3,147 results match your criteria Congenital Nevi


Sparing of the nipple-areola complex by capillary malformations: Vascular variant of the Bork-Baykal phenomenon.

Pediatr Dermatol 2019 Apr 15. Epub 2019 Apr 15.

Department of Dermatology, University Children's Hospital Niño Jesús, Madrid, Spain.

The"Bork-Baykal phenomenon" refers to the sparing of the nipple-areola complex in large congenital melanocytic nevi involving the breast. So far, this finding has not been reported in vascular anomalies. We present four patients with an extensive capillary malformation (CM) involving the breast that was found to exhibit a similar sparing of the nipple and areola. Read More

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http://dx.doi.org/10.1111/pde.13844DOI Listing

Congenital Bathing Trunk Nevus with Meningomyelocele.

Indian Dermatol Online J 2019 Mar-Apr;10(2):186-187

Department of Pediatrics, PGIMER, Chandigarh, India.

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http://dx.doi.org/10.4103/idoj.IDOJ_256_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434768PMC
April 2019
1 Read

Cosmetically Challenging Congenital Melanocytic Nevi.

Ann Plast Surg 2019 May;82(5S Suppl 4):S306-S309

Division of Plastic and Reconstructive Surgery, Cedar-Sinai, Los Angeles, CA.

Background: Congenital melanocytic nevi (CMN) have a 1% to 5% lifetime risk for malignant transformation, with 50% of transformations occurring before the age of 5 years.The aim of this study is to assess the risk of melanoma development in pediatric patients with facial CMN involving the eyebrows, eyelid margins, and nasal alae where a margin of CMN was not excised to preserve these structures.

Methods: A retrospective chart review of all pediatric patients with CMN from 1986 to 2014 was performed to review demographic information, diagnosis, and number of surgeries. Read More

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http://dx.doi.org/10.1097/SAP.0000000000001766DOI Listing

Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion.

Pigment Cell Melanoma Res 2019 Apr 4. Epub 2019 Apr 4.

Department of Biopathology, Centre Léon Bérard, Lyon, France.

A girl, born with a posterior  lumbosacral giant congenital nevus, developed a central nodule that expanded over a period of 14 months into a 10-cm pedunculated mass. Histological analysis of the mass revealed melanoma of myxoid, small round-cell type with areas of  rhabdomyosarcomatous  transformation confirmed by immunohistochemistry. RNA sequencing identified an in-frame SASS6(e14)-RAF1(e8) fusion in both components and the nevus. Read More

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http://dx.doi.org/10.1111/pcmr.12785DOI Listing
April 2019
1 Read

Staged Mosaic Punching Excision of a Kissing Nevus on the Eyelid.

Aesthetic Plast Surg 2019 Apr 1. Epub 2019 Apr 1.

Department of Plastic and Reconstructive Surgery, Hanyang University Seoul Hospital, Hanyang University College of Medicine, Seoul, South Korea.

Background: A congenital divided nevus, also known as kissing nevus, is a type of congenital compound nevus that affects equal areas of the upper and lower eyelids. The edges of the nevus touch or "kiss" during closure of the lids, owing to its extension to the lid margins. Multiple treatment modalities, such as dermabrasion, cryotherapy, primary closure after excision, and skin grafts, have been proposed; however, complications such as recurrence, ectropion, skin color mismatch, and scar contractures are known to occur. Read More

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http://dx.doi.org/10.1007/s00266-019-01362-0DOI Listing
April 2019
10 Reads

Predictors of Health-related Quality of Life and Psychological Adjustment in Children and Adolescents With Congenital Melanocytic Nevi: Analysis of Parent Reports.

J Pediatr Psychol 2019 Mar 26. Epub 2019 Mar 26.

Department of Psychosomatics and Psychiatry, and Children's Research Center, University Children's Hospital.

Objectives: This cross-sectional study assessed health-related quality of life (HRQOL) and psychological adjustment in children and adolescents affected by congenital melanocytic nevi (CMN) and identified potential predictors of adjustment.

Methods: Participants were recruited worldwide with the help of patient organizations. Data were obtained from parents of 235 children affected by CMN, aged between 1 month and 18 years (M = 6. Read More

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http://dx.doi.org/10.1093/jpepsy/jsz017DOI Listing
March 2019
1 Read

Large-Giant Congenital Melanocytic Nevi: Moving Beyond NRAS Mutations.

Authors:
Mitchell S Stark

J Invest Dermatol 2019 Apr;139(4):756-759

Dermatology Research Centre, The University of Queensland, The University of Queensland Diamantina Institute, Brisbane, Queensland, Australia. Electronic address:

Large-giant congenital melanocytic nevi have been well characterized clinically, yet questions remain about the heterogenous phenotypes observed. Martins da Silva et al. (2018) highlight the genotypic diversity between "classic" and "spilus-like" congenital melanocytic nevi by analyzing multiple biopsy sites and matching satellite nevi. Read More

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http://dx.doi.org/10.1016/j.jid.2018.10.003DOI Listing

Hyperprogression in Pediatric Melanoma Metastatic to the Breast Treated with a Checkpoint Inhibitor.

Cureus 2019 Jan 9;11(1):e3859. Epub 2019 Jan 9.

Oncology, Instituto Nacional De Cancerologia, Bogotá, COL.

Metastatic melanomas in the pediatric population are rare, but they have been appearing more frequently. Unfortunately, little is known about the differences in the biology and therapeutic implications of pediatric metastatic melanomas when compared to those found in adults. Herein, we have presented the case of a 13-year-old girl with a stage IIID malignant melanoma arising from a congenital nevus. Read More

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https://www.cureus.com/articles/16504-hyperprogression-in-pe
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http://dx.doi.org/10.7759/cureus.3859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414191PMC
January 2019
9 Reads

Less Is More in Congenital and Pediatric Nasal Lesions.

J Craniofac Surg 2019 Mar 16. Epub 2019 Mar 16.

Division of Plastic and Reconstructive Surgery, Keck School of Medicine, University of Southern California.

Congenital and pediatric nasal lesion resection and their reconstructive outcomes are not well studied. A surgeon must consider the site, size, depth, etiology, age, and effect on future function (including growth). As such, it is important to contrast the differences between the adult's and child's nose. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005442DOI Listing

Malignant transformation of neurocutaneous melanosis (NCM) following immunosuppression.

Pediatr Dermatol 2019 Mar 13. Epub 2019 Mar 13.

Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York City, New York.

Neurocutaneous melanosis (NCM) is the condition of abnormal melanocyte deposition in the leptomeninges and brain parenchyma. Associated with congenital melanocytic nevi, NCM can result in neurologic deficits, hydrocephalus, and rarely, malignant transformation of cells. We present the case of a 16-year-old boy with NCM who developed malignant leptomeningeal melanoma following immunosuppression with a TNFα inhibitor. Read More

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http://dx.doi.org/10.1111/pde.13804DOI Listing
March 2019
4 Reads

What's New in Genetic Skin Diseases.

Dermatol Clin 2019 Apr;37(2):229-239

Department of Dermatology, University of Alabama at Birmingham, 1940 Elmer J. Bissell Road, Birmingham, AL 35243, USA. Electronic address:

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care. Read More

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http://dx.doi.org/10.1016/j.det.2018.11.004DOI Listing
April 2019
1 Read

Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies.

Radiographics 2019 Mar-Apr;39(2):491-515

From the Divisions of Pediatric Radiology (F.B., K.A.B., C.M.H., A.E.G., S.S.M.) and Interventional Radiology and Image Guided Medicine (F.B., C.M.H., A.E.G.), Department of Radiology and Imaging Sciences; and Department of Hematology and Medical Oncology (M.A.B.), Emory University School of Medicine, 1364 Clifton Rd NE, Suite D112, Atlanta, GA 30322; and Vascular Anomalies Clinic (F.B., K.A.B., C.M.H., A.E.G., M.A.B., R.S., S.S.M.) and Aflac Cancer and Blood Disorders Center (M.A.B.), Children's Healthcare of Atlanta, Atlanta, Ga.

Congenital limb length discrepancy disorders are frequently associated with a variety of vascular anomalies and have unique genetic and phenotypic features. Many of these syndromes have been linked to sporadic somatic mosaicism involving mutations of the phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway, which has an important role in tissue growth and angiogenesis. Radiologists who are aware of congenital limb length discrepancies can make specific diagnoses based on imaging findings. Read More

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http://dx.doi.org/10.1148/rg.2019180136DOI Listing
March 2019
5 Reads
2.602 Impact Factor

Evolution of congenital melanocytic nevi toward benignity: A case series.

Pediatr Dermatol 2019 Mar 6;36(2):227-231. Epub 2019 Mar 6.

Division of Dermatology, University of Arizona College of Medicine, Tucson, Arizona.

We report on four children born with medium to large congenital melanocytic nevi (CMN) with color heterogeneity and irregular surface rugosity. As these patients aged, their nevi evolved to become more homogeneous and lighter in color, and developed a smoother, more even texture. We propose that given this evolution toward benignity, conservative monitoring and management may be appropriate even in the context of atypical-appearing features at birth. Read More

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http://dx.doi.org/10.1111/pde.13745DOI Listing
March 2019
1 Read

Combination laser therapy as a non-surgical method for treating congenital melanocytic nevi from cosmetically sensitive locations on the body.

Lasers Med Sci 2019 Feb 28. Epub 2019 Feb 28.

Department of Plastic and Reconstructive Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita-15, Nishi-7, Kita-ku, Sapporo, 060-8638, Japan.

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http://dx.doi.org/10.1007/s10103-019-02753-0DOI Listing
February 2019
1 Read

Medallion-like dermal dendrocyte hamartoma: A rare congenital CD34-positive dermal lesion clinically and pathologically overlapping with fibroblastic connective tissue nevus.

Pediatr Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Plastic and Reconstructive Surgery, Teikyo University Chiba Medical Center, Ichihara-shi, Chiba, Japan.

Both medallion-like dermal dendrocyte hamartoma and fibroblastic connective tissue nevus are rare benign dermal lesions composed of CD34-positive spindle cells. Although regarded as different diseases, it is sometimes difficult to distinguish between them due to their clinical and pathological similarities. We present a case of medallion-like dermal dendrocyte hamartoma that could also be diagnosed as fibroblastic connective tissue nevus and propose the possibility of overlap in these diseases. Read More

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http://dx.doi.org/10.1111/pde.13766DOI Listing
February 2019
2 Reads

Nevus depigmentosus: review of a mark of distinction.

Int J Dermatol 2019 Feb 22. Epub 2019 Feb 22.

Dermatology, Pediatric Medicine, and Pathology, Rutgers New Jersey Medical School, Newark, NJ, USA.

Nevus depigmentosus (ND), also known as nevus achromicus or achromic nevus, is an uncommon congenital hypomelanosis of the skin that is often characterized as being nonprogressive and having serrated borders. It needs to be distinguished from other hypopigmented skin conditions such as nevus anemicus, hypomelanosis of Ito, Fitzpatrick patches (ash leaf spots) of tuberous sclerosis, vitiligo, indeterminate leprosy, and pigment demarcation lines. Treatment may be desired for aesthetic and possible psychosocial considerations. Read More

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http://dx.doi.org/10.1111/ijd.14393DOI Listing
February 2019
4 Reads

Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report.

Neuroradiol J 2019 Feb 22:1971400919832474. Epub 2019 Feb 22.

2 Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, India.

Giant congenital melanocytic nevus (GCMN) is associated with neurocutaneous melanocytosis and various other neurological complications. Its association with migrational anomalies of the brain is extremely rare. Herein, we document the first case of GCMN in a one-day-old baby associated with localized hemimegalencephaly (HME) of the brain with extensive malformation of cortical development including polymicrogyria, pachygyria and sublobar dysplasia, limited to an enlarged quadrant of the brain. Read More

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http://dx.doi.org/10.1177/1971400919832474DOI Listing
February 2019
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Neurocutaneous Melanosis in Association With Large Congenital Melanocytic Nevi in Children: A Report of 2 Cases With Clinical, Radiological, and Pathogenetic Evaluation.

Front Neurol 2019 7;10:79. Epub 2019 Feb 7.

Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

Melanocytic nevi present at birth, or within the first few months of life, are defined as congenital melanocytic nevi (CMN). Neurocutaneous melanosis (NCM) is a rare disorder, represents pigment cell tumors of the leptomeninges, and occurs in association with large or multiple CMN. NCM carries an extremely poor prognosis. Read More

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http://dx.doi.org/10.3389/fneur.2019.00079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374324PMC
February 2019
3 Reads

Giant Congenital Melanocytic Nevus Treated With Trametinib.

Pediatrics 2019 Mar;143(3)

Division of Pediatric Hematology and Oncology, University of Texas Southwestern Medical Center, Dallas, Texas

Giant congenital nevi are melanocytic proliferations of the skin that may be complicated by melanoma, neurocutaneous melanocytosis, pain, pruritus, and disfigurement. Current treatment options include surgical resection and medical management of associated symptoms. There is limited efficacy in these modalities. Read More

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http://dx.doi.org/10.1542/peds.2018-2469DOI Listing
March 2019
2 Reads

Isolated straight hair nevus in a White child.

Pediatr Dermatol 2019 Mar 21;36(2):260-261. Epub 2019 Feb 21.

Department of Dermatology and Pediatric Dermatology, National Reference Center for Rare Skin Diseases, INSERM U 1035, University of Bordeaux, Bordeaux, France.

We report a 6-month-old girl born with a fronto-parietal patch of hair straighter than the remainder of the scalp hairs. We took a biopsy to rule out a congenital melanocytic nevus. We concluded after additional scanning electron microscopy study of the hair shafts that the lesion corresponds to a possible local mosaicism causing an isolated straight hair nevus phenotype. Read More

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http://dx.doi.org/10.1111/pde.13740DOI Listing
March 2019
2 Reads

Melanoma arising in a Giant congenital melanocytic nevus: two case reports.

Diagn Pathol 2019 Feb 19;14(1):21. Epub 2019 Feb 19.

Federal State Budgetary Institution, "N.N. Blokhin Medical Research Center of Oncology" of the Ministry of Health of the Russian Federation, 115478 Kashirskoye shosse, 24, Moscow, Russian Federation.

Background: A giant congenital melanocytic nevus (GCMN) is found in 0.1% of live-born infants. If present, the lesion has a chance of about 6% to develop into malignant melanoma. Read More

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http://dx.doi.org/10.1186/s13000-019-0797-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381634PMC
February 2019
3 Reads

Molecular Genomic Profiling of Melanocytic Nevi.

J Invest Dermatol 2019 Feb 14. Epub 2019 Feb 14.

Melanoma Institute Australia, The University of Sydney, New South Wales, Australia; Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.

The benign melanocytic nevus is the most common tumor in humans and rarely transforms into cutaneous melanoma. Elucidation of the nevus genome is required to better understand the molecular steps of progression to melanoma. We performed whole genome sequencing on a series of 14 benign melanocytic nevi consisting of both congenital and acquired types. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X193011
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http://dx.doi.org/10.1016/j.jid.2018.12.033DOI Listing
February 2019
19 Reads

Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.

Pediatr Dermatol 2019 Mar 14;36(2):242-246. Epub 2019 Feb 14.

Department of Dermatology, CHU Nantes, Nantes, France.

Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations. We here report regarding five new patients with HCH who exhibited AN, and we compare their characteristics to the eight patients previously described in the literature. In these patients, the AN lesions began in childhood, and they were extensive. Read More

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http://dx.doi.org/10.1111/pde.13748DOI Listing
March 2019
1 Read

Serial Excision for the Treatment of Giant Congenital Melanocytic Nevus: The Vietnamese Way.

Open Access Maced J Med Sci 2019 Jan 26;7(2):231-233. Epub 2019 Jan 26.

University of Rome G. Marconi, Rome, Italy.

Aim: To investigate the efficacy of plastic surgery in the treatment of giant congenital melanocytic nevus (GCMN).

Methods: We enrolled 20 patients with 44 lesions and performed one of the following procedures: serial excision, skin grafting, tissue expansion, primary skin closure, distant flap, and adjacent flap. We assessed the outcome at 10 days and 6 months after surgery. Read More

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http://dx.doi.org/10.3889/oamjms.2019.058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364729PMC
January 2019

A cellular blue nevus with pigmented epithelioid melanocytoma-like pattern on the ipsilateral upper arm associated with a congenital plaque-type blue nevus on the hand.

J Cutan Pathol 2019 May 28;46(5):383-388. Epub 2019 Mar 28.

Department of Dermatology, Chonnam National University Medical School, Gwangju, Korea.

A 36-year-old man presented with a subcutaneous nodule on the right upper arm. A small nodule had developed 8 years earlier, and grew in size, accompanied by a tingling sensation and numbness. In addition, he had a bluish irregular patch on the right hand since birth, which crossed from the palm to the dorsal hand. Read More

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http://dx.doi.org/10.1111/cup.13435DOI Listing
May 2019
2 Reads

Pluripotency markers are differentially induced by IGF1 and bFGF in cells from patients' lesions of large/giant congenital melanocytic nevi.

Biomark Res 2019 14;7. Epub 2019 Jan 14.

Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA 15224 USA.

Factors regulating transcription of pluripotency genes in congenital nevo-melanocytes are not known. Nevo-melanocytes belong somewhere in-between the ends of a spectrum where the normal epidermal melanocyte represents one end and a melanoma cell with multiple genetic abnormalities represents the other. Cells from large/giant congenital nevi (L/GCMN), unlike normal melanocytes, grow colonies on soft agar and express pluripotency markers, similar to melanoma cells. Read More

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http://dx.doi.org/10.1186/s40364-018-0152-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332894PMC
January 2019
9 Reads

Congenital nevi with hypomelanosis and fine scales.

Eur J Dermatol 2019 Feb;29(1):45-48

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo.

Background: Nevus is a hamartoma or malformation of one or more skin components, resulting in aberrant differentiation of the cell lineage(s) mostly during developmental stages. Although multiple lineages may be involved in a nevus, the combination of melanocyte and keratinocyte abnormalities has been rarely discussed.

Objectives: To present two cases of congenital nevi with hypomelanosis and superficial fine scales. Read More

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http://dx.doi.org/10.1684/ejd.2018.3496DOI Listing
February 2019
1 Read

Overgrowth syndrome in neonates: a rare case series with a review of the literature.

BMJ Case Rep 2019 Jan 17;12(1). Epub 2019 Jan 17.

Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

We present here two-term neonates presenting with right lower limb hypertrophy, a port-wine stain, acral abnormalities and clubfeet. These neonates had overlapping features of Klippel Trenaunay syndrome and congenital lipomatous overgrowth, vascular malformation, epidermal nevi and scoliosis/skeletal abnormalities. Such overgrowth syndrome has not been previously described in the literature. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22564
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http://dx.doi.org/10.1136/bcr-2018-225640DOI Listing
January 2019
4 Reads

Effect of Size and Location of Nevi on Postoperative Pain and Emergence Agitation in Children Undergoing Nevi Excision.

J Clin Med 2019 Jan 17;8(1). Epub 2019 Jan 17.

Department of Anesthesiology and Pain Medicine, Ajou University School of Medicine, Suwon 164, Korea.

Congenital melanocytic nevi need surgical excisions. However, the effect of the size and location of the nevi on pain and emergence agitation have yet to be studied. The objective of this study was to evaluate (1) the ideal parameter of the nevus size and (2) the effects of the size and location of the nevus on pain and emergence agitation. Read More

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http://www.mdpi.com/2077-0383/8/1/106
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http://dx.doi.org/10.3390/jcm8010106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352197PMC
January 2019
6 Reads

Common Neonatal Skin Lesions: Melanocytic Nevi, Pigment Alterations, and Nonmelanocytic Nevi.

Pediatr Ann 2019 Jan;48(1):e23-e29

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. Read More

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http://dx.doi.org/10.3928/19382359-20181207-01DOI Listing
January 2019

Connexin43 mutations linked to skin disease have augmented hemichannel activity.

Sci Rep 2019 Jan 10;9(1):19. Epub 2019 Jan 10.

Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY, 11794, USA.

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. Read More

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http://www.nature.com/articles/s41598-018-37221-2
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http://dx.doi.org/10.1038/s41598-018-37221-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328547PMC
January 2019
14 Reads

Coccygeal Polypoid Eccrine Nevus.

Arch Pathol Lab Med 2018 Dec 28. Epub 2018 Dec 28.

From the Department of Pathology (Dr Charifa) and the Department of Dermatology (Dr Ko), Yale School of Medicine, New Haven, Connecticut.

Skin tags are fairly common lesions usually seen in adults on the neck and in body folds. The sacrococcygeal region is an unusual location for skin tags in children and may represent a congenital malformation of the spine or an isolated skin lesion. In this review, we summarize the clinical presentation, histopathologic changes, and differential diagnosis of coccygeal polypoid eccrine nevus as a rare cause of sacrococcygeal papules in children. Read More

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http://dx.doi.org/10.5858/arpa.2018-0055-RSDOI Listing
December 2018
2.838 Impact Factor

Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.

JAMA Dermatol 2019 Feb;155(2):211-215

Department of Dermatology, Massachusetts General Hospital, Boston.

Importance: Shared gene variants in benign-malignant process pairs, such as BRAF mutations common to benign nevi and melanoma, are associated with differing phenotypic manifestations. Study of gene mechanisms underlying cherry angioma may uncover previously unknown disease relationships.

Objective: To identify somatic mutations present in cherry angioma specimens by using targeted next-generation sequencing. Read More

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamadermatol.2018.4231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440195PMC
February 2019
30 Reads

Orbital Hemangioma in Bean Syndrome: The Lure of the Red Herring.

World Neurosurg 2019 Mar 18;123:272-280. Epub 2018 Dec 18.

Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Background: Bean syndrome (BS) is a rare congenital low-flow angiomatosis affecting multiple organ systems. About 200 cases with heterogeneous clinical presentation have been reported worldwide. The exact etiopathology is still not known. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.11.257DOI Listing
March 2019
1 Read
2.417 Impact Factor

Lethal melanoma in a two-year-old child with multiple congenital melanocytic nevi.

Indian J Dermatol Venereol Leprol 2019 Jan-Feb;85(1):89-93

Department of Dermatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan, Shandong, China.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_938_17DOI Listing
April 2019
3 Reads

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Pigment Cell Melanoma Res 2019 05 21;32(3):470-473. Epub 2018 Dec 21.

Institute of Human Genetics, University Hospital Otto-von-Guericke-University, Magdeburg, Germany.

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http://dx.doi.org/10.1111/pcmr.12761DOI Listing
May 2019
2 Reads

Giant congenital facial melanocytic nevus.

Oman J Ophthalmol 2018 Sep-Dec;11(3):265-266

Dr. R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Giant Congenital Melanocytic Nevus (GCMNs) is mostly reported in area of trunk followed by limbs and head. Their incidence is <1:20,000 newborns It derives attention due to its association with malignant melanoma.The risk of developing malignant melanoma is between 5 to 10%. Read More

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http://dx.doi.org/10.4103/ojo.OJO_216_2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219340PMC
December 2018
15 Reads

Spontaneous Regression of Large Congenital Melanocytic Nevi, With a Halo Rim in 17 Children With Large Scalp and Trunk Nevi During 45 Years: A Review of the Literature.

Clin Pediatr (Phila) 2018 Dec 3:9922818816421. Epub 2018 Dec 3.

1 University of Miami, Miami, FL, USA.

Background: Prior reports on large congenital melanocytic nevi (LCMN) do not provide a clear management approach to physicians to advise parents or patients. Whether the presence of a halo around the nevus can guide management has not been fully explored.

Design: Children born with an LCMN were observed without active intervention. Read More

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http://dx.doi.org/10.1177/0009922818816421DOI Listing
December 2018
3 Reads

Spontaneous Regression of Medium-Sized Congenital Melanocytic Nevi: Report of 3 New Cases.

Actas Dermosifiliogr 2018 Oct 25. Epub 2018 Oct 25.

Centro Integral de Dermatología, Tucumán, Argentina.

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http://dx.doi.org/10.1016/j.ad.2018.03.023DOI Listing
October 2018
2 Reads

Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.

Vet Dermatol 2019 Feb 25;30(1):64-e18. Epub 2018 Nov 25.

Institute of Genetics, Vetsuisse Faculty, University of Bern, Länggassstrasse 120, 3001, Bern, Switzerland.

Background: The feline counterpart of human inflammatory linear verrucous epidermal nevus (ILVEN) has been described; however, the possible underlying developmental defect has not been investigated.

Objective: To report a case of multiple ILVEN-like lesions in a cat with a genetic variant in the NSDHL gene.

Animals: A 2-year-old, female, domestic short hair cat with a history of multiple alopecic, verrucous, hyperpigmented and erythematous skin lesions, following Blaschko's lines on the head, the limbs, the trunk and paw pads. Read More

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http://dx.doi.org/10.1111/vde.12699DOI Listing
February 2019
13 Reads

Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins.

J Curr Glaucoma Pract 2018 May-Aug;12(2):94-98. Epub 2018 Aug 1.

Senior Resident, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

Aim: To report a case of bilateral phacomatosis pigmentovascularis (PPV), in a young male,presenting with developmental glaucoma and high myopia along with systemic features of klippel trenanauy weber (KTW) syndrome.

Background: The co-existence of oculodermal melanocytosis (ODM)and port-wine stain was termed PPV by Ota. Port-wine stain presents as part of Sturge-Weber syndrome (SWS). Read More

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http://www.jaypeejournals.com/eJournals/ShowText.aspx?ID=147
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http://dx.doi.org/10.5005/jp-journals-10008-1251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236123PMC
August 2018
15 Reads

Proliferating Neurocristic Hamartoma Arising in a Giant Congenital Nevus: Comparative Genomic Hybridization Findings.

Am J Dermatopathol 2018 Nov 15. Epub 2018 Nov 15.

Deramatology, Hospital Universitario 12 de Octubre, Universidad Complutense, Instituto de Investigación I+12, Madrid, Spain.

Neurocristic cutaneous hamartomas (NCHs) are rarely reported tumors with divergent differentiation derived from persistently active pluripotent cells from the neural crest. They result from aberrant development of the neuromesenchyme, and they can express fibrogenic, melanocytic, and/or neurosustentacular differentiation. Thus, congenital melanocytic nevus also represents a neurocristic dysplasia of the skin in which cells are melanogenic cells arrested in development located in the reticular dermis, and nodular proliferative neurocristic hamartoma may arise within a congenital melanocytic nevus. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001319DOI Listing
November 2018
1 Read

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears.

JAAD Case Rep 2018 Nov 9;4(10):1010-1013. Epub 2018 Nov 9.

Department of Dermatology, the University of California, Irvine, California.

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http://dx.doi.org/10.1016/j.jdcr.2018.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232698PMC
November 2018
7 Reads

Functional Subunit Reconstruction of Giant Facial Congenital Melanocytic Nevi in Children With the Use of Matriderm and Skin Graft: Surgical Experience and Literature Review.

Eplasty 2018 5;18:e30. Epub 2018 Oct 5.

Plastic and Reconstructive Surgery Section, Department of Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Facial giant congenital melanocytic nevus represents a major cosmetic deformity for the child and parents and is a challenge for the plastic surgeons to achieve best cosmetic results. Herein, we present a case of single-stage surgical reconstruction using partial-thickness scalp skin graft aided with Matriderm dermal substitute for a facial giant congenital melanocytic nevus. An 8-year-old boy presented with a facial giant congenital melanocytic nevus without leptomeningeal involvement. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232950PMC
October 2018
23 Reads

Neurocutaneous Melanosis with Leptomeningeal Melanoma Involving Supratentorium and Infratentorium.

Cureus 2018 Sep 10;10(9):e3275. Epub 2018 Sep 10.

Radiotherapy, Christian Medical College, Vellore, IND.

Neurocutaneous melanoma is a rare congenital syndrome associated with congenital melanocytic nevi with meningeal melanosis or melanoma. The disease is aggressive and has a high propensity for leptomeningeal metastases. We present the case history of a man with neurocutaneous melanoma managed with radical excision followed by hypofractionated adjuvant radiotherapy. Read More

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http://dx.doi.org/10.7759/cureus.3275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235644PMC
September 2018
5 Reads

Concurrent Congenital Fibrolipomatous Hamartoma and Congenital Nevus of Infancy: A Syndromic or Chance Association.

J Indian Assoc Pediatr Surg 2018 Oct-Dec;23(4):219-221

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

Congenital nevi and fibrolipomatous hamartoma are benign tumors of childhood, the latter being very uncommon. Fibrous hamartoma of infancy typically occurs in <2 years of life. The concurrence of these two lesions is extremely rare. Read More

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http://dx.doi.org/10.4103/jiaps.JIAPS_163_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182949PMC
November 2018
4 Reads

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.

J Hum Genet 2019 Feb 16;64(2):177-181. Epub 2018 Nov 16.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

Schimmelpenning syndrome is a rare neurocutaneous disorder categorized as a mosaic RASopathy due to postzygotic HRAS or KRAS mutations. We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. The patient had three atypical symptoms of Schimmelpenning syndrome: renovascular hypertension, congenital lipomatosis, and diabetes mellitus. Read More

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http://dx.doi.org/10.1038/s10038-018-0539-3DOI Listing
February 2019
3 Reads