Linear and whorled nevoid hypermelanosis and Joubert syndrome: a novel association: A case report and literature review
| Autor: | Carolina Fernandes, Andréanne Waddell, Sara-Élizabeth Jean |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | SAGE Open Medical Case Reports, Vol 7 (2019) |
| Druh dokumentu: | article |
| ISSN: | 2050-313X 2050313X |
| DOI: | 10.1177/2050313X19876725 |
| Popis: | This report discusses a case of linear and whorled nevoid hypermelanosis associated with cerebellar atrophy, ocular and developmental anomalies compatible with Joubert syndrome. Linear and whorled nevoid hypermelanosis is a rare disorder of skin pigmentation characterized by swirls and whorls of hyperpigmented macules in a reticulate pattern along Blaschko’s lines. Neurologic, cardiac, skeletal and developmental anomalies have been reported. We present a case of linear and whorled nevoid hypermelanosis on an 18-year-old woman who also presented with cerebellar atrophy, jerk nystagmus, macrocephaly and developmental delay. Those symptoms were compatible with Joubert syndrome. A complete work-up failed to reveal other systemic or skeletal anomalies. No chromosomal alteration was found on karyotyping carried out on a skin specimen. Much remains to be known about linear and whorled nevoid hypermelanosis. It is generally a benign condition but association with various congenital anomalies have been reported. Proper work-up is advised in order to exclude congenital anomalies. |
| Databáze: | Directory of Open Access Journals |
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