Linear keratinocytic epidermal nevi on trunk skin caused by a somatic <i><scp>FGFR</scp>2</i> p.C382R mutation

Tanaka, Ryo; Umegaki‐Arao, Noriko; Sasaki, Takashi; Aoki, Seishiro; Yoshida, Kazue; Niizeki, Hironori; Kubo, Akiharu

doi:10.1111/1346-8138.14344

Cited by 4 publications

(2 citation statements)

References 5 publications

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“…More recently, the same FGFR2 p.Ser252Trp (c.755C>G; NM_000141) mutation has been identified in affected skin tissue of three unrelated patients with RAVEN, strongly supporting the pathogenic role of these mutations 3 . Tanaka 4 et al presented a case of congenital extensive linear keratinocytic epidermal nevi of the trunk and acral skin caused by a somatic FGFR2 p.Cys382Arg mutation, the same mutation identified in our patient. In addition, the same mutation has been identified in five cases of cerebriform sebaceous nevus on the scalp and none of these children had neurological issues 5 …”

Section: Discussionsupporting

confidence: 84%

Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation

Gracia‐Darder

Ramos

Giacaman

et al. 2022

Pediatric Dermatology

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Section: Discussionsupporting

confidence: 84%

Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation

Gracia‐Darder

Ramos

Giacaman

et al. 2022

Pediatric Dermatology

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“…This is the first report of the mosaic p.(Cys382Arg) FGFR2 TM domain mutation in living infants with cerebriform, papillomatous and pedunculated sebaceous nevi. It was initially reported in two fetuses with PPSN, 7 and although it has also been found in a keratinocytic EN of the trunk and limbs, with an unusual cobblestone pattern on the palms, 14 it appears fairly specific for this type of sebaceous nevus. The activating FGFR2 mutation p.(Val395Asp) identified in patient 3, which has not been reported in epidermal nevi so far, also affects the TM domain.…”

Section: Discussionmentioning

confidence: 89%

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

Theiler

Weibel

Christen‐Zaech

et al. 2021

Acad Dermatol Venereol

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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. Clinical and histological characteristics were assessed. Next‐generation sequencing was used to assess for FGFR2 mutations. Results All nevi were located on the head, with a rounded or linear shape and a typical cerebriform, sometimes papillomatous and pedunculated, surface. No associated extracutaneous anomalies were found. Nevi harboured postzygotic mutations in the transmembrane domain of FGFR2 in 6/8 children (75%), either the known specific p.(Cys382Arg) mutation in 5 cases, or a novel mutation, p.(Val395Asp), in one. Conclusions We found an exquisite genotype–phenotype correlation in these rare nevi, with specific postzygotic mutations in the transmembrane domain of FGFR2. As not all lesions were truly papillomatous and pedunculated, the term cerebriform sebaceous nevus (CSN) appears more suitable than PPSN to describe this entity. The cerebriform pattern of CSN is reminiscent of cutis gyrata, as seen in Beare–Stevenson syndrome, which is caused by closely related germline FGFR2 mutations. While clinically impressive, CSN seem to carry a good prognosis and a low risk for extracutaneous associations.

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Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3

Saito¹,

Tanaka²,

Sasaki

et al. 2019

The Journal of Dermatology

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Linear keratinocytic epidermal nevi on trunk skin caused by a somatic FGFR2 p.C382R mutation

Cited by 4 publications

References 5 publications

Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation

Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation

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

Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3

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