859 results match your criteria Epidermal Nevus Syndrome


[Analysis of causes of death and etiological characteristics of skin tissue donors].

Zhonghua Shao Shang Za Zhi 2020 Jun;36(6):446-450

Institute of Burns, Tongren Hospital of Wuhan University & Wuhan Third Hospital, Wuhan Remains (Organs) Donation Registration and Skin Receiving Station, Wuhan 430060, China.

To investigate the causes of death and etiological characteristics of skin tissue donors, and to provide reference for allogeneic skin transplantation. From October 2008 to October 2018, 49 skin tissue donors accepted by the Burn Department of Wuhan Third Hospital met the inclusion criteria of this study, and a cross-sectional study was conducted. According to the cause of death, the donors were divided into accidental death group (19 cases) and non-accidental death group (30 cases). Read More

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http://dx.doi.org/10.3760/cma.j.cn501120-20190307-00085DOI Listing

New Therapies for Hypophosphatemia-Related to FGF23 Excess.

Calcif Tissue Int 2020 Jun 5. Epub 2020 Jun 5.

Department of Medicine Section of Endocrinology, Yale School of Medicine, PO Box 802080, New Haven, CT, 06520, USA.

FGF23 is a hormone produced by osteocytes in response to an elevation in the concentration of extracellular phosphate. Excess production of FGF23 by bone cells, or rarely by tumors, is the hormonal basis for several musculoskeletal syndromes characterized by hypophosphatemia due to renal phosphate wasting. FGF23-dependent chronic hypophosphatemia causes rickets and osteomalacia, as well as other skeletal complications. Read More

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http://dx.doi.org/10.1007/s00223-020-00705-3DOI Listing

Nevus sebaceus with syringocystadenoma papilliferum, prurigo nodularis, apocrine cystadenoma, basaloid follicular proliferation, and sebaceoma: case report and review of nevus sebaceus-associated conditions.

Dermatol Online J 2020 Feb 15;26(2). Epub 2020 Feb 15.

School of Medicine, University of California San Diego, La Jolla, CA.

Nevus sebaceus is a benign skin hamartoma of congenital onset that grows during puberty, and in adulthood can develop secondary benign and malignant neoplasms. The most common benign neoplasms occurring in nevus sebaceus are believed to be syringocystadenoma papilliferum, trichilemmoma, and trichoblastoma. A patient with nevus sebaceus developed not only syringocystadenoma papilliferum but also prurigo nodularis within her hamartomatous lesion; multiple biopsies were necessary to establish the diagnoses. Read More

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February 2020

[Nevus Sebaceous of Jadassohn in the Newborn].

Acta Med Port 2020 Apr 1;33(4):288. Epub 2020 Apr 1.

Serviço de Neonatologia. Hospital Pedro Hispano. Porto. Portugal.

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http://dx.doi.org/10.20344/amp.12164DOI Listing

Lichen Planopilaris Developing at the Margins of a Sebaceous Nevus of Jadassohn: Co-existence or Etiologic Association?

Indian J Dermatol 2020 Mar-Apr;65(2):136-138

Department of Pathology, National and Kapodistrian University of Athens Medical School, "Attikon" University General Hospital, Athens, Greece.

Sebaceous nevus (SN), is a skin hamartoma, combining a variety of epidermal, follicular, sebaceous, and apocrine abnormalities. Although usually present at birth, it may become apparent later in life appearing as a yellowish-brown, verrucous plaque with alopecia. SN is implicated with secondary tumors arising on the hairless plaque during the adulthood. Read More

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http://dx.doi.org/10.4103/ijd.IJD_122_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059478PMC

Linear verrucous epidermal nevus with oral manifestations: report of two cases.

Dermatol Online J 2020 Jan 15;26(1). Epub 2020 Jan 15.

Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba.

Linear verrucous epidermal nevi (LVEN) are characterized by verrucous papules often coalescing into well-demarcated skin-colored or brown plaques following the lines of Blaschko. We present two new cases of LVEN with oral mucosa involvement and briefly discuss this very rare finding. In both cases, oral biopsies showed hyperkeratosis, acanthosis, and papillomatosis. Read More

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January 2020

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.

Am J Med Genet A 2020 04 21;182(4):746-754. Epub 2020 Jan 21.

Division of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Nevus comedonicus syndrome (NCS) is a rare epidermal nevus syndrome characterized by ocular, skeletal, and central nervous system anomalies. We present a 23-month-old boy with a history of a congenital pulmonary airway malformation (CPAM) of the lung and a congenital cataract who developed progressive linear and curvilinear plaques of dilated follicular openings with keratin plugs (comedones) on parts of his scalp, face, and body consistent with nevus comedonicus. MRI of the brain demonstrated an aneurysm of the right internal carotid artery. Read More

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http://dx.doi.org/10.1002/ajmg.a.61490DOI Listing

The color of skin: gray diseases of the skin, nails, and mucosa.

Clin Dermatol 2019 Sep - Oct;37(5):507-515. Epub 2019 Jul 31.

Department of Dermatology, Andrology and STIs, Ain Shams University Hospital, Cairo, Egypt. Electronic address:

Gray diseases are a group of skin disorders characterized mainly by gray discoloration with or without involving the mucous membranes and nails. These diseases may be hereditary or acquired. Some of the better-known hereditary entities are dermal melanocytosis, incontinentia pigmenti, hypomelanosis of Ito, hemochromatosis, ochronosis, and silvery hair syndrome. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2019.07.011DOI Listing

Phacomatosis pigmentokeratotica without extracutaneous abnormalities: 12-year follow-up.

JAAD Case Rep 2019 Dec 21;5(12):1055-1057. Epub 2019 Nov 21.

Department of Dermatology, University of Iowa Hospitals and Clinics, Iowa City, Iowa.

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http://dx.doi.org/10.1016/j.jdcr.2019.07.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880094PMC
December 2019

Linear Verrucous Epidermal Nevus.

Indian Pediatr 2019 11;56(11):981

Department of Neonatology-MRH, Super Speciality Pediatric Hospital and Postgraduate Teaching Institute, Noida, Uttar Pradesh, India.

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November 2019

Sebaceous Nevus of the Scalp.

J Craniofac Surg 2020 Jan/Feb;31(1):257-260

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

Excisions of scalp nevus sebaceous (NS) presents a unique challenge due to limited soft tissue laxity, hair-bearing skin, and convex surfaces which often leave the surgeon and patient underwhelmed with the reconstructive outcome. In this study, the authors conducted an institutional review board-approved retrospective review of patients who underwent excision of pathologically proven scalp primary NS from 2003 to 2017 at our institution to better define the reconstructive outcomes and options for treatment of pediatric scalp NS. 92 patients were included in the study, 54 males (58. Read More

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http://dx.doi.org/10.1097/SCS.0000000000006007DOI Listing

Epibulbar complex choristoma with simultaneous involvement of eyelid: a case report.

BMC Ophthalmol 2019 Nov 12;19(1):223. Epub 2019 Nov 12.

Department of Ophthalmology, National Taiwan University Hospital, No 7, Chung-Shan S. Rd, Taipei 100, Taiwan.

Background: Epibulbar complex choristoma, a rare congenital epibulbar tumor, has many diverse forms. Reviewing the literature, it can present clinically as either a circumferential or isolated epibulbar mass, limbal tumor, lateral canthal mass, aggregate of ectopic cilia in the upper eyelid, eyelid mass mimicking chalazion, or lacrimal caruncle mass. The management depends on the extent of involvement, the risk of amblyopia, and cosmetic concerns. Read More

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http://dx.doi.org/10.1186/s12886-019-1234-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852968PMC
November 2019

A case of systematized verrucous epidermal nevus successfully treated with low dose acitretin.

Dermatol Ther 2019 11 21;32(6):e13106. Epub 2019 Oct 21.

Department of Pathology, Institute of Pathology, ICMR, New Delhi, India.

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http://dx.doi.org/10.1111/dth.13106DOI Listing
November 2019
1.478 Impact Factor

A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.

Anim Genet 2019 Dec 1;50(6):768-771. Epub 2019 Oct 1.

DermFocus, University of Bern, 3001, Bern, Switzerland.

Congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome in humans is a genodermatosis characterized by inflammatory linear verrucous epidermal nevi (ILVEN), often showing a striking lateralization pattern. It is caused by variants in the NSDHL gene encoding a 3β-hydroxysteroid dehydrogenase involved in the cholesterol biosynthesis pathway. In the present study, we investigated a female Chihuahua, which showed clinical and histological signs of ILVEN. Read More

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http://dx.doi.org/10.1111/age.12862DOI Listing
December 2019

Skin cancer development in a birthmark.

CMAJ 2019 09;191(39):E1082

Faculty of Medicine (Finstad) and Division of Dermatology (Kirchhof), Department of Medicine, University of Ottawa; Ottawa Hospital (Kirchhof), Ottawa, Ont.

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http://dx.doi.org/10.1503/cmaj.190492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773540PMC
September 2019

Microcystic Adnexal Carcinoma Originating in a Nevus Sebaceous: A Case Report of a 16-year-old Boy.

Acta Derm Venereol 2019 Nov;99(12):1182-1183

Department of Dermatology and Venereology, Linköping University Hospital, SE-58185 Linköping, Sweden.

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http://dx.doi.org/10.2340/00015555-3272DOI Listing
November 2019
5 Reads

Basal cell carcinoma within nevus sebaceous of the trunk.

Proc (Bayl Univ Med Cent) 2019 Jul 21;32(3):392-393. Epub 2019 May 21.

Texas A&M College of MedicineBryanTexas.

We report the first case of an 82-year-old woman with five basal cell carcinomas within a large nevus sebaceous of the trunk. Nevus sebaceous of Jadassohn is a congenital cutaneous hamartoma affecting 0.3% of newborns. Read More

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http://dx.doi.org/10.1080/08998280.2019.1605776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650237PMC
July 2019
3 Reads

Ameloblastoma associated with syndromes: A systematic review.

J Stomatol Oral Maxillofac Surg 2020 Apr 20;121(2):146-149. Epub 2019 Jul 20.

Education Development Office, School of dentistry, Tehran University of Medical Sciences, Tehran, Iran.

Odontogenic lesions have been described in several syndromes. Despite multiple reports of ameloblastoma's association with various syndromes, it has not been added to the diagnostic criteria for any syndrome. Thus, the aim of this systematic review was gathering such cases' data. Read More

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http://dx.doi.org/10.1016/j.jormas.2019.07.010DOI Listing
April 2020
4 Reads

Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype?

Indian Dermatol Online J 2019 Jul-Aug;10(4):447-452

Department of Dermatology, Venereology and Leprosy, Dr. R. P. Govt. Medical College, Kangra, (Tanda), Himachal Pradesh, India.

CLOVES syndrome characterized by ongenital ipomatous vergrowth, ascular malformations, pidermal nevi, and keletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in . This 3-year-old boy, born to nonconsanguineous and healthy parents, had epidermal verrucous nevus, lower limb length discrepancy and bilateral genuvalgum, anterior abdominal wall lipomatous mass, central beaking of L2 and L3, and fibrous dysplasia of the left frontal bone. Ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly were peculiar to him denoting an uncommon phenotype. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_418_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615369PMC
July 2019
4 Reads

Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome.

J Pediatr Adolesc Gynecol 2019 Dec 19;32(6):648-650. Epub 2019 Jul 19.

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

Background: Most patients with phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA)-related overgrowth spectrum become symptomatic early in life and need treatment before puberty. Recently, the specific inhibition of PIK3CA pathways has been proposed as a therapeutic option for these patients improving their surgical options and quality of life. Alpelisib, a specific alpha fraction inhibitor, has shown promising results. Read More

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http://dx.doi.org/10.1016/j.jpag.2019.07.003DOI Listing
December 2019
6 Reads

Neurodevelopmental Aspects of RASopathies.

Mol Cells 2019 Jun;42(6):441-447

Division of Integrative Biosciences and Biotechnology.

gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the components of RAS/mitogen-activated protein kinase (RAS/MAPK) pathway has been shown to cause developmental disorders, known as RASopathies. Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals with RASopathies show abnormalities in various organ systems including central nervous system. Read More

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http://dx.doi.org/10.14348/molcells.2019.0037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602148PMC
June 2019
5 Reads

Dermoscopic aspect of verrucous epidermal nevi: new findings

Turk J Med Sci 2019 06 18;49(3):710-714. Epub 2019 Jun 18.

Department of Dermatology and Veneorology, Faculty of Medicine, İstanbul Medeniyet University, İstanbul, Turkey

Background/aim: Verrucous epidermal nevi are cutaneous hamartomas with many clinical variants. Dermoscopic features of verrucous epidermal nevus have rarely been investigated. We aimed to identify dermoscopic findings of the entity which will facilitate the diagnostic process by reducing the use of invasive diagnostic methods. Read More

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http://online.journals.tubitak.gov.tr/openAcceptedDocument.h
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http://dx.doi.org/10.3906/sag-1811-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7018236PMC
June 2019
2 Reads

Squamous cell carcinoma with perineural involvement in nevus sebaceus.

Cutis 2019 Apr;103(4):E17-E19

Department of Pathology, Laboratory Services, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.

Nevus sebaceus (NS), also known as an organoid nevus, is a congenital skin hamartoma involving the pilosebaceous unit, epidermis, and adnexa, frequently occurring in the scalp area. During childhood, the lesion remains unchanged but may subsequently increase in size during puberty in response to hormonal release, with possible tumor development. We report a case of squamous cell carcinoma (SCC) development in an NS with histologic evidence of perineural involvement on the anterior central scalp of a 13-year-old adolescent girl. Read More

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April 2019
15 Reads

Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome.

An Bras Dermatol 2019 Mar-Apr;94(2):227-229. Epub 2019 May 9.

Dermatology Service, Hospital Universitário Regional do Norte do Paraná da Universidade Estadual de Londrina - Clinical Dermatologist, - Itajaí - Santa Catarina- Brazil.

Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20197661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486075PMC
July 2019
14 Reads

Multiple primary melanoma with the Meyerson phenomenon in a young patient.

Melanoma Res 2019 06;29(3):325-327

Departments of Dermatology.

Meyerson phenomenon (MP), also called halo eczema or halo dermatitis, was first described in 1971 as a symmetric eczematous halo around acquired melanocytic nevi. Since then, cases of MP have been described in any kind of melanocytic nevi and also in non-melanocytic tumors. To the best of our knowledge, only four cases of melanoma associated with MP have been reported. Read More

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http://dx.doi.org/10.1097/CMR.0000000000000583DOI Listing
June 2019
6 Reads

Basal Cell Carcinoma on a Nevus Sebaceous of Jadassohn: A Case Report.

J Clin Aesthet Dermatol 2019 Mar 1;12(3):40-43. Epub 2019 Mar 1.

Drs. Paninson, Trope, and Ramos-e-Silva are with the Sector of Dermatology, Postgraduation Course in Dermatology at the University Hospital and School of Medicine, Federal University of Rio de Janeiro in Rio de Janeiro, Brazil.

The nevus sebaceous of Jadassohn, usually present at birth, is a hamartoma composed predominantly of sebaceous glands, which can progress to benign and malignant tumors. Malignant neoplasms on the nevus sebaceous occur in about 2.5 percent of cases, with basal cell carcinoma accounting for 1. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440703PMC
March 2019
29 Reads

[Giant verrucous nevus in a 15-year old girl: about a case].

Pan Afr Med J 2018 24;31:50. Epub 2018 Sep 24.

CNAM (ex Institut Marchoux), Bamako, Mali.

Verrucous nevus is a benign tumor showing a linear pattern on Blaschko lines. It is caused by mosaic mutations of the receptor FGFR3 gene. It manifests as an aesthetic disfigurement, but individuals even experience functional complications due to itchiness. Read More

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http://dx.doi.org/10.11604/pamj.2018.31.50.11408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430852PMC
April 2019
6 Reads

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Mol Genet Genomic Med 2019 05 19;7(5):e625. Epub 2019 Mar 19.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

Background: Postzygotic KRAS, HRAS, NRAS, and FGFR1 mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo-cranio-cutaneous lipomatosis (ECCL), and Schimmelpenning-Feuerstein-Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies. Read More

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http://dx.doi.org/10.1002/mgg3.625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503218PMC
May 2019
9 Reads

Is Schimmelpenning Syndrome Associated with Intracranial Tumors? A Case Report.

Pediatr Neurosurg 2019 15;54(3):201-206. Epub 2019 Mar 15.

Division of Pediatric Neurological Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous and multisystem abnormalities most commonly manifested as cerebral, ocular, and skeletal defects [1]. A single nucleotide mutation in the HRAS or KRAS genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. Read More

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http://dx.doi.org/10.1159/000497149DOI Listing
January 2020
3 Reads

A 3-month-old with papules and plaques in a blaschkoid distribution.

Int J Dermatol 2019 Sep 14;58(9):1037-1039. Epub 2019 Mar 14.

Department of Dermatology, Cleveland Clinic Foundation, Cleveland, OH, USA.

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http://dx.doi.org/10.1111/ijd.14425DOI Listing
September 2019
1 Read
1.227 Impact Factor

A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation.

Pediatr Dermatol 2019 May 12;36(3):368-371. Epub 2019 Mar 12.

Department of Biochemistry, Keio University School of Medicine, Tokyo, Japan.

Woolly hair nevus is a rare syndrome that presents as woolly hair in restricted areas of the scalp and may be associated with pigmented macules or epidermal nevus on the body. Here, we report a case of woolly hair nevus, linear pigmentation, and multiple epidermal nevi with a somatic HRAS c.34G>A(p. Read More

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http://dx.doi.org/10.1111/pde.13783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593414PMC
May 2019
6 Reads

Dysplastic/Clark naevus in the era of molecular pathology.

Australas J Dermatol 2019 Aug 10;60(3):186-191. Epub 2019 Mar 10.

Department of Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Western Australia, Australia.

Dysplastic naevus has been a controversial entity since its first description by Clark in 1978. Despite a recent paradigm shift from the initially proposed notion that dysplastic naevus is a precursor to melanoma, its management has been increasingly more aggressive in the last decade. The latter is due to an unresolved uncertainty regarding its biological nature which necessitates further clarification. Read More

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http://doi.wiley.com/10.1111/ajd.13019
Publisher Site
http://dx.doi.org/10.1111/ajd.13019DOI Listing
August 2019
9 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
19 Reads

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 2020
37 Reads
2.602 Impact Factor

Inflammatory linear verrucous epidermal nevus treated successfully with crisaborole ointment in a 5-year-old boy.

Pediatr Dermatol 2019 May 5;36(3):404-405. Epub 2019 Mar 5.

Duke University School of Medicine, Durham, North Carolina.

Inflammatory linear verrucous epidermal nevus (ILVEN) is a chronic, a linear, or whorled array of inflammatory, following the lines of Blaschko. Treatment of ILVEN is challenging with numerous therapies of varying degrees of success reported. We present a case of ILVEN in a 5-year-old-boy, treated successfully with crisaborole 2% ointment. Read More

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http://dx.doi.org/10.1111/pde.13793DOI Listing
May 2019
2 Reads

Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy.

Eur J Dermatol 2019 Feb;29(1):2-5

Department of Dermatology, Medical Center-University of Freiburg, Hauptstr 7, 79104 Freiburg, Germany.

The co-existence of papular nevus spilus (PNS) and ipsilateral extracutaneous abnormalities involving peripheral nerves of the skin or muscles was originally described as "speckled lentiginous nevus syndrome". To avoid confusion with macular nevus spilus, the condition was recently re-named "papular nevus spilus syndrome". In addition to 14 published cases, we identified six new cases via a search of the worldwide literature. Read More

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http://dx.doi.org/10.1684/ejd.2018.3488DOI Listing
February 2019
20 Reads

Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus.

Australas J Dermatol 2019 Aug 14;60(3):e245-e246. Epub 2019 Feb 14.

Adult Genetic Medicine, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/ajd.13007DOI Listing
August 2019
1 Read

Molecular diagnosis of somatic overgrowth conditions: A single-center experience.

Mol Genet Genomic Med 2019 03 13;7(3):e536. Epub 2019 Feb 13.

Genetic Diagnostic Laboratory, Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.

Background: Somatic overgrowth conditions, including Proteus syndrome, Sturge-Weber syndrome, and PIK3CA-related overgrowth spectrum, are caused by post-zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur in growth-promoting pathways leading to cellular proliferation and expansion of tissues that arise from the affected cellular lineage.

Methods: We report on 80 serial patients evaluated for somatic overgrowth conditions in a diagnostic laboratory setting, including three prenatal patients. Read More

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http://dx.doi.org/10.1002/mgg3.536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418364PMC
March 2019
16 Reads

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
Publisher Site
http://dx.doi.org/10.1136/bcr-2018-225640DOI Listing
January 2019
17 Reads

Successful treatment of inflammatory linear verrucous epidermal nevus (ILVEN) with 308-nm excimer laser: Patient patient required.

Photodermatol Photoimmunol Photomed 2019 05 31;35(3):196-197. Epub 2019 Jan 31.

Division of Dermatology, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio.

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http://dx.doi.org/10.1111/phpp.12449DOI Listing
May 2019
2 Reads

Schimmelpenning Syndrome.

Indian Pediatr 2018 Nov;55(11):1014

Department of Dermatology, Venereology and Leprosy, Dr RML Hospital and PGIMER, New Delhi, India.

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November 2018
3 Reads

Mild clinical presentation of a patient with a mutation in the NSDHL gene.

Clin Exp Dermatol 2019 Jun 28;44(4):456-458. Epub 2018 Nov 28.

Bristol Dermatology Department, Bristol Royal Infirmary, Bristol, UK.

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http://dx.doi.org/10.1111/ced.13845DOI Listing

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
9 Reads

Cutaneous sebaceous tumours and Lynch syndrome: long-term follow-up of 60 patients.

Clin Exp Dermatol 2019 Jul 14;44(5):506-511. Epub 2018 Nov 14.

Department of Dermatology, Hospital Universitari de Bellvitge, IDIBELL, Universitat de Barcelona, Barcelona, Spain.

Background: Sebaceous neoplasms (SN) may appear sporadically in the general population but may also be part of the Muir-Torre variant of Lynch syndrome (MT-LS). There are few studies in southern Europe on the incidence of MT-LS in the population of patients with SN.

Aim: To retrospectively review patients with SN and to analyse their clinical features and the incidence of MT-LS. Read More

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http://dx.doi.org/10.1111/ced.13828DOI Listing
July 2019
6 Reads

A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation.

J Craniofac Surg 2019 Jan;30(1):184-185

Division of Plastic Surgery, Children's National Health System, Washington, DC.

Schimmelpenning syndrome is a neurocutaneous disorder characterized by craniofacial nevus sebaceus that fall along embryonic cutaneous lines and tend to be associated with neurological, ocular, skeletal, and vascular abnormalities. We report a child with extensive nevus sebaceus of the scalp, face, and thorax and other unusual physical findings who was found to have a mosaic mutation of KRAS c.35G>A p. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004887DOI Listing
January 2019
25 Reads

Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic Mutation.

Ann Clin Lab Sci 2018 Sep;48(5):665-669

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea

Recent molecular genetic studies have revealed that Schimmelpenning-Feuerstein-Mims syndrome (SFMS), which presents as sebaceous nevi, is a mosaic RASopathy caused by postzygotic somatic activating mutations in , , or Some patients with SFMS also have hypophosphatemic rickets, called cutaneous skeletal hypophosphatemia syndrome (CSHS). We here report a pediatric case of biopsy-proven CSHS with mosaic mutation in the gene. A girl who showed extensive nevus sebaceous since birth had suffered progressive lower extremity deformity since the age of 5 years. Read More

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September 2018
43 Reads

Verruciform xanthoma overlying inflammatory linear verrucous epidermal nevus and in broad segmental distribution.

BMJ Case Rep 2018 Oct 17;2018. Epub 2018 Oct 17.

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

A 17-year-old woman presented with moderately itchy, non-progressive, linearly arranged verrucous plaques over dorsum of left foot since early childhood. Two years ago, she developed slowly increasing, verrucous exophytic growth in posterior most aspect of linear verrucous plaque. One year ago, she also developed multiple, linearly arranged, fleshy plaques with surface crusting over lateral aspect of right leg extending to thigh. Read More

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http://dx.doi.org/10.1136/bcr-2018-225964DOI Listing
October 2018
11 Reads

Inflammatory linear verrucous epidermal nevus responsive to 308-nm excimer laser treatment.

Cutis 2018 Aug;102(2):111-114

Advanced Dermatology Associates LTD; Lehigh Valley Health Network, Allentown, Pennsylvania, USA.

Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare cutaneous disease that presents as linear psoriasiform plaques with associated prominent pruritus. The lesions commonly pre-sent on the legs with onset during childhood. Inflammatory linear verrucous epidermal nevus typically is refractory to treatment. Read More

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August 2018
27 Reads

Dermatoscopy of Common Lesions in Pediatric Dermatology.

Dermatol Clin 2018 Oct 16;36(4):463-472. Epub 2018 Aug 16.

Dermatology Clinic, University of Catania, Via S. Sofia 78, Catania 95123, Italy.

The use of dermatoscopy to assist in the diagnosis of a variety of proliferative, pigmentary, inflammatory, infectious, congenital, and genetic cutaneous and skin appendage disorders is constantly increasing, as it is effective, affordable, noninvasive, and quick to perform. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07338635183108
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http://dx.doi.org/10.1016/j.det.2018.05.012DOI Listing
October 2018
49 Reads
1.434 Impact Factor

Dermoscopy of Adnexal Tumors.

Dermatol Clin 2018 Oct 16;36(4):397-412. Epub 2018 Aug 16.

Dermatology Department, Hospital General Universitario de Alicante, ISABIAL, C/Maestro Alonso 109, 03010 Alicante, Spain.

Cutaneous adnexal tumors include lesions with apocrine, eccrine, follicular, sebaceous, and mixed differentiation. Most are benign and sporadic, although malignant forms are occasionally observed and some cases develop in the setting of inherited syndromes. These tumors often cause immense diagnostic difficulty. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07338635183107
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http://dx.doi.org/10.1016/j.det.2018.05.007DOI Listing
October 2018
67 Reads