Mestach, L;
Polubothu, S;
Calder, A;
Denayer, E;
Gholam, K;
Legius, E;
Levtchenko, E;
... Morren, M-A; + view all
(2020)
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Pediatric Dermatology
, 37
(5)
pp. 890-895.
10.1111/pde.14254.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/pde.14254 |
| Publisher version: | https://doi.org/10.1111/pde.14254 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | epidermal naevus, naevus spilus, phakomatosis pigmentokeratotica, HRAS, osteofibrous dysplasia, RASopathy, hypophosphatemia, mosaic |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10109765 |
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