Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism

Collin, B; Taylor, Indira B.; Moss, Celia

doi:10.1111/j.1365-2133.2007.07869.x

Cited by 23 publications

(13 citation statements)

References 19 publications

(35 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Further complicating clinical correlation, KEN are less common on the head and neck than nevus sebaceus (NS), although KEN and NS can have the same HRAS mutation, suggesting that location may also influence phenotype. A higher density of sebaceous glands on the head and neck may provide more opportunities for RAS to direct hamartomatous sebaceous development, yet genotype can be enlightening; for example, identical RAS mutations in KEN and NS also account for the fact that many of the extracutaneous manifestations of a subset of syndromic KEN are similar to those seen in NS syndrome (skeletal, ocular, and central nervous system [CNS] abnormalities) …”

Section: Associations With Specific En Syndromesmentioning

confidence: 99%

Epidermal nevus syndromes: New insights into whorls and swirls

Asch

Sugarman

2017

Pediatric Dermatology

View full text Add to dashboard Cite

Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous-skeletal hypophosphatemia syndrome. We will discuss how newly defined mutations relate to the biology reflected in the cutaneous patterns seen in these mosaic disorders and how new molecular data has informed our understanding of these diseases and shaped management decisions. We will discuss the more well-delineated EN and ENS, including keratinocytic EN, nevus sebaceus, nevus comedonicus (NC), congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus (PAON), inflammatory linear verrucous EN (ILVEN), and the newly described cutaneous-skeletal hypophosphatemia syndrome (CSHS). We will examine advances in the genetics of these disorders and highlight promising work in the translation to management for our patients. We will also briefly discuss less well-defined EN and ENS associated with overgrowth syndromes.

show abstract

Section: Associations With Specific En Syndromesmentioning

confidence: 99%

Epidermal nevus syndromes: New insights into whorls and swirls

Asch

Sugarman

2017

Pediatric Dermatology

View full text Add to dashboard Cite

show abstract

“…The R248C mutation was found in the epidermal nevus and in the blood, but was absent from normal skin (somatic mutation). The same FGFR3 mutation (R248C) was found in keratinocytes cultured from EN of a girl with mild facial dysmorphism [47]. Mutations could not be demonstrated in blood, buccal brushings or hair roots.…”

Section: Fgfr3 Mutations: Different Consequences Of Germline Versus Smentioning

confidence: 86%

<i>FGFR3</i> Mutations and the Skin: Report of a Patient with a <i>FGFR3</i> Gene Mutation, Acanthosis Nigricans, Hypochondroplasia and Hyperinsulinemia and Review of the Literature

Blomberg

Jeppesen²,

Skovby³

et al. 2010

Dermatology

View full text Add to dashboard Cite

Fibroblast growth factor receptor 3 (FGFR3) gene mutations in the germline are well-known causes of skeletal syndromes. Somatic FGFR3 mutations have been found in malignant neoplasms and more recently in several cutaneous elements. We present a 14-year-old girl with mild hypochondroplasia who developed acanthosis nigricans. The report of a K650Q mutation in the FGFR3 gene in a similar case prompted us to conduct a point mutation analysis. The K650Q mutation was confirmed, but in contrast to the previous case, we additionally report findings of hyperinsulinemia. In the recent literature, an increasing number of different cutaneous elements have been found to harbor mutations of FGFR3, suggesting that FGFR3 plays a role in the pathogenesis of these elements. We review the present literature, describing studies in which FGFR3 mutations have been investigated in skin lesions: primarily seborrheic keratoses and epidermal nevi, but also other benign skin tumors and a single case of a squamous cell carcinoma. In addition, an overview of the FGFR3 point mutations in relation to each cutaneous element is given. Based on the current knowledge, it seems likely that these cutaneous lesions have a common genetic background. Our case shows that FGFR3 mutation analysis should be considered in case of the coexistence of acanthosis nigricans and a skeletal dysplasia. Testing for hyperinsulinemia is essential, also if a gene mutation is confirmed.

show abstract

“…Mild facial dysmorphism has been described in a case with FGFR3 mutation. [7] Patients with hemihypertrophy of face usually are reported to have cortical defects like hemimegalencephaly, focal cortical dysplasia, and neuronal migration defects like pachygyria and polymicrogyria heterotopias in the affected hemisphere. [3] Our patient had an epidermal nevus with hemihypertrophy of face with no other abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Late onset epidermal nevus with hypertrichosis and facial hemihypertrophy

et al. 2014

View full text Add to dashboard Cite

Epidermal nevus syndromes are rare conditions, characterized by different types of keratinocytic or organoid epidermal nevi in association with ocular, neurological, and skeletal manifestations. We present a case of late onset epidermal nevus with hypertrichosis and hemihypertrophy of face. Genetic analysis did not reveal presence of FGFR3 or PIK3CA mutations. The patient has features that cannot be categorized into the present well-known syndromes.

show abstract

Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism

Cited by 23 publications

References 19 publications

Epidermal nevus syndromes: New insights into whorls and swirls

Epidermal nevus syndromes: New insights into whorls and swirls

<i>FGFR3</i> Mutations and the Skin: Report of a Patient with a <i>FGFR3</i> Gene Mutation, Acanthosis Nigricans, Hypochondroplasia and Hyperinsulinemia and Review of the Literature

Late onset epidermal nevus with hypertrichosis and facial hemihypertrophy

Contact Info

Product

Resources

About