Steatocystoma Multiplex malady
Categories: Genetic diseases, Rare diseases, Skin diseases
Aliases & Descriptions for Steatocystoma Multiplex:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
ICD10: 30 29
Rare skin diseases
NIH Rare Diseases:47 Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition can be caused by mutations in the KRT17 gene and is inherited in an autosomal dominant manner. Some cases are sporadic (where there are no other cases in the family). Some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2. Treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation. Last updated: 8/2/2016
MalaCards based summary: Steatocystoma Multiplex, also known as sebocystomatosis, is related to steatocystoma multiplex with natal teeth and sm-ahnmd, and has symptoms including adenoma sebaceum, nephrolithiasis and steatocystoma multiplex. An important gene associated with Steatocystoma Multiplex is KRT17 (Keratin 17), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, lung and kidney, and related mouse phenotypes are craniofacial and digestive/alimentary.
UniProtKB/Swiss-Prot:69 Steatocystoma multiplex: Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs.
Genetics Home Reference:25 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.
Wikipedia:70 Steatocystoma multiplex, also known as epidermal polycystic disease and sebocystomatosis, is a benign,... more...
Description from OMIM:51 184500
Human phenotypes related to Steatocystoma Multiplex:63 53
UMLS symptoms related to Steatocystoma Multiplex:tumor-like lesion of skin, leser-trÃ©lat sign
MalaCards organs/tissues related to Steatocystoma Multiplex:35
Skin, Lung, Kidney, Smooth muscle
Articles related to Steatocystoma Multiplex:(show top 50) (show all 148)
UniProtKB/Swiss-Prot genetic disease variations for Steatocystoma Multiplex:69
Clinvar genetic disease variations for Steatocystoma Multiplex:5
Search GEO for disease gene expression data for Steatocystoma Multiplex.
Cellular components related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:
Biological processes related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:
Molecular functions related to Steatocystoma Multiplex according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet