MosaicNRASQ61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets

2016 ◽  
Vol 42 (1) ◽  
pp. 75-79 ◽  
Author(s):  
R. Ramesh ◽  
N. Shaw ◽  
E. K. Miles ◽  
B. Richard ◽  
I. Colmenero ◽  
...  
Keyword(s):  
Hypophosphataemic Rickets ◽  
Melanocytic Naevus ◽  
Epidermal Naevus Syndrome

scholarly journals Is congenital melanocytic naevus a link between Hirayama disease and moyamoya pattern: a new syndrome or a co-incidence?

2016 ◽  
pp. bcr2015212894
Author(s):  
Inder Puri ◽  
Deepti Vibha ◽  
Kameshwar Prasad ◽  
Rohit Bhatia
Keyword(s):  
Hirayama Disease ◽  
Melanocytic Naevus

A case of linear epidermal naevus presenting as genital warts – a cautionary tale

2005 ◽  
Vol 16 (3) ◽  
pp. 267-269
Author(s):  
M Mahto ◽  
J Ashworth ◽  
D M Vickers
Keyword(s):  
Unusual Case ◽  
Adult Life ◽  
Genital Warts ◽  
Definitive Treatment ◽  
Cautionary Tale ◽  
Surgical Ablation ◽  
Genital Area ◽  
Organ Systems ◽  
First Time ◽  
Epidermal Naevus Syndrome

Linear epidermal naevus (LEN) in the genital area is quite rare. It may present at birth or appear later on in life, in infancy or childhood and occasionally for the first time in adult life. There are several variants of epidermal naevi (EN), which, to the less experienced, can be mistaken for warts. When extensive, it can be associated with abnormalities in other organ systems (epidermal naevus syndrome). The definitive treatment of LEN is surgical ablation with excision of underlying dermis, but this frequently leads to scarring. Laser therapy is an alternative treatment modality and good results have been shown. We report an unusual case of LEN in the genital area in a 60-year-old man presenting as genital warts.

5. Chromosomal localisation of DNA probes for the hypophosphataemic rickets gene

Bone ◽  
1991 ◽  
Vol 12 (4) ◽  
pp. 288-288
Author(s):  
P.S.N. Rowe ◽  
Frances Benham ◽  
A.P. Read ◽  
R.V. Thakker ◽  
T. Kruse ◽  
...  
Keyword(s):  
Dna Probes ◽  
Hypophosphataemic Rickets ◽  
Chromosomal Localisation

(29) Giant melanocytic naevus with limb atrophy

1985 ◽  
Vol 113 (s29) ◽  
pp. 73-74 ◽  
Author(s):  
I.H. Coulson ◽  
R.A. Marsden
Keyword(s):  
Melanocytic Naevus

Congenital melanocytic naevus syndrome is caused by a post-zygotic mutation in codon 61 of NRAS, predisposing to melanoma development in affected tissues

The Lancet ◽  
2013 ◽  
Vol 381 ◽  
pp. S58
Author(s):  
Veronica A Kinsler ◽  
Anna C Thomas ◽  
Miho Ishida ◽  
Eugene Healy ◽  
Neil J Sebire ◽  
...  
Keyword(s):  
Melanocytic Naevus ◽  
Codon 61
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