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Keratinocytic epidermal nevi associated with localized fibro‐osseous lesions without hypophosphatemia
Author(s) -
Mestach Lien,
Polubothu Satyamaanasa,
Calder Alistair,
Denayer Ellen,
Gholam Karolina,
Legius Eric,
Levtchenko Elena,
Van Laethem An,
Brems Hilde,
Kinsler Veronica A.,
Morren MarieAnne
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14254
Subject(s) - medicine , hypophosphatemia , pathology , hypophosphatemic rickets , dysplasia , fibrous dysplasia , nevus , rickets , hyperkeratosis , dermatology , vitamin d and neurology , cancer research , melanoma
Keratinocytic epidermal nevi (KEN) are characterized clinically by permanent hyperkeratosis in the distribution of Blaschko's lines and histologically by hyperplasia of epidermal keratinocytes. KEN with underlying RAS mutations have been associated with hypophosphatemic rickets and dysplastic bone lesions described as congenital cutaneous skeletal hypophosphatemia syndrome. Here, we describe two patients with keratinocytic epidermal nevi, in one associated with a papular nevus spilus, who presented with distinct localized congenital fibro‐osseous lesions in the lower leg, diagnosed on both radiology and histology as osteofibrous dysplasia, in the absence of hypophosphatemia or rickets, or significantly raised FGF23 levels but with distinct mosaic HRAS mutations. This expands the spectrum of cutaneous/skeletal mosaic RASopathies and alerts clinicians to the importance of evaluating for bony disease even in the absence of bone profile abnormalities.