Large, papillomatous and pedunculated nevus sebaceus

Lin, Hung Chien; Lee, J. Yu Yun; Shieh, Shyh Jou; Hsu, Chao‐Kai

doi:10.1111/j.1346-8138.2010.00957.x

Cited by 10 publications

(9 citation statements)

References 7 publications

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“…None of the patients showed any associated abnormalities. In 2011, Lin et al [ 9 ] reported a case of a 1-day-old full-term baby boy with a large tumor on the left parietal scalp at birth. Examination revealed a large soft, pedunculated, hairless, cerebriform tumor.…”

Section: Discussionmentioning

confidence: 99%

Large Papillomatous and Pedunculated Nevus Sebaceous

Ubol

Aunhachoke

2015

Case Rep Dermatol

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Section: Discussionmentioning

confidence: 99%

Large Papillomatous and Pedunculated Nevus Sebaceous

Ubol

Aunhachoke

2015

Case Rep Dermatol

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“…in three neonates and by Lin et al . in another neonate . Our case emphasizes the crucial role of US performed with high‐frequency probes, which revealed associated diffuse lesions of the face, whereas only large exophytic lesions of the scalp were visible on US with low‐frequency probes.…”

Section: Discussionmentioning

confidence: 58%

“…Our diagnostic suspicion was based on the great similarity of the sonographic appearance of these lesions with the description by Correale et al 1 in three neonates and by Lin et al in another neonate. 2 Our case emphasizes the crucial role of US performed with high-frequency probes, which revealed associated diffuse lesions of the face, whereas only large exophytic lesions of the scalp were visible on US with lowfrequency probes. Identification of such a facial involvement had a dramatic prognostic impact.…”

Section: Case Reportmentioning

confidence: 56%

“…No other anomalies were noted, and the fetal biometry was appropriate for gestational age. The appearance of the tumors was compared with previously published cases of tumors of the scalp in neonates, as we were unable to find any similar case reported in the prenatal literature. Our case presented morphological characteristics that were very similar to exophytic nevus sebaceous (NS) described in neonates.…”

Section: Case Reportmentioning

confidence: 99%

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Prenatal diagnosis of exophytic nevus sebaceous of the scalp

et al. 2013

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Nevus sebaceous is a complex hamartoma most commonly found on the scalp, face, and neck and is often present at birth, although some may be diagnosed later in infancy. We report the first prenatal diagnosis of isolated nevus sebaceous that presented at 19 weeks' gestation as a large and exophytic tumor of the scalp. This case emphasizes the crucial role of ultrasound examination performed with high-frequency probes, which revealed associated diffuse lesions of the face. Identification of such a facial involvement could have a dramatic prognostic impact.

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“…A rare subtype of exophytic sebaceous nevus has occasionally been described, with the denomination of ‘papillomatous, pedunculated sebaceous nevus (PPSN) 3 ’ or ‘cerebriform sebaceous nevus (CSN)’ 4 . Since the first report in 1991, 5 few additional cases have been published 6–13 . We previously found a novel postzygotic mutation in the transmembrane (TM) domain of FGFR2 in two fetuses with PPSN diagnosed post mortem 7 .…”

Section: Introductionmentioning

confidence: 99%

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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Large, papillomatous and pedunculated nevus sebaceus

Cited by 10 publications

References 7 publications

Large Papillomatous and Pedunculated Nevus Sebaceous

Large Papillomatous and Pedunculated Nevus Sebaceous

Prenatal diagnosis of exophytic nevus sebaceous of the scalp

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

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