Multiple Epidermal Cysts in Lowe Syndrome.
- Author:
Jong Hoon WON
1
;
Min Jung LEE
;
Joon Soo PARK
;
Hyun CHUNG
;
Jin Kyung KIM
;
Jeong Su SHIM
Author Information
- Publication Type:Case Report
- Keywords: Epidermal cyst; Lowe syndrome
- MeSH: Child; Epidermal Cyst; Eye; Humans; Kidney; Male; Nervous System; Oculocerebrorenal Syndrome; Scalp; Skin
- From:Annals of Dermatology 2010;22(4):444-446
- CountryRepublic of Korea
- Language:English
- Abstract: Lowe syndrome is a rare genetic disease that appears to cause various clinical symptoms involving the eye, nervous system, and kidney. While a mutation of the OCRL1 gene is known to be responsible for this syndrome, the exact pathophysiology remains unclear. Various multi-organ symptoms are characteristic of Lowe syndrome, but skin lesions have rarely been described. Recently, mechanisms for the association of Lowe syndrome and skin lesions have been proposed. We report this case of Lowe syndrome involving multiple epidermal cysts on the scalp in a 6-year-old male child.
