Alternative titles; symbols
SNOMEDCT: 109433009; ICD10CM: L72.2; ORPHA: 841; DO: 0111556;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q21.2 | Steatocystoma multiplex | 184500 | Autosomal dominant | 3 | KRT17 | 148069 |
A number sign (#) is used with this entry because of evidence that steatocystoma multiplex is caused by heterozygous mutation in the keratin-17 gene (KRT17; 148069) on chromosome 17q21.
Mutation in the KRT17 gene has also been found as the cause of pachyonychia congenita-2 (PC2; 167210).
Also see steatocystoma multiplex with natal teeth (184510), which may be a separate disorder.
In typical cases the patient may exhibit 100 to 2,000 round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. Noojin and Reynolds (1948) observed 12 cases in 3 generations.
Sebaceous cysts presenting mainly as wens of the scalp were reported by Stephens (1959) in a large number of individuals in 5 generations in a dominant pedigree pattern.
Bushkell and Gorlin (1975) found leukonychia totalis (151600), multiple sebaceous cysts, and renal calculi in grandfather, father and son, and some of these features in 2 other relatives. Koilonychia (149300) was also found in 3 of the affected persons.
Malignant degeneration of a cyst in a steatocystoma case was reported by Harper and Davis (1971).
Cuccia-Belvedere et al. (1989) studied steatocystoma multiplex in 13 persons in 2 unrelated Italian families.
Smith et al. (1997) reported an affected mother and daughter, as well as an unrelated 3-generation family, diagnosed with steatocystoma multiplex with mutation in the KRT17 gene. On restudy of the 3-generation kindred, some but not all of the 8 patients were found to have mild nail changes compatible with those of pachyonychia congenita. Affected individuals showed a severe phenotype consisting of myriads of cysts in the groin, perineum, axillae, trunk, and face. Histologic examination of cysts from the proband showed sebocytes within an epithelial wall characterized by slight epidermolytic hyperkeratosis. Nail changes were completely absent in the male proband who had myriads of cysts; however, his sister had slight thickening of the thumb nails and another sister had thickened fingernails but normal toenails. There was no family history of natal teeth, but some members had mild focal nonepidermolytic palmoplantar keratoderma.
Covello et al. (1998) described a Dutch Caucasian family in which a mother and 2 children had steatocystoma multiplex and mutation in the KRT17 gene. The 41-year-old mother presented at an outpatient clinic because of what she described as 'acne present from puberty.' The number of lesions had increased with age; in addition to the face, lesions were present on the abdomen, arms, and legs. Her 4-year-old daughter and 11-year-old son were developing similar skin problems, with multiple nodules of varying diameters found in the areas mentioned. None of the affected individuals showed any nail changes or any other skin, hair, or mucosal abnormalities.
The transmission pattern of steatocystoma multiplex in the families reported by Smith et al. (1997) was consistent with autosomal dominant inheritance.
Pamoukian and Westreich (1997) described their experiences in the treatment of 7 members of a family of Jewish Turkish origin over a period of 17 years. Steatocystoma multiplex congenita, especially the cysts in exposed areas of the body, created serious self-image problems. Because of the number of cysts and their fragility, standard cyst excision techniques were impractical and difficult. They described a modified excision method that yielded good results. Their method consisted of making a stab incision into the cyst and manually evacuating its contents. Thereafter, a fine mosquito hemostat was inserted to grasp the cyst wall from within and strip out its lining. At one sitting, 50 to 150 cysts could be removed. Excisions were performed once or twice a year.
Smith et al. (1997) described mutations in the KRT17 gene (148069.0004, 148069.0005) in 2 families diagnosed with steatocystoma multiplex. On reevaluation, mild changes in the nails were found in some, but not all, members of these 2 families, compatible with pachyonychia congenita, and some members had mild focal nonepidermolytic palmoplantar keratoderma. There was no history in either family of natal teeth. Smith et al. (1997) suggested that the disorder in these families was a variant of PC2.
Bushkell, L. L., Gorlin, R. J. Leukonychia totalis, multiple sebaceous cysts, and renal calculi: a syndrome. Arch. Derm. 111: 899-901, 1975. [PubMed: 1147634]
Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Brit. J. Derm. 139: 475-480, 1998. [PubMed: 9767294] [Full Text: https://doi.org/10.1046/j.1365-2133.1998.02413.x]
Cuccia-Belvedere, M., Brazzelli, V., Martinetti, M., Berardesca, E., Dugoujon, J. M., De Paoli, F., Borroni, G., Rabbiosi, G. Familial steatocystoma multiplex: HLA, Gm, Km genotyping and chromosomal analysis in two unrelated families. Clin. Genet. 36: 136-140, 1989. [PubMed: 2766570] [Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03176.x]
Harper, P. S., Davis, J. K. Steatocystoma multiplex (multiple sebaceous cysts) with familial incidence in the first case. Birth Defects Orig. Art. Ser. XII(8): 342 only, 1971. [PubMed: 5173306]
Noojin, R. O., Reynolds, J. P. Familial steatocystoma multiplex. Twelve cases in three generations. Arch. Derm. Syph. 57: 1013-1018, 1948. [PubMed: 18098741] [Full Text: https://doi.org/10.1001/archderm.1948.01520190092012]
Pamoukian, V. N., Westreich, M. Five generations with steatocystoma multiplex congenita: a treatment regimen. Plast. Reconst. Surg. 99: 1142-1146, 1997. [PubMed: 9091916] [Full Text: https://doi.org/10.1097/00006534-199704000-00036]
Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J. Invest. Derm. 108: 220-223, 1997. [PubMed: 9008238] [Full Text: https://doi.org/10.1111/1523-1747.ep12335315]
Stephens, F. E. Hereditary multiple sebaceous cysts. J. Hered. 50: 299-301, 1959.