Steatocystoma Multiplex -A Rare Genetic Disorder:A Case Report and Review of Literature

Abstract

A 17 years old female presented with multiple asymptomatic cutaneous cysts all over body, sparing the head and neck region. The microscopic examination of the cysts showed the features of steatocystoma multiplex. This disorder, although it is asymptomatic, is a cosmetic threat to the patient . Only a few cases of the patients with an autosomal dominant mutation, who had keratin 17, have been reported. We are reporting here, a case of steatocystoma multiplex in a 17 years old female, along with its review of literature.

Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex

“…These are often 2–4 mm in diameter, but can grow if unchecked to form 2cm or larger cysts (2). The familial form of SM is associated with a keratin 17 gene mutation (4).…”

“…The familial form of SM is associated with a keratin 17 gene mutation (4). Keratin 17 is a type 1 cytokeratin, which is involved in the assembly of intermediate keratin filaments (2). The gene for keratin 17 is located on chromosome 17 (2).…”

“…While SM is generally inherited in an autosomal dominant fashion, steatocystomas can occur sporadically, with both males and females being affected equally (1). Steatocystomata are thought to arise from an abnormal lining of the sebaceous duct, and onset at puberty is common and likely due to hormonal stimulus of the pilosebaceous unit (1,2). The cysts are generally small (2–4mm) somewhat firm bumps, which contain an oily, yellow liquid, and can occasionally contain one or more hairs.…”

Recurring Axillary, Abdominal and Genitofemoral Nodules and Abscesses: A Quiz

“…The lesions are naevoid configurations of ineffective hair follicles located at the ducts of sebaceous glands. The endocrine stimulation of sebaceous glands triggered by puberty may be linked to the development of clinical disease (3). Keratin 17 abnormalities have been described in familial steatocystomas and in another rare genetic disorder, pachyonychia congenita type 2 (PC-2), thus linking the 2 disorders.…”

“…As the disease can develop with inflammation and suppuration due to rupture of the cysts (steatocystoma multiplex suppurutiva) it is a relevant differential diagnosis to hidradenitis suppurativa (HS). SM can present from early childhood, but most often only present with more serious symptoms in adolescence (3). An autosomal dominant (4) pattern of inheritance has been described.…”