Ann Dermatol.  2010 Nov;22(4):444-446. 10.5021/ad.2010.22.4.444.

Multiple Epidermal Cysts in Lowe Syndrome

• Won JH
• Lee MJ
• Park JS
• Chung H
• Kim JK
• Shim JS

• KMID: 2266184
• DOI: http://doi.org/10.5021/ad.2010.22.4.444

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.

Keyword

Epidermal cyst; Lowe syndrome

MeSH Terms

Child
Epidermal Cyst
Eye
Humans
Kidney
Male
Nervous System
Oculocerebrorenal Syndrome
Scalp
Skin

Figure

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  Fig. 1 Direct sequencing of OCRL1 gene of this patient disclosed a splice site mutation in exon 14 (IVS13-1G>A), and his mother was a heterozygous carrier.

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  Fig. 2 (A) Multiple, skin colored, deep seated cystic masses on the temporal and occipital scalp. (B) Intraoperative gross view of excised cysts.

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  Fig. 3 (A) The cyst was lined by thin walls and contained keratinous materials (H&E, ×12.5). (B) The cystic walls were composed of several layers of stratified squamous epithelium with a granular layer and the cyst contained keratinous materials arranged in laminated layers (H&E, ×200).

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