Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome

D Carli, S Cardaropoli, D Tessaris… - Genes …, 2022 - Wiley Online Library
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is caused by somatic mosaic
NRAS variants and characterized by melanocytic/sebaceous naevi, eye, and brain …

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy

YH Lim, D Ovejero, KM Derrick, MT Collins… - Journal of the American …, 2016 - Elsevier
Background We recently demonstrated multilineage somatic mosaicism in cutaneous
skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic …

Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets

R Ramesh, N Shaw, EK Miles, B Richard… - Clinical and …, 2017 - academic.oup.com
The association of hypophosphataemic rickets with verrucous epidermal naevus (EN) and
elevated fibroblast growth factor 23 levels is known as cutaneous–skeletal …

Cutaneous skeletal hypophosphatemia syndrome in association with a mosaic HRAS mutation

PG Park, E Park, HS Hyun, HG Kang… - Annals of Clinical & …, 2018 - Assoc Clin Scientists
Recent molecular genetic studies have revealed that Schimmelpenning-Feuerstein-Mims
syndrome (SFMS), which presents as sebaceous nevi, is a mosaic RASopathy caused by …

[HTML][HTML] Burosumab treatment in a child with cutaneous skeletal hypophosphatemia syndrome: a case report

M Khadora, MZ Mughal - Bone Reports, 2021 - Elsevier
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare disorder caused by
somatic mosaicism for the gain of function RAS mutations. Affected patients have segmental …

Keratinocytic epidermal nevi associated with localized fibro‐osseous lesions without hypophosphatemia

L Mestach, S Polubothu, A Calder… - Pediatric …, 2020 - Wiley Online Library
Keratinocytic epidermal nevi (KEN) are characterized clinically by permanent hyperkeratosis
in the distribution of Blaschko's lines and histologically by hyperplasia of epidermal …

Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

D Ovejero, YH Lim, AM Boyce, RI Gafni… - Osteoporosis …, 2016 - Springer
Cutaneous skeletal hypophosphatemia syndrome (CSHS), caused by somatic RAS
mutations, features excess fibroblast growth factor-23 (FGF23) and skeletal dysplasia …

[HTML][HTML] A case report: first long-term treatment with burosumab in a patient with cutaneous-skeletal hypophosphatemia syndrome

LM Merz, F Buerger, N Ziegelasch, M Zenker… - Frontiers in …, 2022 - frontiersin.org
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic
disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and …

[HTML][HTML] Murine models of HRAS-mediated cutaneous skeletal hypophosphatemia syndrome suggest bone as the FGF23 excess source

D Ovejero, Z Michel, C Cataisson… - The Journal of …, 2023 - Am Soc Clin Investig
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy
characterized by the association of dysplastic skeletal lesions, congenital skin nevi of …

Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome

A Welfringer‐Morin, G Pinto, G Baujat… - Pediatric …, 2020 - Wiley Online Library
We report the case of a child who presented with a giant melanocytic nevus with numerous
satellite nevi at birth and developed hypophosphatemic rickets due to excessive secretion of …