Document Detail

An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.
MedLine Citation:
PMID:  18642369     Owner:  NLM     Status:  MEDLINE    
A 5-year-old Mexican girl had a bilateral, systematized epidermal nevus of a non-epidermolytic, non-organoid type covering large parts of her body with the exception of the scalp. Clinically, this nevus was of a soft, velvety type showing affinity to the large body folds. Histopathological examination revealed orthohyperkeratosis and papillomatosis without granular degeneration and without any abnormality of adnexal structures. During infancy she developed seizures, and subsequently a delayed mental development was noted. Computer tomography of the brain revealed cortical and subcortical atrophy, a subdural hygroma in the left frontoparietotemporal region, and hypoplasia of corpus callosum. Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. The R248C mutation was also present in DNA extracted from blood leukocytes. Because FGFR3 is involved in the development of the central nervous system, the clinical and genetic findings of this case indicate a widespread mosaicism of the FGFR3 mutation. This unusual mosaic phenotype may represent a distinct entity within the group of epidermal nevus syndromes.
Alejandro García-Vargas; Christian Hafner; Adriana G Pérez-Rodríguez; L Ximena Rodríguez-Rojas; Pedro González-Esqueda; Robert Stoehr; Mercedes Hernández-Torres; Rudolf Happle
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-08-28     Completed Date:  2008-09-15     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2275-9     Citation Subset:  IM    
Copyright Information:
(c) 2008 Wiley-Liss, Inc.
Instituto Dermatológico de Jalisco "Dr. José Barba Rubio", Guadalajara, Mexico.
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MeSH Terms
Abnormalities, Multiple / genetics*
Cerebrum / abnormalities*
Child, Preschool
Epidermis / abnormalities
Epilepsy / genetics
Intellectual Disability / genetics
Nevus, Pigmented / genetics*
Receptor, Fibroblast Growth Factor, Type 3 / genetics*
Skin Neoplasms / genetics*
Reg. No./Substance:
EC protein, human; EC, Fibroblast Growth Factor, Type 3

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