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

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 pediatric dermatology centers in Switzerland and France were included in this case series. Clinical and histological…

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Naevus épidermique cérébriforme associé à FGFR2 : élargissement du spectre du naevus sébacé papillomateux et pédonculé

Introduction Des mutations postzygotiques de FGFR2 ont ete identifiees dans des formes d’acne en mosaique, dans le naevus epidermique keratinocytaire, l’acanthosis nigricans naevoide ou RAVEN (rounded and velvety epidermal nevus) et le naevus sebace papillomateux et pedoncule (NSPP) [1] . Objectifs Determiner les caracteristiques cliniques et genetiques du NSPP et d’une forme de naevus epidermique cerebriforme (NEC), proches sur le plan clinique. Patients et methodes Nourrissons diagnostiques avec des NSPP et NEC sur une periode de 10 ans (2010-2019) dans deux centres de dermatologie pediatrique en Suisse et en France. Les caracteristiques cliniques et histologiques ont ete evaluees. Le seq…

Expanding the clinical spectrum of mosaic BRAF skin phenotypes

BRAF postzygotic activating mutations have been found in 50% of cases of syringocystadenoma papilliferum (SCAP)1 and in phacomatosis pigmentokeratotica (PPK)2,3 , also possibly caused by HRAS4 mutations. BRAF is a RAS-activating serine/threonine kinase of the MAP kinase pathway, resulting in cell growth and proliferation. BRAF mutations, particularly p.(Val600Glu), are frequently identified in melanoma and other human cancers5 . We report clinical presentations of three patients with postzygotic BRAF mutations in affected skin, identified by next generation sequencing (NGS).