959 results match your criteria Epidermal Nevus Syndrome


Decoding a gene expression program that accompanies the phenotype of sporadic and Basal Cell Nevus Syndrome-associated odontogenic keratocyst.

J Oral Pathol Med 2022 Jun 4. Epub 2022 Jun 4.

Department of Oral Medicine & Pathology and Hospital Dentistry, School of Dentistry, National and Kapodistrian University of Athens, Athens, Greece.

Background: Odontogenic keratocyst (OKC) is characterized by local aggressive behavior and a high recurrence rate, as well as the potential to develop in association with the Basal Cell Nevus Syndrome (BCNS). The aim of this study was to decode the gene expression program accompanying OKC phenotype.

Methods: 150-bp paired-end RNA-sequencing was applied on 6 sporadic and 6 BSCN-associated whole-tissue OKC samples in comparison to 6 dental follicles, coupled to bioinformatics and complemented by immunohistochemistry. Read More

View Article and Full-Text PDF

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.

Front Endocrinol (Lausanne) 2022 6;13:866831. Epub 2022 May 6.

Department of Pediatric Nephrology and Pulmonology, University Hospital Leipzig, Leipzig, Germany.

Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. Read More

View Article and Full-Text PDF

The first case of Chinese phacomatosis pigmentokeratotica diagnosed by a missense HRAS mosaicism.

J Dermatol 2022 May 13. Epub 2022 May 13.

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

Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus (EN) syndrome, featured by co-occurrence of speckled lentiginous nevus (SLN) and nevus sebaceous (NS). The underlying mechanism has not been clarified. Pathogenic mutations in HRAS, KRAS and BRAF gene are recently recognized as the genetic cause of PPK. Read More

View Article and Full-Text PDF

Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach.

Orphanet J Rare Dis 2022 05 7;17(1):189. Epub 2022 May 7.

Interventional Radiology, Nemours Children's Hospital, Orlando, FL, USA.

Background: PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Here, we aim to describe the PROS experience from the patients' and caregivers' points of view, from onset to diagnosis to treatment and support. Read More

View Article and Full-Text PDF

Becker's nevus.

Pan Afr Med J 2022 17;41:142. Epub 2022 Feb 17.

Department of Microbiology, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

View Article and Full-Text PDF

Inflammatory linear verrucous epidermal nevus in a patient with diabetes.

Pan Afr Med J 2022 17;41:139. Epub 2022 Feb 17.

Institut National de Nutrition et de Technologies Alimentaires, Tunis, Tunisie.

View Article and Full-Text PDF

Identification of Codon 146 Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Int J Mol Sci 2022 Apr 6;23(7). Epub 2022 Apr 6.

Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.

Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL) and epidermal nevus syndrome (ENS). This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 variants in an individual with OES and, for the first time, in an individual with (isolated) epidermal nevus. Read More

View Article and Full-Text PDF

A Case of Apocrine Carcinoma Arising in a Sebaceous Naevus: Detection of HRAS G13R Mutation.

Acta Derm Venereol 2022 04 13;102:adv00697. Epub 2022 Apr 13.

Department of Dermatology, Shinshu University School of Medicine. 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.

View Article and Full-Text PDF

Development of seven secondary neoplasms in a nevus sebaceous: a case report and literature review.

Arch Craniofac Surg 2022 Apr 30;23(2):83-88. Epub 2022 Mar 30.

International Aesthetic Medical Center, E-Da Dachang Hospital, Kaohsiung, Taiwan.

Nevus sebaceous of Jadassohn is a congenital cutaneous hamartoma with epidermal, sebaceous, follicular, and apocrine structures that usually appears at birth or in early childhood. It has the potential to generate a variety of secondary neoplasms of different lineages, and the risk increases with patient age. Although multiple neoplasms may occasionally arise within the same lesion, the coexistence of more than five secondary tumors is extremely rare. Read More

View Article and Full-Text PDF

Searching beyond nevi - A rare case of neurocutaneous ocular syndrome.

Orbit 2022 Mar 17:1-5. Epub 2022 Mar 17.

Department of Orbit and Oculoplasty, Aravind Eye Hospital and PG Institute of Ophthalmology, Madurai, India.

Epidermal nevus syndrome is a rare congenital disorder affecting only a few hundred people in the world. It has ophthalmic, dermatological, and neurological manifestations, with varied presentation. Here, we report a case of two-year-old child who presented with epibulbar mass in left eye, pigmented nevi over left side of the body and alopecia over left side of parieto-temporal scalp. Read More

View Article and Full-Text PDF

Differences in clinical characteristics and lesion proteomics between inflammatory linear verrucous epidermal nevus and local verrucous epidermal nevus.

J Proteomics 2022 05 11;260:104554. Epub 2022 Mar 11.

Department of Dermatology, Yijishan Hospital, the First Affiliated Hospital of Wannan Medical College, Wuhu, Anhui, China.

Background: Verrucous epidermal nevus (VEN) are keratinocytic epidermal nevus that appear at birth or in early childhood. They exhibit a range of manifestations, depending on the patient's age. VEN are rarely encountered in clinical practice, and the systemic and comprehensive clinical characteristics of VEN have not been well investigated. Read More

View Article and Full-Text PDF

Nevus Comedonicus Syndrome Associated with Psychiatric Disorder.

Diagnostics (Basel) 2022 Feb 2;12(2). Epub 2022 Feb 2.

Department of Pathology, Yonsei University College of Medicine, Seoul 03722, Korea.

Nevus comedonicus (NC) is a rare hamartoma of the pilosebaceous unit origin. The association with extracutaneous abnormalities defines NC syndrome (NCS). Fewer than 50 cases of NCS have been reported in the English literature. Read More

View Article and Full-Text PDF
February 2022

Trichilemmoma Arising in a Sebaceous Nevus Successfully Treated with Cryotherapy.

Clin Cosmet Investig Dermatol 2022 7;15:185-188. Epub 2022 Feb 7.

Department of Dermatology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Eastern Province, Saudi Arabia.

Nevus sebaceous of Jadassohn (NSJ) is a benign congenital hamartoma composed of follicular, adnexal appendages and epidermal hyperplasia. Various secondary neoplasms, mostly adnexal in origin, can arise within nevus sebaceous. We report the case of a 16-year-old female who had NSJ associated with trichilemmoma, which was successfully treated with cryotherapy. Read More

View Article and Full-Text PDF
February 2022

Multiple verruciform xanthoma arising on inflammatory linear verrucous epidermal nevi with the subsequent development of oral and genital lesions.

J Dermatol 2022 06 16;49(6):e187-e188. Epub 2022 Feb 16.

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

View Article and Full-Text PDF

Giant Bowen's disease with unilateral verrucous epidermal nevus on non-sun-exposed skin.

Eur J Dermatol 2021 Dec;31(6):847-848

Department of Dermatology, Peking University People's Hospital, Beijing 100044 P. R. China.

View Article and Full-Text PDF
December 2021

[Syndroms associated with benign skin tumors].

Hautarzt 2022 Feb 25;73(2):114-126. Epub 2022 Jan 25.

Pädiatrische Dermatologie, Dermatoonkologisches Forschungungslabor, Colentina Klinik, Carol-Davila-Universität für Medizin und Pharmazie, Bukarest, Rumänien.

Benign skin tumors represent a wide category of diseases. The diagnosis is usually provided by the clinical aspect and the patient history. The pathological examination is not always considered necessary and in most cases the treatment is removal of the lesion by cryotherapy, electrosurgery or laser ablation. Read More

View Article and Full-Text PDF
February 2022

Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.

In Vivo 2022 Jan-Feb;36(1):274-293

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

Background/aim: The aim of this study was to present the long-term course of a patient with nevus sebaceous syndrome (NSS). Recent genetic studies place the syndrome in the emerging group of so-called RASopathies. The focus of the report is on surgical treatment and morphological and genetic findings of the face and oral cavity. Read More

View Article and Full-Text PDF
January 2022

Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.

J Dermatol 2022 Mar 9;49(3):379-382. Epub 2021 Dec 9.

Department of Dermatology, "Emek" Medical Center, Afula, Israel.

Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in GJB2, encoding the gap junction protein connexin 26. These syndromes are characterized by severe skin disease, hearing loss, recurrent infections, and cutaneous neoplasms. Cutaneous somatic mutations in the same gene are associated with porokeratotic eccrine ostial dermal duct nevus. Read More

View Article and Full-Text PDF

Epidermal Nevi: What Is New.

Dermatol Clin 2022 Jan;40(1):61-71

Departments of Dermatology and Pediatrics, Vagelos College of Physicians & Surgeons, Columbia University Medical Center, 161 Fort Washington Avenue, 12th Floor, New York, NY 10032, USA. Electronic address:

This article reviews the clinical findings of epidermal nevi and their associated syndromes and provides an update on their pathogenic genetic changes as well as targeted therapies detailed to date. Read More

View Article and Full-Text PDF
January 2022

Facial Rash in a Newborn.

Am Fam Physician 2021 11;104(5):523-524

University of Kansas Medical Center Family Medicine Residency, Kansas City, KS, USA.

View Article and Full-Text PDF
November 2021

Benign and Intermediate-grade Melanocytic Tumors With BRAF Mutations and Spitzoid Morphology: A Subset of Melanocytic Neoplasms Distinct From Melanoma.

Am J Surg Pathol 2022 04;46(4):476-485

Department of Dermatology.

The current classification of Spitz neoplasms in the World Health Organization (WHO), Fourth Edition defines Spitz neoplasms as melanocytic proliferations with characteristic Spitz morphology and a Spitz-associated genomic fusion or HRAS mutation. In contrast, melanocytic neoplasms with BRAF mutations are considered typical of common acquired nevi, dysplastic nevi, and melanomas from intermittent sun-damaged skin. However, increased utilization of ancillary testing methods such as BRAFV600E immunohistochemistry and sequencing studies have made apparent a subgroup of benign-grade and intermediate-grade melanocytic neoplasms with Spitzoid morphology that harbor BRAFV600E mutations. Read More

View Article and Full-Text PDF

Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion.

Case Rep Dermatol 2021 Jan-Apr;13(1):195-201. Epub 2021 Apr 1.

Australasian College of Dermatologists, Rhodes, New South Wales, Australia.

We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed. Read More

View Article and Full-Text PDF

Identification of a recurrent mosaic variant in brain tissue from an individual with nevus sebaceous syndrome.

Cold Spring Harb Mol Case Stud 2021 12 9;7(6). Epub 2021 Dec 9.

Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia 3084.

Nevus sebaceous syndrome (NSS) is a rare, multisystem neurocutaneous disorder, characterized by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular, and skeletal features. It has been associated with several eponyms including Schimmelpenning and Jadassohn. The isolated skin lesion, nevus sebaceous, is associated with postzygotic variants in or in all individuals studied. Read More

View Article and Full-Text PDF
December 2021

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.

J Dermatol 2022 Jan 2;49(1):161-164. Epub 2021 Oct 2.

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

Germline mutations in HRAS cause Costello syndrome (CS), while mosaic mutations in HRAS show a variability of phenotypes, ranging from mild features such as keratinocytic epidermal nevus (KEN), sebaceous nevus (SN), woolly hair nevus (WHN) with KEN, to severe manifestations of CS with cutis laxa. We report two individuals. The first was a 2-year-old boy with woolly hair nevus (WHN) without any other cutaneous involvement, in whom somatic HRAS mutation (c. Read More

View Article and Full-Text PDF
January 2022

Systematized Epidermal Nevus Syndrome Involving the Upper and Lower Eyelids Bilaterally

Turk J Ophthalmol 2021 08;51(4):243-245

Ankara University Faculty of Medicine, Department of Pathology, Ankara, Turkey

A 29-year-old woman presented with dark-colored raised lesions on both eyelids since early childhood. Ophthalmological examination revealed pigmented verrucous lesions on her upper and lower eyelids bilaterally. The patient had a history of generalized tonic-clonic seizures. Read More

View Article and Full-Text PDF

Epidermal Nevus Syndrome Associated with Dwarfism and Atopic Dermatitis.

Children (Basel) 2021 Aug 12;8(8). Epub 2021 Aug 12.

Department of Dermatology, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan.

Epidermal nevus syndrome (ENS) is a congenital disorder characterized by widespread linear epidermal lesions consisting of epidermal nevus and extracutaneous involvements, especially of the central nervous system and skeletal system. Garcia-Hafner-Happle syndrome, also known as fibroblast growth factor receptor 3 (FGFR3)-ENS, is characterized by a systematized keratinocytic EN of soft and velvety type with neurological abnormalities such as seizures, intellectual impairment, and cortical atrophy. We present a case of a 9-year-old Japanese boy afflicted with Garcia-Hafner-Happle syndrome associated with dwarfism and atopic dermatitis. Read More

View Article and Full-Text PDF

Inguinal lymph nodes agenesia in a patient with Schimmelpenning-Feuerstein-Mims syndrome with proven somatic KRAS mutation.

Clin Exp Dermatol 2022 Jan 26;47(1):235-239. Epub 2021 Aug 26.

Department of Pediatric Surgery, León University Hospital Complex; Pediatric Surgery, León, Spain.

Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a neurocutaneous disorder that can affect many body systems. The principal and most characteristic anomalies are craniofacial naevus sebaceous in association with neurological, ocular and skeletal findings. The presence of vascular malformations in this condition is unusual; nevertheless, vascular malformations have been suggested by many authors to be part of the spectrum of the same disease. Read More

View Article and Full-Text PDF
January 2022

Trilogy Revisited: A Case Report of Co-Existing Nevus Sebaceous with Syringocystadenoma Papilliferum and Tubular Apocrine Adenoma.

Indian Dermatol Online J 2021 Jul-Aug;12(4):577-579. Epub 2021 Jul 14.

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

Nevus sebaceous of Jadassohn is a cutaneous hamartoma that is associated with various benign and malignant cutaneous tumors. Syringocystadenoma papilliferum and tubular apocrine adenoma are rare benign adnexal tumors. Simultaneous occurrence of all three tumors at the same site is extremely rare, which has raised several questions regarding their origin and pose a diagnostic challenge owing to considerable overlap in clinical and histological features. Read More

View Article and Full-Text PDF

Becker's nevus syndrome: a case report.

J Med Case Rep 2021 Aug 9;15(1):395. Epub 2021 Aug 9.

Endocrine unit, Department of Paediatrics, University of Nigeria, Ituku Ozalla, Enugu, Nigeria.

Background: Becker's nevus syndrome is a syndrome characterized by the presence of a Becker's nevus with ipsilateral breast hypoplasia or hypoplastic defects of the muscle, skin, or skeleton. The nevus usually consists of a circumscribed, unilateral, irregularly shaped hyperpigmented macule, commonly occurring around the anterior upper trunk, with/without hypertrichosis and/or acneiform lesions. This rare syndrome has not been reported in our locality to the best of our knowledge. Read More

View Article and Full-Text PDF

Cd34+ Stromal Cells/Telocytes in Normal and Pathological Skin.

Int J Mol Sci 2021 Jul 8;22(14). Epub 2021 Jul 8.

Department of Basic Medical Sciences, Faculty of Medicine, University of La Laguna, 38071 Tenerife, Spain.

We studied CD34+ stromal cells/telocytes (CD34+SCs/TCs) in pathologic skin, after briefly examining them in normal conditions. We confirm previous studies by other authors in the normal dermis regarding CD34+SC/TC characteristics and distribution around vessels, nerves and cutaneous annexes, highlighting their practical absence in the papillary dermis and presence in the bulge region of perifollicular groups of very small CD34+ stromal cells. In non-tumoral skin pathology, we studied examples of the principal histologic patterns in which CD34+SCs/TCs have (1) a fundamental pathophysiological role, including (a) fibrosing/sclerosing diseases, such as systemic sclerosis, with loss of CD34+SCs/TCs and presence of stromal cells co-expressing CD34 and αSMA, and (b) metabolic degenerative processes, including basophilic degeneration of collagen, with stromal cells/telocytes in close association with degenerative fibrils, and cutaneous myxoid cysts with spindle-shaped, stellate and bulky vacuolated CD34+ stromal cells, and (2) a secondary reactive role, encompassing dermatitis-e. Read More

View Article and Full-Text PDF