Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature
| Autor: | Manuel Bueno, F. J. Carapeto, Joaquín Olivares, Feliciano J. Ramos |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Central Nervous System
Pathology medicine.medical_specialty Skin Neoplasms Adolescent Bone disease Central nervous system Rickets Bone and Bones Central nervous system disease Lateral ventricles Arachnoid cyst medicine Humans Nevus Hypophosphatemia Familial integumentary system business.industry Brain Syndrome medicine.disease Epidermal nevus syndrome Magnetic Resonance Imaging Radiography medicine.anatomical_structure Pediatrics Perinatology and Child Health Female business Follow-Up Studies |
| Zdroj: | European Journal of Pediatrics. 158:103-107 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s004310051027 |
| Popis: | The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome. |
| Databáze: | OpenAIRE |
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