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Scleroderma, familial progressive

MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
Synonym: SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO
 
Monarch Initiative: MONDO:0008418
OMIM®: 181750

Definition

Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome. [from OMIM]

Clinical features

From HPO
Abnormal abdomen morphology
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Calcinosis
MedGen UID:
709
Concept ID:
C0006663
Finding
Formation of calcium deposits in any soft tissue.
Scleroderma
MedGen UID:
3770
Concept ID:
C0011644
Disease or Syndrome
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
Sclerodactyly
MedGen UID:
472893
Concept ID:
C0150988
Disease or Syndrome
Localized thickening and tightness of the skin of the fingers or toes.
Chromosome breakage
MedGen UID:
91280
Concept ID:
C0376628
Cell or Molecular Dysfunction
Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
Abnormality of chromosome stability
MedGen UID:
1631925
Concept ID:
C4551705
Cell or Molecular Dysfunction
A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.

Professional guidelines

PubMed

Hughes M, Allanore Y, El Aoufy K, Denton CP, Khanna D, Krieg T, Matucci-Cerinic M
JAMA Dermatol 2021 Jul 1;157(7):851-858. doi: 10.1001/jamadermatol.2021.1463. PMID: 34037677
Murdaca G, Spanò F, Puppo F
Expert Opin Drug Saf 2014 Mar;13(3):295-305. Epub 2014 Jan 3 doi: 10.1517/14740338.2014.872238. PMID: 24387049
Barnett AJ, Marks R
Australas J Dermatol 1975 Aug;16(2):45-54. doi: 10.1111/j.1440-0960.1975.tb00556.x. PMID: 12307706

Recent clinical studies

Etiology

van der Bruggen CEE, Tedford RJ, Handoko ML, van der Velden J, de Man FS
Cardiovasc Res 2017 Oct 1;113(12):1423-1432. doi: 10.1093/cvr/cvx145. PMID: 28957530
Chwieśko-Minarowska S, Kowal K, Bielecki M, Kowal-Bielecka O
Folia Histochem Cytobiol 2012 Jul 5;50(2):180-5. doi: 10.5603/fhc.2012.0027. PMID: 22763975
McLaughlin VV, Davis M, Cornwell W
Curr Probl Cardiol 2011 Dec;36(12):461-517. doi: 10.1016/j.cpcardiol.2011.08.002. PMID: 22035608
Agarwal SK
Discov Med 2010 Aug;10(51):134-43. PMID: 20807474Free PMC Article
Greger RE, Greger RE
Arch Dermatol 1975 Jan;111(1):81-5. PMID: 1119827

Diagnosis

Mendoza FA, Bagley J, Gochfeld M, Dalakas MC, Farber JL, Jimenez SA
Acta Neuropathol Commun 2022 Mar 16;10(1):34. doi: 10.1186/s40478-022-01341-8. PMID: 35296359Free PMC Article
van der Bruggen CEE, Tedford RJ, Handoko ML, van der Velden J, de Man FS
Cardiovasc Res 2017 Oct 1;113(12):1423-1432. doi: 10.1093/cvr/cvx145. PMID: 28957530
Kucukguven A, Khalil RA
Curr Drug Targets 2013 Mar;14(3):287-324. PMID: 23316963Free PMC Article
McLaughlin VV, Davis M, Cornwell W
Curr Probl Cardiol 2011 Dec;36(12):461-517. doi: 10.1016/j.cpcardiol.2011.08.002. PMID: 22035608
Vachiéry JL, Coghlan G
Eur Respir Rev 2009 Sep;18(113):162-9. doi: 10.1183/09059180.00003209. PMID: 20956137

Therapy

Helm LA, Clebak KT, Foulke G, Helm M
FP Essent 2023 Mar;526:18-24. PMID: 36913659
Kucukguven A, Khalil RA
Curr Drug Targets 2013 Mar;14(3):287-324. PMID: 23316963Free PMC Article
Roberts-Thomson PJ, Walker JG
Intern Med J 2012 Mar;42(3):235-42. doi: 10.1111/j.1445-5994.2011.02706.x. PMID: 22212090
McLaughlin VV, Davis M, Cornwell W
Curr Probl Cardiol 2011 Dec;36(12):461-517. doi: 10.1016/j.cpcardiol.2011.08.002. PMID: 22035608
Shetty N, Derk CT
Inflamm Allergy Drug Targets 2011 Feb;10(1):19-26. doi: 10.2174/187152811794352088. PMID: 21184655

Prognosis

Yao Y, Wang Z, Li J, Peng A, Cao Y, Liang N, Zhang K
Exp Dermatol 2024 Jul;33(7):e15135. doi: 10.1111/exd.15135. PMID: 39021278
Yin H, Distler O, Shen L, Xu X, Yuan Y, Li R, Liu B, Li Q, Huang Q, Xie F, Zhang Z, Liang R, Dai X, Chen X, Li B, Yan Q, Lu L
Arthritis Rheumatol 2024 Jan;76(1):78-91. doi: 10.1002/art.42662. PMID: 37488975
Helm LA, Clebak KT, Foulke G, Helm M
FP Essent 2023 Mar;526:18-24. PMID: 36913659
van der Bruggen CEE, Tedford RJ, Handoko ML, van der Velden J, de Man FS
Cardiovasc Res 2017 Oct 1;113(12):1423-1432. doi: 10.1093/cvr/cvx145. PMID: 28957530
McLaughlin VV, Davis M, Cornwell W
Curr Probl Cardiol 2011 Dec;36(12):461-517. doi: 10.1016/j.cpcardiol.2011.08.002. PMID: 22035608

Clinical prediction guides

Yin H, Distler O, Shen L, Xu X, Yuan Y, Li R, Liu B, Li Q, Huang Q, Xie F, Zhang Z, Liang R, Dai X, Chen X, Li B, Yan Q, Lu L
Arthritis Rheumatol 2024 Jan;76(1):78-91. doi: 10.1002/art.42662. PMID: 37488975
Helm LA, Clebak KT, Foulke G, Helm M
FP Essent 2023 Mar;526:18-24. PMID: 36913659
van der Bruggen CEE, Tedford RJ, Handoko ML, van der Velden J, de Man FS
Cardiovasc Res 2017 Oct 1;113(12):1423-1432. doi: 10.1093/cvr/cvx145. PMID: 28957530
McLaughlin VV, Davis M, Cornwell W
Curr Probl Cardiol 2011 Dec;36(12):461-517. doi: 10.1016/j.cpcardiol.2011.08.002. PMID: 22035608
Grutters JC, du Bois RM
Eur Respir J 2005 May;25(5):915-27. doi: 10.1183/09031936.05.00133404. PMID: 15863652

Recent systematic reviews

Blagojevic J, AlOdhaibi KA, Aly AM, Bellando-Randone S, Lepri G, Bruni C, Moggi-Pignone A, Guiducci S, Mecacci F, Matucci-Cerinic M, Furst DE
J Rheumatol 2020 Jun 1;47(6):881-887. Epub 2019 Sep 1 doi: 10.3899/jrheum.181460. PMID: 31474594
Bagnato G, Roberts WN, Roman J, Gangemi S
Eur Respir Rev 2017 Jun 30;26(144) Epub 2017 May 17 doi: 10.1183/16000617.0125-2016. PMID: 28515040Free PMC Article
Nakayama A, Tunnicliffe DJ, Thakkar V, Singh-Grewal D, O'Neill S, Craig JC, Tong A
J Rheumatol 2016 Jul;43(7):1363-75. Epub 2016 May 1 doi: 10.3899/jrheum.151309. PMID: 27134259
Yang X, Mardekian J, Sanders KN, Mychaskiw MA, Thomas J 3rd
Clin Rheumatol 2013 Oct;32(10):1519-31. Epub 2013 Jun 20 doi: 10.1007/s10067-013-2307-2. PMID: 23780636Free PMC Article
Bogoch ER, Gross DK
J Rheumatol 2005 Apr;32(4):642-8. PMID: 15801019

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