899 results match your criteria Epidermal Nevus Syndrome

Expanding mutational spectrum of HRAS by a patient with Schimmelpenning-Feuerstein-Mims syndrome.

J Dermatol 2021 Jun 9. Epub 2021 Jun 9.

Department of Pediatric Hematology-Oncology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

As one of the epidermal nevus syndromes, Schimmelpenning-Feuerstein-Mims (SFM) is characterized by craniofacial nevus sebaceous (NS) and extracutaneous abnormalities (e.g., brain, eyes, and bone). Read More

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Dermatologic findings in individuals with genetically confirmed Proteus syndrome.

Pediatr Dermatol 2021 Jun 8. Epub 2021 Jun 8.

Department of Dermatology, Uniformed Services University, Bethesda, MD, USA.

Background/objective: Proteus syndrome, caused by a mosaic activating AKT1 variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals with genetically confirmed Proteus syndrome.

Methods: We conducted a retrospective review of records from dermatologic examinations of individuals evaluated at the NIH with a molecular diagnosis of Proteus syndrome. Read More

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Renal Involvement in Linear Nevus Sebaceous Syndrome-An Underrecognized Feature.

Pediatr Rep 2021 May 1;13(2):203-209. Epub 2021 May 1.

Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, China.

Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. Read More

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Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.

J Eur Acad Dermatol Venereol 2021 Apr 30. Epub 2021 Apr 30.

Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.

Background: Postzygotic mutations in FGFR2 have been identified in mosaic forms of acne, keratinocytic epidermal nevi, nevoid acanthosis nigricans / rounded and velvety epidermal nevus and in two fetuses with papillomatous pedunculated sebaceous nevus (PPSN).

Objectives: To determine the clinical and genetic characteristics of children with cerebriform, papillomatous and pedunculated variants of sebaceous nevi.

Methods: Infants diagnosed with sebaceous nevi characterized by a cerebriform, papillomatous and/or pedunculated morphology over a 10-year period (2010-2019) at three paediatric dermatology centres in Switzerland and France were included in this case series. Read More

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Eccrine Poroma Arising within Nevus Sebaceous.

Ann Dermatol 2020 Dec 11;32(6):516-518. Epub 2020 Nov 11.

Department of Dermatology, School of Medicine, Kyung Hee University, Seoul, Korea.

Secondary neoplasms in nevus sebaceous can develop during adolescence and adulthood. Trichoblastoma and syringocystadenoma papilliferum are the most common benign neoplasms, but poroma is rarely reported. A 28-year-old female presented with an asymptomatic mass on the scalp. Read More

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December 2020

Genetic analyses of a secondary poroma and trichoblastoma in a HRAS-mutated sebaceous nevus.

J Dermatol 2021 Apr 27. Epub 2021 Apr 27.

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

A sebaceous nevus is a congenital skin hamartoma caused by postzygotic HRAS or KRAS mosaic mutations. With age, affected individuals may develop secondary tumors within a sebaceous nevus. RAS mutations are harbored from the onset of sebaceous nevus, and further mutations can be expected to be required in order to explain the initiation of secondary tumors. Read More

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Nevus sebaceus of Jadassohn - high frequency ultrasound imaging and videodermoscopy examination. Case presentation.

Med Pharm Rep 2021 Jan 29;94(1):112-117. Epub 2021 Jan 29.

Dermatology Department, Rostov State Medical University, Russia.

Nevus sebaceus of Jadassohn (NSJ) is a congenital cutaneous hamartoma mainly developing from pilosebaceous unit cells. NSJ has the potential to develop into a variety of benign and malignant tumors, which are not limited to sebaceous differentiation. The dynamical monitoring for the earliest malignant transformation is necessary. Read More

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January 2021

Differentially expressed proteins identified by TMT proteomics analysis in children with verrucous epidermal naevi.

J Eur Acad Dermatol Venereol 2021 Jun 28;35(6):1393-1406. Epub 2021 Jan 28.

Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.

Background: Verrucous epidermal naevi (VEN) are benign skin tumours, considered keratinocytic epidermal naevi, that appear at birth or early childhood. VEN may display a range of appearances, depending on patient age. Although the number of studies regarding VEN is increasing, the exact mechanism of VEN is still unknown. Read More

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Neuroimaging manifestations of epidermal nevus syndrome.

Quant Imaging Med Surg 2021 Jan;11(1):415-422

Department of Radiology, Great Ormond Street Hospital, London, UK.

Epidermal nevus syndrome (ENS) represents a diverse group of rare neurocutaneous diseases associated with the presence of characteristic epidermal nevi (EN) in the skin and extracutaneous manifestations in the eyes, skeletal, urogenital and central nervous systems. We present a case series of 7 children with ENS, with specific attention to the neuroradiological characteristics of this entity. Read More

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January 2021

Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.

BMC Med Genomics 2020 12 12;13(1):188. Epub 2020 Dec 12.

Department of Dermatologic Surgery, Hospital for Skin Diseases (Institute of Dermatology), Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, 210042, Jiangsu, China.

Background: Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders including the central nervous system. Herein, we report gene mutational profile via whole exome sequencing of both lesional and non-lesional skin samples in a LNSS patient. Read More

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December 2020

Teaching NeuroImages: CLOVES Syndrome.

Neurology 2021 03 1;96(10):e1487-e1488. Epub 2020 Dec 1.

From the Child Health and Human Development Program (M.C., E.K., M.S.), Research Institute of the McGill University Health Centre; CHU Sainte Justine Research Center (M.C.), Université de Montréal; and Division of Pediatric Neurology (S.A.S., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada.

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Schimmelpenning Syndrome with Large Nevus Sebaceous and Multiple Epidermal Nevi.

Case Rep Dermatol 2020 Sep-Dec;12(3):186-191. Epub 2020 Oct 30.

Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Hasan Sadikin General Hospital, Bandung, Indonesia.

Epidermal nevus syndromes are a group of rare multiorgan disorders. Schimmelpenning syndrome is a clinical variant of epidermal nevus syndromes. This congenital syndrome is characterized by the existence of nevus sebaceous and usually accompanied by abnormalities of the eyes, skeletal, cardiovascular, and central nervous systems. Read More

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October 2020

[Ocular manifestations and surgical treatment of the linear nevus sebaceous syndrome].

Zhonghua Yan Ke Za Zhi 2020 Nov;56(11):846-852

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology & Visual Sciences, Beijing 100730, China.

To report the clinical and pathological features and surgical treatment of the linear nevus sebaceous syndrome. It was a retrospective case series study. The clinical records of 11 patients (14 eyes) who were diagnosed as linear nevus sebaceous syndrome between April 2009 and February 2018 at Beijing Tongren Hospital were analyzed. Read More

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November 2020

[Treatment of nevus of Ota and Ito and epidermal nevus syndrome].

Hautarzt 2020 Dec;71(12):926-931

National Institute of Laser Enhanced Sciences (NILES), Cairo University, Giza, Ägypten.

Nevus of Ota, nevus of Ito and nevus of Hori are special melanocytic nevi that have a slate-brown or blue/grey coloring. They are pigmented disorders characterized by its heterotopic melanocytic dermal location and by blue/brown unilateral and sometimes bilateral facial patch in case of nevus of Ota, and in the supraclavicular, scapular, and deltoid region in case of nevus of Ito. It is more common in patients with Asian and dark-skinned ethnic backgrounds. Read More

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December 2020

Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.

Genes (Basel) 2020 10 30;11(11). Epub 2020 Oct 30.

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

Loss-of-function variants in the gene have been associated with epidermal nevi in humans with congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome and in companion animals. The gene codes for the NAD(P)-dependent steroid dehydrogenase-like protein, which is involved in cholesterol biosynthesis. In this study, a female Chihuahua cross with a clinical and histological phenotype consistent with progressive epidermal nevi is presented. Read More

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October 2020

[Schimmelpenning-Feuerstein-Mims syndrome].

Rev Prat 2020 05;70(5):524

Service de dermatologie, vénéréologie et allergologie, université Mohammed Ier, CHU Mohammed VI, Oujda, Maroc.

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Clin Dermatol 2020 Jul - Aug;38(4):455-461. Epub 2020 Apr 1.

Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, Washington, USA. Electronic address:

RASopathies are a group of disorders characterized by mutations in the RAS-MAPK pathway. RAS-MAP signaling plays a critical role in cell differentiation, proliferation, and survival. Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1. Read More

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October 2020

Photodynamic therapy for nevus sebaceous of Jadassohn affecting esthetically areas: a potential therapeutic approach.

Dermatol Ther 2020 11 28;33(6):e14313. Epub 2020 Sep 28.

Department of Dermatology, International Mongolian Hospital of Inner Mongolia, Hohhot, Inner Mongolia, China.

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November 2020

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Childs Nerv Syst 2020 10 17;36(10):2229-2268. Epub 2020 Sep 17.

Pediatric Neurosurgery, International Neuroscience Institute [INI], Hanover, Germany.

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g. Read More

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October 2020

Multiple adenomatoid odontogenic tumours associated with eight impacted teeth.

Oral Radiol 2021 Apr 7;37(2):321-327. Epub 2020 Aug 7.

Department of Oral Pathology and Oral Biology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.

Adenomatoid odontogenic tumour (AOT) is a benign tumour that arises from odontogenic epithelial remnants. AOTs usually present as innocuous lesions with limited growth potential. Multiple AOTs are frequently reported in the literature, with reports of tumours associated with up to seven impacted teeth. Read More

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Dermoscopic clues for sebaceous carcinoma arising in nevus sebaceous.

Chin Med J (Engl) 2020 Sep;133(17):2121-2122

Department of Dermatovenereology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

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September 2020

Ultrasound Imaging of Nevus Sebaceous of Jadassohn.

J Ultrasound Med 2021 Feb 29;40(2):407-415. Epub 2020 Jul 29.

Department of Pathology, Hospital San Borja Arriaran, Central Campus Faculty of Medicine, Universidad de Chile, Santiago, Chile.

Nevus sebaceous of Jadassohn (NSJ) is a cutaneous hamartoma commonly found in the scalp and face and more frequent in children. Clinically, it presents as a yellowish and hairless plaque. In later stages, the NSJ can develop secondary tumors, including skin cancer. Read More

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February 2021

Nevoid acanthosis nigricans: Report of four cases localized to the umbilicus.

Indian J Dermatol Venereol Leprol 2020 Jun 1. Epub 2020 Jun 1.

Medical Research Division, UMAE Pediatric Hospital, CMNO, IMSS, Guadalajara, Mexico.

Nevoid acanthosis nigricans is a rare, benign form of acanthosis nigricans. Of the 24 cases documented in the literature, only two are exclusively localized to the umbilicus. We present four cases of nevoid acanthosis nigricans localized to the umbilicus; in patients less than 25 years of age, with no known co-morbidities, three of whom were females. Read More

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Epidermal Nevus Syndrome with Hypophosphatemic Rickets.

Indian J Endocrinol Metab 2020 Mar-Apr;24(2):227-229. Epub 2020 Apr 30.

Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.

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Association of Central Precocious Puberty with a Rare Presentation of Schimmelpenning-Feuerstein-Mims Syndrome in a Peruvian Girl.

Case Rep Endocrinol 2020 9;2020:1928121. Epub 2020 Jul 9.

Department of Endocrinology and Metabolism, The Child's Health National Institute (Instituto Nacional de Salud del Niño), Lima, Peru.

Schimmelpenning-Feuerstein-Mims syndrome (SFM), an epidermal nevus syndrome characterized by skin lesions, has an estimated incidence of 1 per 10 000 live births. Nevus sebaceous, the most common cutaneous lesion, and verrucous nevus, the less frequent lesion, are coupled with a wide range of extracutaneous manifestations. As part of these manifestations, rarely, central precocious puberty can arise. Read More

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Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.

Pediatr Dermatol 2020 Sep 14;37(5):890-895. Epub 2020 Jul 14.

Department of Dermatology, University Hospitals of Leuven, Leuven, Belgium.

Keratinocytic epidermal nevi (KEN) are characterized clinically by permanent hyperkeratosis in the distribution of Blaschko's lines and histologically by hyperplasia of epidermal keratinocytes. KEN with underlying RAS mutations have been associated with hypophosphatemic rickets and dysplastic bone lesions described as congenital cutaneous skeletal hypophosphatemia syndrome. Here, we describe two patients with keratinocytic epidermal nevi, in one associated with a papular nevus spilus, who presented with distinct localized congenital fibro-osseous lesions in the lower leg, diagnosed on both radiology and histology as osteofibrous dysplasia, in the absence of hypophosphatemia or rickets, or significantly raised FGF23 levels but with distinct mosaic HRAS mutations. Read More

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September 2020

Rheumatoid Arthritis and CLOVES Syndrome: A Tricky Diagnosis.

Diagnostics (Basel) 2020 Jul 9;10(7). Epub 2020 Jul 9.

Department of Molecular Sciences, "Iuliu Hațieganu" University of Medicine and Pharmacy Cluj, 6, Pasteur St., 400349 Cluj-Napoca, Romania.

The PI3K/AKT/mTOR signaling pathway is significantly activated in rheumatoid arthritis. In addition, somatic activating mutations of the PI3K/AKT/mTOR pathway may result in -related overgrowth spectrum diseases, including CLOVES (Congenital Lipomatous Overgrowth, Vascular malformation, Epidermal nevi, Skeletal abnormalities/Scoliosis) syndrome. We describe the case of a young female patient, with anti-citrullinated peptide antibodies-positive rheumatoid arthritis, referred for persistent finger pain and stiffness. Read More

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Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?

J Dermatol 2020 Sep 12;47(9):1063-1066. Epub 2020 Jul 12.

Department of Experimental, Diagnostic and Specialty Medicine - Division of Dermatology, University of Bologna, Bologna, Italy.

Melorheostosis (MEL) is a rare benign bone disorder that can be associated with several anomalies, including vascular abnormalities, nevus sebaceus, unilateral nevoid telangiectasia, linear scleroderma and hypertrichosis. We report the case of a 6-year-old patient who showed an unusual co-occurrence of bone hyperostosis and different skin lesions affecting the same side of the body: MEL, verrucous epidermal nevus, connective tissue nevus, linear scleroderma-like disorder, hyperpigmentation and hypertrichosis. The spatial co-occurrence of these conditions made us speculate as to whether they originated from a common genetic mechanism or if their co-occurrence was completely accidental. Read More

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September 2020

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.

Photodermatol Photoimmunol Photomed 2020 Sep 24;36(5):339-350. Epub 2020 Jul 24.

State University of New York Downstate and Veterans Affairs Medical Center, Brooklyn, NY, USA.

Background: Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at-risk populations. The skin plays a critical role in vitamin D synthesis. Read More

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September 2020