Sebocystomatosis

General Information (adopted from Orphanet):

Synonyms, Signs: SEBACEOUS CYSTS, MULTIPLE
Steatocystoma multiplex
Number of Symptoms 7
OrphanetNr: 841
OMIM Id: 184500
ICD-10: L72.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic sebaceus gland anomaly
 -Rare genetic disease
Sebaceous gland anomaly
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
2
 (HPO:0009720) Adenoma sebaceum Very frequent [Orphanet] 12 / 7739
3
 (HPO:0012035) Steatocystoma multiplex 4 / 7739
4
 (HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
5
 (OMIM) No natal teeth 1 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (OMIM) Multiple, asymptomatic dermal cysts (trunk, proximal extremities, neck, axillae, inguinal region, scalp) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM 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.

...
Molecular genetics OMIM Smith et al. (1997) described mutations in the KRT17 gene 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 ...