Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy.
J Am Acad Dermatol
; 75(2): 420-7, 2016 Aug.
Article
em En
| MEDLINE
| ID: mdl-27444071
ABSTRACT
BACKGROUND:
We recently demonstrated multilineage somatic mosaicism in cutaneous skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic nevi, elevated fibroblast growth factor (FGF)-23, and hypophosphatemia, finding identical RAS mutations in affected skin and bone.OBJECTIVE:
We sought to (1) provide an updated overview of CSHS; (2) review its pathobiology; (3) present a new patient with CSHS; and (4) discuss treatment modalities.METHODS:
We searched PubMed for "nevus AND rickets," and "nevus AND hypophosphatemia," identifying cases of nevi with hypophosphatemic rickets or elevated serum FGF-23. For our additional patient with CSHS, we performed histopathologic and radiographic surveys of skin and skeletal lesions, respectively. Sequencing was performed for HRAS, KRAS, and NRAS to determine causative mutations.RESULTS:
Our new case harbored somatic activating HRAS p.G13 R mutation in affected tissue, consistent with previous findings. Although the mechanism of FGF-23 dysregulation is unknown in CSHS, interaction between FGF and MAPK pathways may provide insight into pathobiology. Anti-FGF-23 antibody KRN-23 may be useful in managing CSHS.LIMITATIONS:
Multilineage RAS mutation in CSHS was recently identified; further studies on mechanism are unavailable.CONCLUSION:
Patients with nevi in association with skeletal disease should be evaluated for serum phosphate and FGF-23. Further studies investigating the role of RAS in FGF-23 regulation are needed.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Osteomalacia
/
Neoplasias Cutâneas
/
Genes ras
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Raquitismo Hipofosfatêmico
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Mosaicismo
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Nevo Pigmentado
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article