M Theiler, L Weibel, S Christen-Zaech, V Carmignac, A Sorlin, K Neuhaus, M Chevarin, C Thauvin-Robinet, C Philippe, L Faivre, P Vabres, P Kuentz
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 pediatric dermatology centers in Switzerland and France were included in this case series...
April 30, 2021: Journal of the European Academy of Dermatology and Venereology: JEADV
Jonathan C Slack, Marie-Anne Bründler, Caitlin A Chang, Renee Perrier, Lucie Lafay-Cousin, Kyle C Kurek
Mosaic RASopathies are an emerging group of disorders characterized by mosaic or post-zygotic activating mutations in genes of the RAS/MAPKinase signaling pathway. The phenotype is highly variable, ranging from limited or localized forms to cases with a syndromic presentation with extensive or multiorgan involvement, and also overlaps with other mosaic disorders. While there are several reports of malignancies in patients with mosaic RASopathies, specifically rhabdomyosarcoma and transitional urothelial carcinoma, the lifetime risk and molecular mechanisms that lead to the development of malignancies remain unclear...
February 4, 2021: Pediatric and Developmental Pathology
Andrea De Vito, Ajay Taranath, Hisham Dahmoush, Shankar Srinivar Ganapathy, Sniya Sudhakar, Kshitij Mankad
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.
January 2021: Quantitative Imaging in Medicine and Surgery
Reiva Farah Dwiyana, Maryam Nissa Hazari, Inne Arline Diana, Srie Prihianti Gondokaryono, Raden Mohamad Rendy Ariezal Effendi, Hendra Gunawan
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. A 2-year-old girl presented with large, hairless, yellowish-brown plaques on the scalp and face along with multiple brownish-black verrucose plaques and brownish-black macules on almost all parts of the body...
September 2020: Case Reports in Dermatology
A Badawi, M A Osman, A N Kassab
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. Histologically, elongated, dendritic melanocytes are seen scattered mainly throughout the upper third of reticular dermis...
December 2020: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
Matthias Christen, Michaela Austel, Frane Banovic, Vidhya Jagannathan, Tosso Leeb
Loss-of-function variants in the NSDHL gene have been associated with epidermal nevi in humans with congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome and in companion animals. The NSDHL 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. All exons of the NSDHL candidate gene were amplified by PCR and analyzed by Sanger sequencing...
October 30, 2020: Genes
Mustufa Jafry, Robert Sidbury
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. Mosaic RASopathies can present as localized cutaneous lesions like epidermal nevi and nevus sebaceous, or more extensive conditions such as encephalocraniocutaneous lipomatosis. We review the heterogenous presentation of RAS mutations, discuss new targeted therapies, and highlight areas of uncertainty, including carcinogenesis risk and appropriate screening...
July 2020: Clinics in Dermatology
Martino Ruggieri, Agata Polizzi, Gioacchino Paolo Marceca, Stefano Catanzaro, Andrea D Praticò, Concezio Di Rocco
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. brain, heart and kidneys) (1932) and (b) to other disorders (i.e. von Hippel-Lindau disease and Sturge-Weber syndrome) (1933), and coined the term phakomatoses. At the same time, the American neurologist Paul Ivan Yakovlev and psychiatrist Riley H...
October 2020: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Chané Nel, André Uys, Liam Robinson, Willie F P van Heerden
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. Multiple AOTs have also been described in association with Schimmelpenning syndrome. This case report highlights the rare occurrence of multiple AOTs involving eight impacted teeth in a 9-year-old male patient...
August 7, 2020: Oral Radiology
Sonia E Reyes-Meza, Elizabeth Guevara-Gutiérrez, Guadalupe Villanueva-Quintero, Socorro Hernández-Arana, Alberto Tlacuilo-Parra
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. Two of the cases received, with good response, treatment based on topical calcipotriol, a medication not previously reported to be used for this indication. Contrary to other types of acanthosis nigricans, the nevoid acanthosis nigricans is not associated with any syndrome, endocrinopathy, obesity, medication, or neoplasia and it can be confused with other pathologies such as epidermal nevus or dermatosis neglecta...
June 1, 2020: Indian Journal of Dermatology, Venereology and Leprology
Alpesh Goyal, Nishikant Damle, Devasenathipathy Kandasamy, Rajesh Khadgawat
No abstract text is available yet for this article.
March 2020: Indian Journal of Endocrinology and Metabolism
Miguel Angel De Los Santos-La Torre, Carlos Manuel Del Águila-Villar, Luis Rómulo Lu-de Lama, Oswaldo Nuñez-Almache, Eliana Manuela Chávez-Tejada, Oscar Antonio Espinoza-Robles, Paola Marianella Pinto-Ibárcena, Martha Rosario Calagua-Quispe
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. We report the case of a 1-year-5-month-old girl who presented to the Endocrinology and Metabolism Department with breast enlargement that began at one year of age, growth of pubic and axillary hair three months later, and vaginal bleeding that occurred five months later...
2020: Case Reports in Endocrinology
Lien Mestach, Satyamaanasa Polubothu, Alistair Calder, Ellen Denayer, Karolina Gholam, Eric Legius, Elena Levtchenko, An Van Laethem, Hilde Brems, Veronica A Kinsler, Marie-Anne Morren
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...
July 14, 2020: Pediatric Dermatology
Laura Damian, Andrei Lebovici, Cristina Pamfil, Cristina Belizna, Romana Vulturar
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 PIK3CA -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...
July 9, 2020: Diagnostics
Z Q Ye, W G Xie, X B Lu, X Chen, C L Zhao, Q F Ruan, W Zhang
Objective: To investigate the causes of death and etiological characteristics of skin tissue donors, and to provide reference for allogeneic skin transplantation. Methods: 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). The sex and death age of 49 donors were recorded, and the death age between different sex donors and that of donors between accidental death group and non-accidental death group were compared...
June 20, 2020: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
F Leuthard, G Lehner, V Jagannathan, T Leeb, M Welle
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. We performed a candidate gene analysis in the affected animal...
October 1, 2019: Animal Genetics
Hazem A Juratli, Arne König, Rudolf Happle
The CHILD nevus represents a hallmark of CHILD syndrome [congenital hemidysplasia with ichthyosiform nevus and limb defects, MIM: 308050]. This X-linked dominant, male-lethal disorder is caused by NSDHL mutations blocking the cholesterol pathway.1 The CHILD nevus can be distinguished from other epidermal nevi by the presence of ptychotropism, waxy yellow scaling, and a conspicuous lateralization pattern showing either diffuse involvement or linear lesions or both.2 Most of the light microscopical features are indistinguishable from those of psoriasis, including exocytosis of neutrophils that form superficial accumulations reminiscent of Munro abscesses...
September 9, 2019: Journal of the European Academy of Dermatology and Venereology: JEADV
Eric Chen, Anthony J Chiaravalloti, Justin Finch
Breast hypoplasia has been reported in some epidermal nevus syndromes, but not with a keratinocytic epidermal nevus. Herein, we describe the first case of breast hypoplasia associated with a keratinocytic epidermal nevus. Keratinocytic epidermal nevi have been shown to be associated with somatic mutations in FGFR3, PIK3CA , and HRAS. We hypothesize that hypoplasia may be due to a local mutation in the FGFR3 gene or increased androgen receptors in affected breast tissue. The patient was treated with CO2 laser with good cosmetic outcome...
July 2019: International Journal of Women's Dermatology
Saede Atarbashi-Moghadam, Fazele Atarbashi-Moghadam, Soran Sijanivandi, Sepideh Mokhtari
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. An electronic search in PubMed Central's database was performed. The search strategy was limited to human studies (case reports and case series), full-text English articles published from first of January 1975 until the end of 2018...
July 20, 2019: Journal of Stomatology, Oral and Maxillofacial Surgery
Vikram K Mahajan, Mrinal Gupta, Pushpinder Chauhan, Karaninder S Mehta
CLOVES syndrome characterized by C ongenital L ipomatous O vergrowth, V ascular malformations, E pidermal nevi, and S keletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in PIK3CA . 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...
July 2019: Indian Dermatology Online Journal
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