 2017 Dec;31(12):1495-1499

Department of Burns and Plastic Surgery, the Second Affiliated Hospital, Shantou University Medical College, Shantou Guangdong, 510041,

Objective: To investigate the feasibility of human amniotic membrane-living skin equivalent (AM-LSE) in repairing the skin defect.

Methods: A 5-year-old boy with giant nevus at neck, shoulder, and back was admitted in July 2016. Normal skin tissue of the patient was harvested and keratinocytes and dermal fibroblasts were separated and expanded . Read More

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December 2017

[Clinical research of sideburn reconstruction with expanded island scalp flap based on parietal branch of superficial temporal vessel].

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi 2017 Nov;31(11):1358-1362

No.11 Department of Plastic and Reconstructive Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical School, Beijing, 100144, P.R.China.

Objective: To explore the feasibility and effectiveness of sideburn reconstruction using the expanded island scalp flap based on the parietal branch of the superficial temporal vessel.

Methods: Between February 2012 and April 2015, 7 patients underwent sideburn reconstruction. There were 3 males and 4 females with an average age of 15 years (range, 4-44 years). Read More

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November 2017
2 Reads

Morphologic characteristics of nevi associated with melanoma: a clinical, dermatoscopic and histopathologic analysis.

Dermatol Pract Concept 2018 Apr 30;8(2):104-108. Epub 2018 Apr 30.

Department of Dermatology, Medical University Vienna, Vienna, Austria.

Background: The aim of this retrospective study was to determine the frequency of nevus-associated melanomas and to better characterize the preexisting nevus from a histopathologic, clinical and dermatoscopic point of view.

Methods: We reviewed the histopathologic slides of a consecutive series of 357 melanomas and corresponding clinical and dermatoscopic images, if available.

Results: We found that 31 (8. Read More

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April 2018
7 Reads

[Congenital "kissing Nevus" lid lesions].

J Fr Ophtalmol 2018 May;41(5):475-476

Service d'ophtalmologie, hôpital militaire Mohamed V, faculté de médecine et de pharmacie Rabat, université Mohammed V, 10000 Rabat, Maroc.

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Therapeutic effects of targeting RAS-ERK signaling in giant congenital melanocytic nevi.

Am J Transl Res 2018 15;10(4):1184-1194. Epub 2018 Apr 15.

Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Medical College of Shanghai Jiaotong University Shanghai, P. R. China.

Most giant congenital melanocytic nevi (GCMN) exhibit an activating mutation in NRAS. Constitutive activation of the RAS-ERK signaling pathway induces proliferation in nevus cells and plays a pivotal role in melanoma development. In this study, we studied the efficacy of RAS-ERK pathway targeted therapy in GCMN. Read More

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Extensive Nevus Comedonicus, Complicated with Recurrent Abscesses, Successfully Treated with Surgical Resurfacing.

J Cutan Aesthet Surg 2018 Jan-Mar;11(1):33-37

Department of Plastic Surgery, St Johns' Medical College and Hospital, Bengaluru, Karnataka, India.

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. Read More

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May 2018
1 Read

Improving classification of melanocytic nevi: BRAF V600E expression associated with distinct histomorphologic features.

J Am Acad Dermatol 2018 Apr 10. Epub 2018 Apr 10.

Dermatology, University of California, Davis, Sacramento, CA 95816; Pathology and Laboratory Medicine, University of California, Davis, Sacramento, CA 95816.

Background: A subset of melanomas carrying a BRAF V600E mutation, the most common targetable mutation in melanoma, arises in association with a melanocytic nevus also harboring a BRAF V600E mutation. The detailed histomorphologic characteristics of BRAF V600E-positive nevi are not systematically documented.

Objective: To identify histomorphologic features correlating with BRAF V600E status in nevi. Read More

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April 2018
1 Read

Clinical and dermoscopic characteristics of congenital melanocytic naevi.

J Eur Acad Dermatol Venereol 2018 Apr 6. Epub 2018 Apr 6.

1st Department of Dermatology - Venereology, 'Andreas Sygros' University Hospital, Athens, Greece.

Background: Prompted by the limited data, we conducted this study to gather more information on dermoscopic features of CN in children, in order to optimize clinical care and management.

Materials And Methods: All children with congenital nevi (CN) attending our Pediatric Pigmented Skin Lesion Unit during a 2-year period were included in the study. Clinical data were collected, and all children underwent clinical and dermoscopic examination. Read More

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April 2018
2 Reads

[Recurrent nevus: Case-report about a pagetoid form occurring from a congenital nevus in infancy].

Ann Chir Plast Esthet 2018 Apr 3. Epub 2018 Apr 3.

Service de chirurgie orale, chirurgie maxillo-faciale, chirurgies plastique, esthétique et reconstructive et de la main, boulevard de Lattre-de-Tassigny, CHU de Dijon, 21079 Dijon, France; Université de Bourgogne-Franche-Comté, Inserm 1231, Lipids Nutrition Cancer Team Nutox, boulevard Jeanne-d'Arc, 21000 Dijon, France. Electronic address:

Introduction: Recurrent nevus (RN) is a cutaneous benign tumour with similarities with malignant lesions. Typically, it occurs after a partial resection of commun-acquired nevus. Its incidence varies from 0. Read More

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April 2018
2 Reads

Congenital nevus lipomatosus cutaneous superficialis of Hoffman and Zurhelle on the sole.

Eur J Dermatol 2018 Apr 5. Epub 2018 Apr 5.

Department of Dermatology, Chonbuk National University Medical School, Jeonju, South Korea, Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Chonbuk National University Medical School, Jeonju, South Korea.

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April 2018
2 Reads

Giant congenital melanocytic nevus associated with cerebellar astrocytoma.

Eur J Dermatol 2018 Apr;28(2):254-255

Department of Neurosurgery, the First Affiliated Hospital of China Medical University, Shenyang, Liaoning, China.

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April 2018
2 Reads

Common and not so Common Melanocytic Lesions in Children and Adolescents.

Pediatr Dev Pathol 2018 Mar-Apr;21(2):252-270

1 Lauren V. Ackerman Laboratory of Surgical Pathology, St. Louis Children's Hospital, Washington University Medical Center, St. Louis, Missouri.

The acquired melanocytic nevus is the most common lesion encountered by pediatric pathologists and dermatopathologists in their daily practice. In most cases, there are few difficulties in histopathologic diagnosis. However, it is the acquired melanocytic lesion known as the Spitz nevus, with its intrinsic atypical features which becomes the challenge since it exists along a histopathologic and biologic continuum from the atypical Spitz tumor to spitzoid melanoma. Read More

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April 2018
4 Reads

Pathophysiology and management of glaucoma associated with phakomatoses.

J Neurosci Res 2018 Apr 1. Epub 2018 Apr 1.

Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois.

The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe. Glaucoma commonly affects patients with ETA (43-72%), orbito-facial NF1 (23-50%), and ODM (10%). Read More

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April 2018
2 Reads

Atypical Proliferative Nodule with Melanocytic Intraepidermal Pagetoid Spreading Arising within a Congenital Melanocytic Nevus in a Pregnant Woman.

Ann Dermatol 2018 Apr 21;30(2):234-236. Epub 2018 Feb 21.

Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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An unusual presentation of multiple congenital melanocytic nevi with a whole-body distribution.

Indian J Pathol Microbiol 2018 Jan-Mar;61(1):155-156

Department of Plastic and Reconstructive Surgery, The First Bethune Hospital of Jilin University, Changchun, China.

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Functional and aesthetic reconstruction of a large upper lip defect using combined three local flaps: A case report.

Medicine (Baltimore) 2018 Mar;97(12):e0191

Department of Plastic and Aesthetic Surgery, Peking Union Medical College Hospital, Beijing, China.

Rationale: A significant clinical issue for treating patients with large upper lip defects is how to reconstruct the lip functionally and aesthetically. Traditional methods usually lead to asymmetry of the nasal base, philtrum and the lips.

Patient Concerns: A 22-year-old lady presented with a large congenital nevus on her upper lip which involved the cutaneous, vermilion, and the philtrum. Read More

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Blue Nevi of the Ocular Surface: Clinical Characteristics, Pathologic Features, and Clinical Course.

Ophthalmology 2018 Mar 15. Epub 2018 Mar 15.

Bascom Palmer Eye Institute, University of Miami, Miami, Florida. Electronic address:

Purpose: Blue nevus is a melanocytic tumor that is commonly found in the skin. Extracutaneous presentations, including the ocular surface, are rare. As such, the purpose of this study was to characterize the clinical features and clinical course of congenital melanocytic tumor (blue nevus) of the conjunctiva. Read More

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March 2018
2 Reads

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Neurogenetics 2018 May 16;19(2):77-91. Epub 2018 Mar 16.

Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Piazza G. Cesare, 11, Bari, Italy.

Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present. Read More

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May 2018
1 Read

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

Cytogenet Genome Res 2018 16;154(2):57-61. Epub 2018 Mar 16.

Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Read More

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May 2018
2 Reads

One Step Melanoma Surgery for Patient with Thick Primary Melanomas: "To Break the Rules, You Must First Master Them!"

Authors:
Georgi Tchernev

Open Access Maced J Med Sci 2018 Feb 9;6(2):367-371. Epub 2018 Feb 9.

Medical Institute of Ministry of Interior (MVR-Sofia), Department of Dermatology, Venereology and Dermatologic Surgery, General Skobelev 79, 1606, Sofia, Bulgaria.

Background: We present to the attention of the medical, dermatological and oncosurgical community data that serves to indicate the indispensability of optimisation of the algorithm and recommendations for diagnosis and surgical treatment of cutaneous melanoma. These recommendations could be referred to different subgroups of patients in different clinical stages as well as to patients with different initial characterisation (histological morphology) of the primary tumours. One step surgery is not a myth, even more, it could prove to be one of the best solutions for some patient collectives with advanced stages of melanoma. Read More

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February 2018
2 Reads

Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature.

World Neurosurg 2018 Jun 10;114:76-83. Epub 2018 Mar 10.

Department of Neurosurgery, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China. Electronic address:

Background: To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients to help improve diagnosis and treatment of this disease, we present a rare case of an adult patient suffering from NCM with malignant melanoma, as well as a review of the relevant Chinese and English literature.

Case Description: The patient reported here plus the patients identified in our literature review total 30 adults with NCM (20 males [66.7%] and 10 females [33. Read More

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Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations.

Eur J Pediatr 2018 Mar 8. Epub 2018 Mar 8.

Department of Pediatric Surgery, University Hospital La Paz, Madrid, Spain.

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. The appearance of one large venous malformation (VM) in the neonatal period has suggested a characteristic finding of this syndrome. Read More

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March 2018
3 Reads

Giant Congenital Melanocytic Nevi: An Update and Emerging Therapies.

Case Rep Dermatol 2018 Jan-Apr;10(1):24-28. Epub 2018 Feb 8.

cDepartment of Pediatrics, Richmond University Medical Center, New York, NY, USA.

Giant congenital melanocytic nevi (GCMN) are a rare occurrence. Gain-of-function mutation in the NRAS gene is found to be associated with GCMN, causing abnormal proliferation of embryonic melanoblasts. The two major complications associated with GCMN are malignant melanoma and neurocutaneous melanosis. Read More

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February 2018
2 Reads

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

Pediatr Dermatol 2018 May 1;35(3):e186-e188. Epub 2018 Mar 1.

Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term. Read More

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Comparison of conventional color fundus photography and multicolor imaging in choroidal or retinal lesions.

Graefes Arch Clin Exp Ophthalmol 2018 Apr 28;256(4):643-649. Epub 2018 Feb 28.

Department of Ophthalmology, Jacobs Retina Center at the Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA.

Purpose: Our purpose was to compare the characteristics of the retinal and choroidal lesions including choroidal nevus, choroidal melanoma and congenital hypertrophy of the retina pigment epithelium using conventional color fundus photography (CFP) and multicolor imaging (MCI).

Methods: The paired images of patients with retinal or choroidal lesions were assessed for the visibility of lesion's border, halo and drusen using a grading scale (0-2). The area of the lesion was measured on both imaging modalities. Read More

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Small Dysplastic Congenital Melanocytic Nevi in Childhood as Possible Melanoma Imitators.

Open Access Maced J Med Sci 2018 Jan 13;6(1):149-151. Epub 2018 Jan 13.

"Onkoderma"- Policlinic for Dermatology and Dermatologic Surgery, Sofia, Bulgaria.

Small pigmented lesions in children can represent a significant diagnostic challenge. If the diagnostic features and therapeutic approach are relatively well established in large and giant nevi, there is still much controversy regarding small and intermediate-sized congenital pigmented lesions that can lead to significant diagnostic challenges, both clinically and dermoscopically, and consequently to difficulty in defining the optimal approach in such cases. Although dermoscopy can be useful in the diagnosis of pigmented lesions, the diversity of clinical and dermoscopic features of pigmented nevi in children usually hinder the differentiation between them and melanoma. Read More

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January 2018
1 Read

Medium Sized Congenital Melanocytic Nevus with Suspected Progression to Melanoma during Pregnancy: What's the Best for the Patient?

Open Access Maced J Med Sci 2018 Jan 13;6(1):143-145. Epub 2018 Jan 13.

University G. Marconi of Rome - Dermatology and Venereology, Rome, Italy.

Background: Congenital melanocytic nevi (CMN) are pigmented skin lesions usually present at birth. Rare varieties can develop and become clinically very large. Although they are benign nevomelanocytic neoplasms, all CMN may be precursors of the melanoma, regardless of their size. Read More

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January 2018

Kissing Nevus of the Penis.

J Coll Physicians Surg Pak 2018 Mar;28(3):S19-S20

Center for Clinical Studies, Houston 77004, USA.

Kissing nevus is a very rare congenital melanocytic nevus. Here, we describe one case of kissing nevus on the penis. A 15-year boy presented with asymptomatic black to dark brown color patches on his penis. Read More

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New therapies for vascular anomalies of the gastrointestinal tract.

Authors:
Victor L Fox

Minerva Pediatr 2018 Jun 23;70(3):303-307. Epub 2018 Feb 23.

Gastrointestinal Procedures and Endoscopy Unit, Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA -

Vascular anomalies are a morphologically and biologically diverse group of vascular channel abnormalities that are often congenital but may evolve or change over time in the developing child. Classification is based on a combination of physical and biological properties and clinical behavior that differentiate primarily between tumors and malformations and includes a few provisionally unclassified lesions. Anomalies of the gastrointestinal (GI) tract may present clinically with GI bleeding, abdominal pain, high-output cardiac failure, and malabsorption. Read More

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June 2018
5 Reads

Syndromic sebaceous nevus: current findings.

Int J Dermatol 2018 May 16;57(5):599-604. Epub 2018 Feb 16.

Service of Pediatric Orthopedic Plastic Surgery, Hôpital Lapeyronie, Montpellier, France.

Background: Sebaceous nevus is a congenital malformation of the skin that usually occurs on the scalp or face. Syndromic forms do rarely exist with associated cerebral and ocular malformations. The skin lesions are pale at birth and become irregular by puberty. Read More

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May 2018
3 Reads

Heat shock protein 90 inhibitor enhances apoptosis by inhibiting the AKT pathway in thermal-stimulated SK-MEL-2 human melanoma cell line.

J Dermatol Sci 2018 Jun 8;90(3):357-360. Epub 2018 Feb 8.

Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, Republic of Korea.

Background: Heat shock proteins (Hsps) are chaperone proteins, which are upregulated after various stresses. Hsp90 inhibitors have been investigated as adjuvant therapies for the treatment of melanoma. Thermal ablation could be a treatment option for surgically unresectable melanoma or congenital nevomelanocytic nevi, however, there is a limitation such as the possibility of recurrence. Read More

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June 2018
2 Reads

An institution-wide algorithm for direct-stick embolization of peripheral venous malformations.

J Vasc Surg Venous Lymphat Disord 2018 05 1;6(3):351-357. Epub 2018 Feb 1.

Division of Hematology, Department of Medicine, Cancer Institute of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.

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. Read More

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May 2018
3 Reads

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

Am J Med Genet A 2018 Mar 2;176(3):733-738. Epub 2018 Feb 2.

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed. Read More

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March 2018
4 Reads

Primary orbital melanoma: a case series and literature review.

Orbit 2018 Feb 1:1-6. Epub 2018 Feb 1.

a South Australian Institute of Ophthalmology , Royal Adelaide Hospital , Adelaide , Australia.

Primary orbital melanoma (POM) is a very rare condition. We report further four cases and review all previously reported cases. We present a multicentre retrospective review of patients with POM. Read More

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February 2018
2 Reads

Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review.

Medicine (Baltimore) 2017 Nov;96(47):e8016

Department of Pediatric Neurology, the Children's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

Rationale: Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs).

Patient Concerns: A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasms, mental retardation, skull dysplasia, ocular abnormalities, congenital atrial septal defect, and LMs. Read More

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November 2017
3 Reads

An alternative strategy treated giant congenital melanocytic nevi with epidermis and superficial dermis of the lesions.

Medicine (Baltimore) 2018 Jan;97(4):e9725

Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Giant congenital melanocytic nevi (GCMN) are defined as rare pigmented lesions that are believed to form between weeks 9 and 20 of gestation. It is difficult to reconstruct large defects after the removal of the lesions and it has posed a great challenge to the plastic surgeon and dermatologist.Given all those difficulty reconstructing the defects, we try to explore an alternative way to resurfacing the defect after removal of GCMN. Read More

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January 2018
7 Reads

Rare desmoplastic trichilemmoma associated with sebaceous nevus.

An Bras Dermatol 2017 Nov-Dec;92(6):836-837

Private Clinic - São Paulo (SP), Brazil.

Nevus sebaceous of Jadassohn is a congenital hamartoma that usually affects the scalp and face. Several benign or malignant neoplasias may develop in the lesion and the most common are trichoblastoma, syringocystadenoma papilliferum, and basal cell carcinoma. Trichilemmoma is a benign solid tumor originating from external sheath cells of pilosebaceous follicles. Read More

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April 2018
2 Reads

CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.

J Eur Acad Dermatol Venereol 2018 Jan 17. Epub 2018 Jan 17.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis.

Objectives: To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side-effects. Read More

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January 2018
1 Read

[Phakomatosis pigmentovascularis cesioflammea: a case report].

Arch Argent Pediatr 2018 Feb;116(1):e121-e124

Servicio de Dermatología, Hospital Nacional de Pediatría "Prof. Dr. J. P. Garrahan", Ciudad Autónoma de Buenos Aires.

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. Read More

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February 2018
2 Reads