Steatocystoma Multiplex malady

NIH Rare Diseases: 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 is thought to be caused by mutations in the KRT17 gene and appears to be inherited in an autosomal dominant manner. 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.³⁰

MalaCards: Steatocystoma Multiplex, also known as multiple sebaceous cysts, is related to pachyonychia congenita and pericardial mesothelioma. An important gene associated with Steatocystoma Multiplex is KRT17 (keratin 17), and among its related pathways are Cytoskeleton remodeling_Keratin filaments and Cytoskeleton remodeling Keratin filaments. The compounds hematoxylin and dithranol have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype craniofacial.

Genetics Home Reference: 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.¹⁷

Wikipedia: Steatocystoma multiplex (also known as \"Epidermal polycystic disease,\" and \"Sebocystomatosis\") is a...⁴⁴ more...

OMIM: 184500

steatocystoma multiplex 7 30 16 17 33 32 43 multiple sebaceous cysts 30 16 17 43

multiplex steatocystoma 17 sebocystomatosis 17

Diseases related to steatocystoma multiplex by text searches and GeneDecks gene sharing:

(show top 50)    (show all 51)

id	Related Disease	Score	Top Affiliating Genes
1	pachyonychia congenita	31.3	KRT16, KRT17
2	pericardial mesothelioma	12.8	KRT10, CALB2
3	primary cutaneous amyloidosis	12.7	KRT17, KRT10
4	trichoepithelioma	12.7	KRT10, KRT17
5	cystic teratoma	12.7	CALB2, KRT10
6	abrikosov's tumor	12.6	CALB2, KRT10
7	epidermolysis bullosa	12.6	KRT17, KRT10
8	epidermolytic palmoplantar keratoderma	12.6	KRT17, KRT16
9	teratoma	12.6	KRT10, CALB2
10	monilethrix	12.5	KRT16, KRT17
11	epidermolytic acanthoma	12.5	KRT10, KRT16
12	cervical intraepithelial neoplasia	12.4	KRT17, KRT10
13	acanthoma	12.4	KRT16, KRT10
14	synovial sarcoma	12.4	KRT17, CALB2
15	nonencapsulated sclerosing carcinoma	12.4	CALB2, KRT17
16	nonepidermolytic palmoplantar keratoderma	12.4	KRT16, KRT10
17	epidermolytic hyperkeratosis	12.4	KRT10, KRT16
18	diabetic foot ulcers	12.4	KRT10, KRT16
19	ectodermal dysplasia	12.4	KRT16, KRT17
20	middle ear cholesteatoma	12.4	KRT16, KRT10
21	ulceration of vulva	12.3	KRT10, KRT16
22	keratitis	12.3	KRT17, KRT16
23	cholesteatoma	12.3	KRT16, KRT10
24	oral lichen planus	12.2	KRT16, KRT10
25	lichen planus	12.1	KRT16, KRT10
26	contact dermatitis	12.0	KRT17, KRT16, CALB2
27	amyloidosis	12.0	KRT10, KRT17
28	bowen syndrome	12.0	KRT16, KRT17, KRT10
29	palmoplantar keratosis	12.0	KRT10, KRT17, KRT16
30	epidermolysis bullosa simplex	12.0	KRT16, KRT17, KRT10
31	keratoacanthoma	12.0	KRT10, KRT17, KRT16
32	keratoderma	12.0	KRT16, KRT17, KRT10
33	nevus	11.9	KRT16, KRT17, KRT10
34	alopecia	11.9	KRT16, KRT10
35	keratosis	11.9	KRT10, KRT17, KRT16
36	ichthyosis	11.9	KRT16, KRT17, KRT10
37	acne	11.9	KRT16, KRT17, KRT10
38	skin disease	11.9	KRT16, KRT17, KRT10
39	mayer-rokitansky-kuster-hauser syndrome	11.9	KRT10, KRT17, KRT16
40	basal cell carcinoma	11.8	KRT16, KRT17, KRT10
41	bartter disease	11.8	KRT10, KRT16, CALB2
42	psoriasis	11.8	KRT10, KRT17, KRT16
43	cervical cancer	11.7	KRT10, KRT17, KRT16
44	dermatitis	11.4	CALB2, KRT16, KRT17, KRT10
45	squamous cell carcinoma	11.4	KRT10, KRT17, KRT16, CALB2
46	cervicitis	11.3	KRT10, KRT17, KRT16, CALB2
47	thyroiditis	11.3	CALB2, KRT16, KRT17, KRT10
48	steatocystoma multiplex with natal teeth	8.7
49	pachyonychia congenita type 2	8.4
50	sebocystomatosis	8.4

Clinical features from OMIM: 184500

Approved drugs:

Drug clinical trials:

Genetic tests related to steatocystoma multiplex:

id	Genetic test	Affiliating Genes
1	Steatocystoma Multiplex clinical/research	KRT17

MalaCards organs/tissues related to steatocystoma multiplex:

²²

MGI Mouse Phenotypes related to steatocystoma multiplex:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	8.5	KRT16, KRT17, KRT10

Articles related to steatocystoma multiplex:

id	Title	Authors	Year	Affiliating Genes
1	Novel missense mutation of keratin in Chinese family with steatocystoma multiplex. (19470054)	Wang J.F.... Zhang X.J.	2009	KRT17
2	Late onset of a facial variant of steatocystoma multiplex - calretinin as a specific marker of the follicular companion cell layer. (18266860)	Riedel C.... Frosch P.J.	2008	CALB2
3	Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. (16620218)	Oh S.-W.... Kim S.-C.	2006	KRT17
4	Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (9767294)	Covello S.P.... McLean W.H.I.	1998	KRT17
5	Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. (9008238)	Smith F.J.D.... McLean W.H.I.	1997	KRT17
6	Expression of keratins (K10 and K17) in steatocystoma multiplex, eruptive vellus hair cysts, and epidermoid and trichilemmal cysts. (9185910)	Tomkova H.... Arata J.	1997	KRT17, KRT10

Genes related to steatocystoma multiplex according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	KRT17	keratin 17	11.1	Publications, Summaries
2	KRT10	keratin 10	11.0	Publications
3	KRT16	keratin 16	11.0
4	CALB2	calbindin 2	11.0	Publications

Pathways related to steatocystoma multiplex according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cytoskeleton remodeling_Keratin filaments41	9.1	KRT16, KRT17
2	Cytoskeleton remodeling Keratin filaments10	8.8	KRT16, KRT17

Compounds related to steatocystoma multiplex according to GeneDecks:

(show all 11)

id	Compound	Score	Top Affiliating Genes
1	hematoxylin32	9.4	KRT10, CALB2
2	dithranol32	9.3	KRT16, KRT10
3	calcipotriol32 42 9 9	12.2	KRT16, KRT10
4	isotretinoin32 9 9	11.2	KRT16, KRT10
5	sodium dodecylsulfate32	9.1	KRT17, KRT16
6	calcitriol32 42 9 18 9	13.0	KRT16, KRT10
7	1,25 dihydroxy vitamin d332	8.9	KRT16, KRT10
8	retinoid32	8.7	KRT16, KRT17, KRT10
9	steroid32	8.6	KRT16, CALB2, KRT10
10	paraffin32	8.2	KRT17, KRT16, CALB2, KRT10
11	retinoic acid32 42 18	10.2	KRT16, KRT17, KRT10

Cellular components related to steatocystoma multiplex according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament	GO:005882	8.5	KRT16, KRT17, KRT10

Biological processes related to steatocystoma multiplex according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	epidermis development	GO:008544	8.5	KRT16, KRT17, KRT10

Molecular functions related to steatocystoma multiplex according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of cytoskeleton	GO:005200	9.1	KRT16, KRT17