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Steatocystoma multiplex

MedGen UID:
75476
Concept ID:
C0259771
Finding; Neoplastic Process
Synonyms: Disseminated sebocystomatosis; Multiple sebaceous cysts; Sebocystomatosis
SNOMED CT: Hereditary epidermal polycystic disease (109433009); Sebocystomatosis (109433009); Steatocystoma multiplex (109433009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): KRT17 (17q21.2)
 
HPO: HP:0012035
Monarch Initiative: MONDO:0008485
OMIM®: 184500
Orphanet: ORPHA841

Definition

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.

In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails. [from MedlinePlus Genetics]

Clinical features

From HPO
Steatocystoma multiplex
MedGen UID:
75476
Concept ID:
C0259771
Neoplastic Process
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.\n\nIn affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.
Natal tooth
MedGen UID:
10268
Concept ID:
C0027443
Finding
A tooth present at birth or erupting within the first month of life.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSteatocystoma multiplex
Follow this link to review classifications for Steatocystoma multiplex in Orphanet.

Conditions with this feature

Steatocystoma multiplex
MedGen UID:
75476
Concept ID:
C0259771
Neoplastic Process
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.\n\nIn affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.
Pachyonychia congenita 2
MedGen UID:
314107
Concept ID:
C1721007
Disease or Syndrome
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.
Steatocystoma multiplex-natal teeth syndrome
MedGen UID:
356586
Concept ID:
C1866650
Disease or Syndrome
The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.
Pachyonychia congenita 4
MedGen UID:
811524
Concept ID:
C3714949
Disease or Syndrome
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.

Professional guidelines

PubMed

Statham BN, Cunliffe WJ
Br J Dermatol 1984 Aug;111(2):246. doi: 10.1111/j.1365-2133.1984.tb04054.x. PMID: 6590088

Recent clinical studies

Etiology

Bakkour W, Madan V
Dermatol Surg 2014 Jun;40(6):658-62. doi: 10.1111/dsu.0000000000000013. PMID: 24852470
Torchia D, Vega J, Schachner LA
Am J Clin Dermatol 2012 Feb 1;13(1):19-28. doi: 10.2165/11589050-000000000-00000. PMID: 21958358
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Cho S, Chang SE, Choi JH, Sung KJ, Moon KC, Koh JK
J Dermatol 2002 Mar;29(3):152-6. doi: 10.1111/j.1346-8138.2002.tb00238.x. PMID: 11990250
Feinstein A, Friedman J, Schewach-Millet M
J Am Acad Dermatol 1988 Oct;19(4):705-11. doi: 10.1016/s0190-9622(88)70226-1. PMID: 3053803

Diagnosis

Georgakopoulos JR, Ighani A, Yeung J
Can Fam Physician 2018 Dec;64(12):892-899. PMID: 30541803Free PMC Article
Varshney M, Aziz M, Maheshwari V, Alam K, Jain A, Arif SH, Gaur K
BMJ Case Rep 2011 Sep 26;2011 doi: 10.1136/bcr.04.2011.4165. PMID: 22679266Free PMC Article
Rollins T, Levin RM, Heymann WR
J Am Acad Dermatol 2000 Aug;43(2 Pt 2):396-9. doi: 10.1067/mjd.2000.100048. PMID: 10901733
Plewig G
J Cutan Pathol 1980 Dec;7(6):394-403. doi: 10.1111/j.1600-0560.1980.tb01213.x. PMID: 7451702
Cole LA
Arch Dermatol 1976 Oct;112(10):1437-9. PMID: 962340

Therapy

Jiang L, Yan J, Chen X, Chen Y, Tang Y
J Cosmet Dermatol 2021 Jan;20(1):218-221. Epub 2020 May 10 doi: 10.1111/jocd.13438. PMID: 32390282
Bakkour W, Madan V
Dermatol Surg 2014 Jun;40(6):658-62. doi: 10.1111/dsu.0000000000000013. PMID: 24852470
Torchia D, Vega J, Schachner LA
Am J Clin Dermatol 2012 Feb 1;13(1):19-28. doi: 10.2165/11589050-000000000-00000. PMID: 21958358
Rossi R, Cappugi P, Battini M, Mavilia L, Campolmi P
Int J Dermatol 2003 Apr;42(4):302-4. doi: 10.1046/j.1365-4362.2003.01309.x. PMID: 12694500
Friedman SJ
Cutis 1987 Jun;39(6):506-7. PMID: 3475194

Prognosis

Yang L, Zhang S, Wang G
J Pathol 2019 Feb;247(2):158-165. Epub 2018 Dec 7 doi: 10.1002/path.5178. PMID: 30306595
Bakkour W, Madan V
Dermatol Surg 2014 Jun;40(6):658-62. doi: 10.1111/dsu.0000000000000013. PMID: 24852470
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Apaydin R, Bilen N, Bayramgürler D, Başdaş F, Harova G, Dökmeci S
Australas J Dermatol 2000 May;41(2):98-100. doi: 10.1046/j.1440-0960.2000.00403.x. PMID: 10812703
Lim TW, Paik JH, Kim NI
J Dermatol 1999 Oct;26(10):677-81. doi: 10.1111/j.1346-8138.1999.tb02071.x. PMID: 10554435

Clinical prediction guides

Uzuncakmak TK, Oba MC, Sar M, Serdaroğlu S
Acta Dermatovenerol Croat 2022 Nov;30(3):194-196. PMID: 36812282
Jiang L, Yan J, Chen X, Chen Y, Tang Y
J Cosmet Dermatol 2021 Jan;20(1):218-221. Epub 2020 May 10 doi: 10.1111/jocd.13438. PMID: 32390282
Kaya TI, Ikizoglu G, Kokturk A, Tursen U
Int J Dermatol 2001 Dec;40(12):785-8. doi: 10.1046/j.1365-4362.2001.01325.x. PMID: 11903679
Kim JU, Nogita T, Terajima S, Kawashima M
J Dermatol 1998 Jul;25(7):479-81. doi: 10.1111/j.1346-8138.1998.tb02439.x. PMID: 9714984
Apesteguía L, Mellado MT, Inchusta MI, Cordero JL
Eur Radiol 1998;8(4):647-8. doi: 10.1007/s003300050453. PMID: 9569341

Recent systematic reviews

Torchia D, Vega J, Schachner LA
Am J Clin Dermatol 2012 Feb 1;13(1):19-28. doi: 10.2165/11589050-000000000-00000. PMID: 21958358

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