Multiple epidermal cysts in lowe syndrome

Annals of Dermatology

Volumn 22, Issue 4, 2010, Pages 444-446

  Won, Jong Hoon ^a   Lee, Min Jung ^a   Park, Joon Soo ^a,b   Chung, Hyun ^a   Kim, Jin Kyung ^a   Shim, Jeong Su ^a  

^a Catholic University of Daegu   (South Korea)

^b Yeungnam University   (South Korea)

Author keywords

Epidermal cyst; Lowe syndrome

Indexed keywords

EID: 79955596588     PISSN: 10139087     EISSN: None     Source Type: Journal    
DOI: 10.5021/ad.2010.22.4.444     Document Type: Article

References (13)

1. Lowe CU, Terrey M, MacLachan EA. Organic aciduria, decreased renal ammonia production, hydrophthalmos and mental retardation; a clinical entity. Am J Dis Child 1952; 83: 164-184.
2. Loi M. Lowe syndrome. OrphanetJ Rare Dis 2006; 1: 16.
3. Suchy SF, Olivos-Glander IM, Nussabaum RL. Lowe syndrome, a deficiency of phosphatidyl inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum Mol Genet 1995; 4: 2245-2250.
4. Nandedkar MA, Minus H, Nandedkar MA. Eruptive vellus hair cysts in a patient with Lowe syndrome. Pediatr Dermatol 2004; 21: 54-57. (Pubitemid 38248969)
5. Erdogan F, Ismailogullari S, Soyuer I, Ferahbas A, Poyrazoglu H. Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. J Child Neurol 2007; 22: 427-431. (Pubitemid 46909530)
6. Mueller OT, Hartsfield JK Jr, Gallardo LA, Essig YP, Miller KL, Papenhausen PR, et al. Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint Am J Hum Genet 1991; 49: 804-810.
7. Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL. The effect of missense mutations in the RhoGAPhomology domain on ocrll function. Mol Genet Metab 2006; 89: 121-128. (Pubitemid 44205468)
8. Suk KW, Lee SJ, Kim WS. Two cases of oculocerebrorenal syndrome in two brothers diagnosed after congenital cataract surgery. J Korean Ophthalmol Soc 2006; 47: 1502-1511.
9. Walton DS, Katsavounidou G, Lowe CU. Glaucoma with the oculocerebrorenal syndrome of Lowe. J Glaucoma 2005; 14: 181-185. (Pubitemid 40677253)
10. Choi BS, Lee YJ, Park SE, Nam SO. Two cases of Lowe syndrome. J Korean Child Neurol Soc 2002; 10: 374-377.
11. Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI. Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol 2008; 23: 243-249.
12. Kim SW, Yu YS, Kim IO, Cheong HI, Hwang YS, Choi Y. Two cases of oculocerebrorenal syndrome of Lowe. J Korean Pediatr Soc 1999; 42: 419-423.
13. Batirbaygil Y, Turgut M. Lowe syndrome: case report. J Clin Pediatr Dent 1999; 23: 357-359.