FaCD Online Syndrome Fact Sheet

Last updated: 18 Apr 2008

Name: Steatocystoma Multiplex

Synonym: Multiple Sebaceous Cysts, incl.: Pachyonychia Congenita type II (Jackson-Sertoli type)

Mode of Inheritance: AD

Genes

K17/KRT17, mapped to 17q12-q21

Tumor features

sebaceous cysts (malignant)

Non-tumor features

sebaceous cysts

Non-tumor features (possible)

dermoid cyst of the brain

Comment

Typically (many) hundreds of sebaceous cysts appear on the back, trunk, arms, scrotum and thighs.[1]. Malignant transformation has been reported by Harper and Davis[2]. Some families show signs of Pachyonychia Congenita (hypertrophic nail dysplasia and mild focal palmoplantar keratoderma) in addition to the multiple sebaceous cysts. This condition is referred to as Pachyonychia Congenita type 2 (Jackson-Sertoli type or Jackson-Lawler type). Nagayama et al.[3] reported a 46-year-old female with steatocystoma multiplex and a giant dermoid cyst in her brain.

References

[1] Van der Kley AM, Hulsmans RF, Vermeulen AH. [Eruptive vellus hair cysts and steatocytoma multiplex in a family]. Ann Dermatol Venereol 1990; 117(11):790-792.
[2] Harper PS, Davis JK. Steatocystoma multiplex (multiple sebaceous cysts) with familial incidence in the first case. Birth Defects Orig Artic Ser XII[8], 342. 1971.
[3] Nagayama M, Shinohara Y, Takeoka T, Haida M, Ikeda A, Yamamoto I, Sato O. Intracranial paramedian hourglass-shaped dermoid associated with hereditary steatocystoma multiplex. Eur Neurol 1992; 32(5):260-263.