Epidermal Nevus

Congenital lesions that affect about 1 in 1,000 people and appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko (normally invisible lines of cell development in the skin that follow a "V" shape over the back, "S" shaped whirls over the chest, and sides, and wavy shapes on the head.). They can result from post-zygotic, somatic mutations in the KRAS, HRAS, NRAS, FGFR3, or PIK3CA genes. OMIM: 162900

Also Known As:

Networked: 57 relevant articles (4 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypophosphatemic Rickets
2.	Cicatrix (Scar)
3.	Acne Vulgaris
4.	Xeroderma Pigmentosum (Kaposi's Disease)
5.	Melanosis (Freckles)

Experts

1.	Moss, C: 3 articles (01/2017 - 06/2006)
2.	Bessis, D: 1 article (05/2022)
3.	Chenine, L: 1 article (05/2022)
4.	Coubes, C: 1 article (05/2022)
5.	Malinge, M-C: 1 article (05/2022)
6.	Meyer, P: 1 article (05/2022)
7.	Roubertie, A: 1 article (05/2022)
8.	Secco, L-P: 1 article (05/2022)
9.	Beyens, Aude: 1 article (04/2022)
10.	Brems, Hilde: 1 article (04/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Epidermal Nevus:

1.	burosumabIBA 12/01/2022 - "We studied the effect of Burosumab treatment in a single pediatric patient with Epidermal Nevus Syndrome. " 12/01/2022 - "A case report to assess the safety and efficacy of Burosumab, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome and associated hypophosphatemic rickets." 04/01/2018 - "Burosumab is also being evaluated in the phase II setting in adults with tumour-induced osteomalacia and epidermal nevus syndrome in the USA, as well as in Japan and Korea. "
2.	apremilastIBA 08/01/2023 - "This is the first documented case of successful VEN treatment with apremilast, highlighting its potential efficacy in treating verrucous epidermal naevus. "
3.	AS 35IBA 01/01/2001 - "Thirty-one patients with melasma, 4 with superficial post acne scarring and one each with xeroderma pigmentosum and epidermal naevus were studied to know the efficacy of glycolic acid for chemical peeling in varying concentrations and time intervals such as 35% (4 minutes), 52.5% (3 minutes), 70% (2 minutes) at varying intervals upto 6 months. "
4.	glycolic acid (glycolate)IBA 01/01/2001 - "Thirty-one patients with melasma, 4 with superficial post acne scarring and one each with xeroderma pigmentosum and epidermal naevus were studied to know the efficacy of glycolic acid for chemical peeling in varying concentrations and time intervals such as 35% (4 minutes), 52.5% (3 minutes), 70% (2 minutes) at varying intervals upto 6 months. "
5.	trans-sodium crocetinate (crocetin)IBA 07/01/2023 - "White epidermal nevus may be yet another dermatological finding that may aid in the early diagnosis of TSC." 07/01/2023 - "We report a cohort of neonates who presented with a novel finding of white epidermal nevus and were eventually diagnosed with TSC. " 05/01/2014 - "We suggest that physicians consider TSC in a neonate with epidermal nevi inconsistent with any described epidermal nevus syndrome." 12/01/2022 - "Further case reports and molecular genetic studies are needed to determine the link between epidermal nevus, vascular malformations, keratosis pilaris and TSC."
6.	Ointments (Pastes)IBA 05/01/2013 - "Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment." 05/01/2013 - "We recommend a trial of topical calcipotriol/betamethasone dipropionate ointment for patients with extensive epidermal nevus not amenable to surgical treatment."
7.	Codon (Codons)IBA 04/06/2022 - "This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 KRAS variants in an individual with OES and, for the first time, in an individual with (isolated) epidermal nevus. " 04/06/2022 - "The identification of codon 146 KRAS variants in isolated epidermal nevus introduces a new hot spot for this condition, which is useful for increasing molecular genetic testing using targeted gene sequencing panels." 04/06/2022 - "Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies."
8.	calcipotriene (calcipotriol)FDA LinkGeneric 05/01/2013 - "Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment." 05/01/2013 - "We recommend a trial of topical calcipotriol/betamethasone dipropionate ointment for patients with extensive epidermal nevus not amenable to surgical treatment."
9.	betamethasone-17,21-dipropionate (betamethasone dipropionate)FDA LinkGeneric 05/01/2013 - "We recommend a trial of topical calcipotriol/betamethasone dipropionate ointment for patients with extensive epidermal nevus not amenable to surgical treatment."
10.	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 10/01/2017 - "Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation." 06/01/2007 - "We report an activating fibroblast growth factor receptor 3 (FGFR3) mutation (R248C) occurring in a verrucous epidermal naevus, and not found in other tissues, in a girl with mild facial dysmorphism. " 06/01/2007 - "Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism." 01/01/2014 - "Garcia-Hafner-Happle syndrome, also known as Fibroblast growth factor receptor 3 epidermal nevus syndrome, is a new neurocutaneous phenotype, which has been identified in 2008 by Garcı'a-Vargas et al. The disorder is caused by a mosaic R248C mutation of the FGFR3 gene, which is characterized by a keratinocytic epidermal nevus, acanthosis nigricans, and neurological abnormalities like seizures, intellectual impairment, cortical atrophy, and underdevelopment of corpus callosum. " 07/01/2010 - "By contrast, the group of syndromes characterized by keratinocytic nevi comprises three phenotypes with a known molecular etiology in the form of CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, type 2 segmental Cowden disease, and fibroblast growth factor receptor 3 epidermal nevus syndrome (García-Hafner-Happle syndrome), whereas Proteus syndrome is still of unknown origin. "

Therapies and Procedures

1.	Lasers (Laser) 01/01/2015 - "Nd:YAG Q-switched laser for the treatment of a hemicorporal epidermal nevus: A safe and effective option." 12/01/2020 - "Bicentric, retrospective, cohort study, including all patients treated with a laser for an epidermal nevus with more than a 1-year follow-up. " 12/01/2020 - "Seventy patients were treated for different types of epidermal nevi, mostly with ablative lasers: 23 verrucous epidermal nevi, 16 nevi sebaceous, 26 Becker nevi, 2 inflammatory linear verrucous epidermal nevi, 1 smooth-muscle hamartoma, 1 rounded and velvety epidermal nevus, and 1 nevus lipomatosus superficialis. " 09/01/1999 - "A summary of laser treatments for pigmented lesions that commonly present in children including café-au-lait macules, nevus of Ota and other dermal melanocytosis, congenital melanocytic nevus, nevus spilus, lentigines, epidermal nevus, Becker's nevus, and tattoos is presented. " 01/01/2022 - "Further recommendations focus on the treatment of skin lesions without an increased amount of melanocytes (ephelides, postinflammatory hyperpigmentation including berloque dermatitis, seborrheic keratoses, traumatic/decorative tattoos and metallic deposits), hypopigmentation (vitiligo), benign non-pigmented neoplasms (fibrous papule of the nose, nevus sebaceus, epidermal nevus, neurofibroma, sebaceous gland hyperplasia, syringoma, xanthelasma palpebrarum), inflammatory dermatoses (acne papulopustulosa/conglobata, acne inversa, granuloma faciale, lichen sclerosus, lupus erythematosus, psoriasis vulgaris, rosacea, rhinophyma), wrinkles/dermatochalasis/striae, hypertrichosis, scars (atrophic, hypertrophic; keloids, burn/scald scars), laser-assisted skin healing, onychomycosis, precancerous lesions and malignant tumors (actinic keratoses/field cancerization, cheilitis actinica, basal cell carcinoma), vascular skin lesions (angiokeratoma, angioma, hemangioma, malformation, spider veins, granuloma telangiectaticum (pyogenic granuloma), rubeosis (erythrosis interfollicularis colli, ulerythema ophryogenes), nevus flammeus, telangiectasias and Osler's disease (hereditary hemorrhagic telangiectasia) and viral skin lesions (condylomata acuminata, mollusca contagiosa, verrucae planae juveniles/vulgares/ verrucae palmares et plantares)."
2.	Solid-State Lasers 01/01/2015 - "We present the case of a 3-year-old patient with a hemicorporal epidermal nevus treated with Nd:YAG laser at an early stage with good results. " 01/01/2017 - "Er:YAG laser treatment of epidermal nevus syndrome." 08/01/1995 - "We studied 5 cases of epidermal nevus treated with the pulsed ruby laser. " 08/01/1995 - "Successful treatment of dark-colored epidermal nevus with ruby laser." 08/01/1995 - "Despite of the risk of discoloration, the ruby laser is one of the most effective tools for therapy of pigmented epidermal nevus."
3.	Gas Lasers 09/01/2021 - "Epidermal nevus in blaschkoid distribution treated with dual-wavelength copper vapor laser." 10/01/2016 - "Here, we present three clinical cases of epidermal nevus treated with CO2 laser. " 02/01/2015 - "A diagnosis of systematised epidermal nevus in the absence of epidermal nevus syndrome was diagnosed and the patient was asked to undergo carbon dioxide laser mediated destruction of the skin lesions. " 01/01/1995 - "A patient with a widespread, recurrent, biopsy-proven epidermal nevus was treated with a 10,600-nm CO2 laser. " 01/01/1995 - "Here we report the case of a widespread, life-impairing epidermal nevus, summarize the available treatment modalities, and discuss CO2 laser therapy with respect to the clinically soft variants of these developmental defects. "
4.	Therapeutics 08/01/1995 - "Despite of the risk of discoloration, the ruby laser is one of the most effective tools for therapy of pigmented epidermal nevus." 01/01/1995 - "Here we report the case of a widespread, life-impairing epidermal nevus, summarize the available treatment modalities, and discuss CO2 laser therapy with respect to the clinically soft variants of these developmental defects. " 01/01/1995 - "Carbon dioxide laser therapy of a widespread epidermal nevus." 01/01/2022 - "Topical sirolimus therapy for nevus sebaceus and epidermal nevus: A case series." 07/01/2019 - "Topical sirolimus therapy for epidermal nevus with features of acanthosis nigricans."
5.	Tattooing 09/01/1999 - "A summary of laser treatments for pigmented lesions that commonly present in children including café-au-lait macules, nevus of Ota and other dermal melanocytosis, congenital melanocytic nevus, nevus spilus, lentigines, epidermal nevus, Becker's nevus, and tattoos is presented. " 01/01/2022 - "Further recommendations focus on the treatment of skin lesions without an increased amount of melanocytes (ephelides, postinflammatory hyperpigmentation including berloque dermatitis, seborrheic keratoses, traumatic/decorative tattoos and metallic deposits), hypopigmentation (vitiligo), benign non-pigmented neoplasms (fibrous papule of the nose, nevus sebaceus, epidermal nevus, neurofibroma, sebaceous gland hyperplasia, syringoma, xanthelasma palpebrarum), inflammatory dermatoses (acne papulopustulosa/conglobata, acne inversa, granuloma faciale, lichen sclerosus, lupus erythematosus, psoriasis vulgaris, rosacea, rhinophyma), wrinkles/dermatochalasis/striae, hypertrichosis, scars (atrophic, hypertrophic; keloids, burn/scald scars), laser-assisted skin healing, onychomycosis, precancerous lesions and malignant tumors (actinic keratoses/field cancerization, cheilitis actinica, basal cell carcinoma), vascular skin lesions (angiokeratoma, angioma, hemangioma, malformation, spider veins, granuloma telangiectaticum (pyogenic granuloma), rubeosis (erythrosis interfollicularis colli, ulerythema ophryogenes), nevus flammeus, telangiectasias and Osler's disease (hereditary hemorrhagic telangiectasia) and viral skin lesions (condylomata acuminata, mollusca contagiosa, verrucae planae juveniles/vulgares/ verrucae palmares et plantares)."