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

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

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

Material 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. Dermoscopic patterns and specific features were recorded. Read More

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

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.

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

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

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

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

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.

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.

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

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

Neurogenetics 2018 Mar 16. 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

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

World Neurosurg 2018 Mar 9. Epub 2018 Mar 9.

The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital. Department of Neurosurgery, Suzhou215002, China. Electronic address:

Objective: To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients in order to help improve diagnosis and treatment of this disease.

Methods: We present a rare case of an adult patient suffering from neurocutaneous melanosis with malignant melanoma as well as a review Chinese and English literature, and analyze their clinical features.

Results: There were thirty adult NCM patients, aged 19 to 65 years old, average 27. Read More

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

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

Pediatr Dermatol 2018 Mar 1. 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

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

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

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

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

Minerva Pediatr 2018 Feb 23. Epub 2018 Feb 23.

Harvard Medical School, GI Procedure and Endoscopy Unit, Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, Massachusetts, 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 GI tract may present clinically with GI bleeding, abdominal pain, high-output cardiac failure, and malabsorption. Read More

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

J Dermatol Sci 2018 Feb 8. 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

J Vasc Surg Venous Lymphat Disord 2018 May 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

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

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

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

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

Am J Surg Pathol 2018 May;42(5):701-704

Oncodermatology.

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

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

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

Birth Defects Res 2018 03 8;110(5):443-455. Epub 2018 Jan 8.

GMGF, Aix Marseille University, INSERM, UMR_S910, Marseille, France.

Background: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. MC1R mutations affecting human skin and hair color also have pleiotropic effects on the immune response and analgesia. Variants affecting human pigmentation in utero alter the congenital phenotype of both oculocutaneous albinism and congenital melanocytic naevi, and have a possible effect on birthweight. Read More

Pigment Cell Melanoma Res 2018 May 29;31(3):437-441. Epub 2018 Jan 29.

Dermatological Group Practice, Lübeck, Germany.

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. Read More

Eur J Pediatr Surg 2018 Feb 2;28(1):105-108. Epub 2018 Jan 2.

Division of Vascular Anomalies, Department of Pediatric Surgery, La Paz Children's Hospital, Madrid, Spain.

Objective:  One of the principal objectives in treatment of facial nevus is to minimize psychological damage and encourage the child's schooling by the best possible cosmetic result. There are several therapeutic techniques: grafts, flaps, dermal regenerator, and tissue expanders.

Materials And Methods:  We reviewed 10 patients with facial nevus higher than 10 cm treated in the past 8 years. Read More

An Bras Dermatol 2017 ;92(5 Suppl 1):95-97

Department of Dermatology, Faculdade de Medicina da Universidade do Oeste Paulista (Unoeste) - Presidente Prudente - SP, Brazil.

Divided nevus, also known as kissing nevus, is a rare variant of congenital melanocytic nevi in which there are two adjacent nevi in areas of the body that undergo embryonic cleavage. The original description of this type of lesion was on the eyelid. The location on the penis is even rarer, with only 17 case reports in the literature so far, and only one of them described the dermoscopic findings. Read More

Acta Dermatovenerol Alp Pannonica Adriat 2017 Dec;26(4):119-120

Department of Dermatology, University Medical Centre, Maribor, Slovenia.

Congenital longitudinal melanonychia is rarely seen in Caucasians and poses a diagnostic dilemma. It is characterized by the presence of hyperpigmented brown or black streaks visible in the nail plate. We present the case of 20-month-old boy with congenital longitudinal melanonychia, the diagnostic procedure, and management. Read More

J Cutan Pathol 2018 Feb 17;45(2):180-183. Epub 2017 Dec 17.

Department of Anatomic Pathology, Moffitt Cancer Center, Tampa, Florida.

Nevus spilus is a melanocytic neoplasm characterized by a tan macular background punctuated by multiple hyperpigmented macules or papules that represent various types of nevi. These include junctional and compound nevi, Spitz nevi, and rarely blue nevi. We report a unique case of widespread, multiple nevi spili giving rise to agminated Spitz nevi and congenital-pattern compound nevi. Read More

Indian J Dermatol Venereol Leprol 2017 Dec 6. Epub 2017 Dec 6.

Department of Pathology, All Institute of Medical Sciences, New Delhi, India.

J Pediatr Neurosci 2017 Jul-Sep;12(3):288-290

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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. Read More

Ann Dermatol 2017 Dec 30;29(6):776-778. Epub 2017 Oct 30.

Department of Dermatology, Hallym University Sacred Heart Hospital, Anyang, Korea.

A 4-month-old infant presented with asymptomatic soft nodules on his right forearm, which had developed since birth. On the suspicion of nevus lipomatosus superficialis (NLS), biopsy was performed. Histopathologic findings showed monomorphic polygonal cells with abundant granular cytoplasm. Read More

J Artif Organs 2017 Nov 17. Epub 2017 Nov 17.

Department of Plastic and Reconstructive Surgery, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, 573-1010, Japan.

In Japan, the JACE cultured epidermal autograft (CEA) was approved and covered by public healthcare insurance for use in the treatment of giant congenital melanocytic nevus (GCMN) in 2016. We herein report the results of the application of JACE after curettage and Q-switched ruby laser therapy. The current patient was the first patient with GCMN to be treated with JACE since its approval. Read More

J Invest Dermatol 2018 Apr 11;138(4):893-902. Epub 2017 Nov 11.

Drug Discovery Group, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia. Electronic address:

Giant congenital nevi are associated with clinical complications such as neurocutaneous melanosis and melanoma. Virtually nothing is known about why some individuals develop these lesions. We previously identified the sonic hedgehog (Shh) pathway regulator Cdon as a candidate nevus modifier gene. Read More

Lasers Surg Med 2018 Jan 13;50(1):56-60. Epub 2017 Nov 13.

Laser & Skin Surgery Center of New York, 317 East 34th Street, New York, New York, 10016.

Objective: Nevus of Ota represents congenital dermal melanocytosis in a trigeminal distribution, most commonly occurring in Asian individuals and other individuals with skin of color. Evidence suggests early treatment is beneficial. Multiple reports have shown efficacy and safety of Q-switched laser treatment in adults. Read More

Case Rep Dermatol 2017 Sep-Dec;9(3):184-189. Epub 2017 Oct 4.

Sector of Dermatology and Post-Graduation Course, University Hospital and School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Nevus comedonicus is a rare cutaneous anomaly, characterized by the clustering of papules with firm, blackened horny buffers. It in general has a zosteriform pattern and affects both genders equally. In some patients, there is formation of cysts, abscesses, and fistulas, aggravating its psychosocial impact. Read More