Large Papillomatous and Pedunculated Nevus Sebaceous

Ubol, Taksaorn; Aunhachoke, Kobkul

doi:10.1159/000441249

Cited by 4 publications

(2 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To date, unlike in patients with classic sebaceous nevi, no extracutaneous associations have been described in patients with CSN, 3–6,8–13 which is in accordance with our own findings. Whether CSN have a tendency to develop secondary benign and malignant neoplasms, as in classic sebaceous nevi, 20 remains unclear, as most reported lesions, including our own, were excised early in life 3–6,8–13 . To the best of our knowledge, we report for the first time the occurrence of a CSN associated with another neoplasm (SCAP).…”

Section: Discussionsupporting

confidence: 91%

“…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%

See 1 more Smart Citation

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

Theiler

Weibel

Christen‐Zaech

et al. 2021

Acad Dermatol Venereol

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 91%