Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis,:781 is a benign, autosomal dominant congenital condition resulting in multiple cysts on a person's body. Steatocystoma simplex is the solitary counterpart to steatocystoma multiplex.
Causes and genetics
It is associated with defects in Keratin 17. The condition is inherited in an autosomal dominant manner. This indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
However, a solitary case can also emerge in a family with no prior history of the disorder due to the occurrence of a mutation (often referred to as a sporadic or spontaneous mutation).
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- Keratin disease
- Steatocystoma simplex
- List of cutaneous conditions
- List of cutaneous conditions caused by mutations in keratins
- Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- Davey, Mathew. "Steatocystoma Multiplex". Retrieved 25 May 2011.
- Smith FJ, Corden LD, Rugg EL, et al. (1997). "Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex". J. Invest. Dermatol. 108 (2): 220–3. doi:10.1111/1523-1747.ep12335315. PMID 9008238.
- Pamoukian VN, Westreich M (1997). "Five generations with steatocystoma multiplex congenita: a treatment regimen". Plast. Reconstr. Surg. 99 (4): 1142–6. doi:10.1097/00006534-199704000-00036. PMID 9091916.