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    Steatocystoma Multiplex

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    Submitted by: Bruce Ren
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas.

    1. Introduction

    Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.

    In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.

    2. Frequency

    Although the prevalence of steatocystoma multiplex is unknown, it appears to be rare.

    3. Causes

    Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions for making a protein called keratin 17, which is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands. Keratin 17 partners with a similar protein called keratin 6b to form networks that provide strength and resilience to the skin, nails, and other tissues.

    The KRT17 gene mutations that cause steatocystoma multiplex alter the structure of keratin 17, preventing it from forming strong, stable networks within cells. The defective keratin network disrupts the growth and function of cells in the skin and nails, including cells that make up the sebaceous glands. These abnormalities lead to the growth of sebum-containing cysts in people with steatocystoma multiplex. However, it is unclear why steatocystomas are typically the only feature of this disorder.

    Many researchers believe that steatocystoma multiplex is a variant form of a disorder called pachyonychia congenita, which can also result from mutations in the KRT17 gene. Like steatocystoma multiplex, pachyonychia congenita involves the growth of steatocystomas. Pachyonychia congenita is also associated with more severe nail abnormalities and a painful skin condition called palmoplantar keratoderma, which are not usually found in people with steatocystoma multiplex.

    In some cases, people with steatocystoma multiplex do not have an identified mutation in the KRT17 gene. The cause of the condition in these individuals is unknown.

    3.1 The gene associated with Steatocystoma multiplex

    4. Inheritance

    When steatocystoma multiplex is caused by mutations in the KRT17 gene, it is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent.

    In people with steatocystoma multiplex who do not have identified KRT17 gene mutations, there is usually no family history of the disorder.

    5. Other Names for This Condition

    • multiple sebaceous cysts
    • multiplex steatocystoma
    • sebocystomatosis

    This entry is adapted from https://medlineplus.gov/genetics/condition/steatocystoma-multiplex

    References

    1. Antal AS, Kulichova D, Redler S, Betz RC, Ruzicka T. Steatocystoma multiplex: keratin 17 - the key player? Br J Dermatol. 2012 Dec;167(6):1395-7. doi:10.1111/j.1365-2133.2012.11073.x.
    2. Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF,Uitto J, McLean WH. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998 Sep;139(3):475-80.
    3. Gass JK, Wilson NJ, Smith FJ, Lane EB, McLean WH, Rytina E, Salvary I, BurrowsNP. Steatocystoma multiplex, oligodontia and partial persistent primary dentitionassociated with a novel keratin 17 mutation. Br J Dermatol. 2009Dec;161(6):1396-8. doi: 10.1111/j.1365-2133.2009.09383.x.
    4. Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D,Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resemblingsteatocystoma multiplex. J Invest Dermatol. 1997 Feb;108(2):220-3.
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