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Scleroderma

MedGen UID:
3770
Concept ID:
C0011644
Disease or Syndrome
Synonym: Dermatosclerosis
SNOMED CT: Scleroderma (267874003)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0100324
Monarch Initiative: MONDO:0019340
Orphanet: ORPHA801

Definition

A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. [from HPO]

Conditions with this feature

Phenylketonuria
MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.
Werner syndrome
MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.
Cutaneous porphyria
MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.
Familial porphyria cutanea tarda
MedGen UID:
75669
Concept ID:
C0268323
Disease or Syndrome
Familial porphyria cutanea tarda (F-PCT) is characterized by: skin findings including blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudoscleroderma); and an increased risk for hepatocellular carcinoma (HCC).
Reynolds syndrome
MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.
Myofibrillar myopathy 2
MedGen UID:
324735
Concept ID:
C1837317
Disease or Syndrome
Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Scleroderma, familial progressive
MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
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.
Restrictive dermopathy 2
MedGen UID:
1801155
Concept ID:
C5676942
Disease or Syndrome
Restrictive dermopathy is a rare genodermatosis characterized mainly by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures, and an early neonatal lethal course. Liveborn children usually die within the first week of life (summary by Navarro et al., 2004). For a discussion of genetic heterogeneity of restrictive dermopathy, see RSDM1 (275210).

Professional guidelines

PubMed

Dumas G, Arabi YM, Bartz R, Ranzani O, Scheibe F, Darmon M, Helms J
Intensive Care Med 2024 Jan;50(1):17-35. Epub 2023 Dec 19 doi: 10.1007/s00134-023-07266-7. PMID: 38112769
Kowal-Bielecka O, Fransen J, Avouac J, Becker M, Kulak A, Allanore Y, Distler O, Clements P, Cutolo M, Czirjak L, Damjanov N, Del Galdo F, Denton CP, Distler JHW, Foeldvari I, Figelstone K, Frerix M, Furst DE, Guiducci S, Hunzelmann N, Khanna D, Matucci-Cerinic M, Herrick AL, van den Hoogen F, van Laar JM, Riemekasten G, Silver R, Smith V, Sulli A, Tarner I, Tyndall A, Welling J, Wigley F, Valentini G, Walker UA, Zulian F, Müller-Ladner U; EUSTAR Coauthors
Ann Rheum Dis 2017 Aug;76(8):1327-1339. Epub 2016 Nov 9 doi: 10.1136/annrheumdis-2016-209909. PMID: 27941129
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, Riemekasten G, Clements PJ, Denton CP, Distler O, Allanore Y, Furst DE, Gabrielli A, Mayes MD, van Laar JM, Seibold JR, Czirjak L, Steen VD, Inanc M, Kowal-Bielecka O, Müller-Ladner U, Valentini G, Veale DJ, Vonk MC, Walker UA, Chung L, Collier DH, Ellen Csuka M, Fessler BJ, Guiducci S, Herrick A, Hsu VM, Jimenez S, Kahaleh B, Merkel PA, Sierakowski S, Silver RM, Simms RW, Varga J, Pope JE
Ann Rheum Dis 2013 Nov;72(11):1747-55. doi: 10.1136/annrheumdis-2013-204424. PMID: 24092682

Recent clinical studies

Etiology

Volkmann ER, Andréasson K, Smith V
Lancet 2023 Jan 28;401(10373):304-318. Epub 2022 Nov 25 doi: 10.1016/S0140-6736(22)01692-0. PMID: 36442487Free PMC Article
Volkmann ER, McMahan Z
Curr Opin Rheumatol 2022 Nov 1;34(6):328-336. Epub 2022 Aug 19 doi: 10.1097/BOR.0000000000000899. PMID: 35993874Free PMC Article
Calderon LM, Pope JE
Curr Opin Rheumatol 2021 Mar 1;33(2):122-127. doi: 10.1097/BOR.0000000000000785. PMID: 33481429
Li SC
Pediatr Clin North Am 2018 Aug;65(4):757-781. doi: 10.1016/j.pcl.2018.04.002. PMID: 30031497
Kucharz EJ, Kopeć-Mędrek M
Adv Clin Exp Med 2017 Aug;26(5):875-880. doi: 10.17219/acem/64334. PMID: 29068586

Diagnosis

Di Battista M, Lepri G, Codullo V, Da Rio M, Fiorentini E, Della Rossa A, Guiducci S
Clin Exp Rheumatol 2023 Aug;41(8):1567-1574. Epub 2023 May 17 doi: 10.55563/clinexprheumatol/ki76s5. PMID: 37199215
Jerjen R, Nikpour M, Krieg T, Denton CP, Saracino AM
J Am Acad Dermatol 2022 Nov;87(5):937-954. Epub 2022 Feb 4 doi: 10.1016/j.jaad.2021.10.065. PMID: 35131402
Li SC
Pediatr Clin North Am 2018 Aug;65(4):757-781. doi: 10.1016/j.pcl.2018.04.002. PMID: 30031497
Denton CP, Khanna D
Lancet 2017 Oct 7;390(10103):1685-1699. Epub 2017 Apr 13 doi: 10.1016/S0140-6736(17)30933-9. PMID: 28413064
Careta MF, Romiti R
An Bras Dermatol 2015 Jan-Feb;90(1):62-73. doi: 10.1590/abd1806-4841.20152890. PMID: 25672301Free PMC Article

Therapy

Roofeh D, Lescoat A, Khanna D
Curr Opin Rheumatol 2021 May 1;33(3):240-248. doi: 10.1097/BOR.0000000000000795. PMID: 33741803Free PMC Article
Cottin V, Brown KK
Respir Res 2019 Jan 18;20(1):13. doi: 10.1186/s12931-019-0980-7. PMID: 30658650Free PMC Article
Sullivan KM, Goldmuntz EA, Keyes-Elstein L, McSweeney PA, Pinckney A, Welch B, Mayes MD, Nash RA, Crofford LJ, Eggleston B, Castina S, Griffith LM, Goldstein JS, Wallace D, Craciunescu O, Khanna D, Folz RJ, Goldin J, St Clair EW, Seibold JR, Phillips K, Mineishi S, Simms RW, Ballen K, Wener MH, Georges GE, Heimfeld S, Hosing C, Forman S, Kafaja S, Silver RM, Griffing L, Storek J, LeClercq S, Brasington R, Csuka ME, Bredeson C, Keever-Taylor C, Domsic RT, Kahaleh MB, Medsger T, Furst DE; SCOT Study Investigators
N Engl J Med 2018 Jan 4;378(1):35-47. doi: 10.1056/nejmoa1703327. PMID: 29298160Free PMC Article
Mertens JS, Seyger MMB, Thurlings RM, Radstake TRDJ, de Jong EMGJ
Am J Clin Dermatol 2017 Aug;18(4):491-512. doi: 10.1007/s40257-017-0269-x. PMID: 28303481Free PMC Article
Bielsa Marsol I
Actas Dermosifiliogr 2013 Oct;104(8):654-66. Epub 2013 Aug 13 doi: 10.1016/j.adengl.2012.10.012. PMID: 23948159

Prognosis

Morrisroe K, Nikpour M
Curr Opin Rheumatol 2020 Nov;32(6):479-487. doi: 10.1097/BOR.0000000000000755. PMID: 33002949
Ayello EA, Sibbald RG
Adv Skin Wound Care 2018 Oct;31(10):437. doi: 10.1097/01.ASW.0000545100.48724.f3. PMID: 30234570
Valenzuela A, Song P, Chung L
Curr Opin Rheumatol 2018 Nov;30(6):554-561. doi: 10.1097/BOR.0000000000000539. PMID: 30124603
Elhai M, Meune C, Boubaya M, Avouac J, Hachulla E, Balbir-Gurman A, Riemekasten G, Airò P, Joven B, Vettori S, Cozzi F, Ullman S, Czirják L, Tikly M, Müller-Ladner U, Caramaschi P, Distler O, Iannone F, Ananieva LP, Hesselstrand R, Becvar R, Gabrielli A, Damjanov N, Salvador MJ, Riccieri V, Mihai C, Szücs G, Walker UA, Hunzelmann N, Martinovic D, Smith V, Müller CS, Montecucco CM, Opris D, Ingegnoli F, Vlachoyiannopoulos PG, Stamenkovic B, Rosato E, Heitmann S, Distler JHW, Zenone T, Seidel M, Vacca A, Langhe E, Novak S, Cutolo M, Mouthon L, Henes J, Chizzolini C, Mühlen CAV, Solanki K, Rednic S, Stamp L, Anic B, Santamaria VO, De Santis M, Yavuz S, Sifuentes-Giraldo WA, Chatelus E, Stork J, Laar JV, Loyo E, García de la Peña Lefebvre P, Eyerich K, Cosentino V, Alegre-Sancho JJ, Kowal-Bielecka O, Rey G, Matucci-Cerinic M, Allanore Y; EUSTAR group
Ann Rheum Dis 2017 Nov;76(11):1897-1905. Epub 2017 Aug 23 doi: 10.1136/annrheumdis-2017-211448. PMID: 28835464
Valentini G, Black C
Best Pract Res Clin Rheumatol 2002 Dec;16(5):807-16. doi: 10.1053/berh.2002.0258. PMID: 12473275

Clinical prediction guides

Hoversten P, Bledsoe A, Sweetser S
J Gastroenterol Hepatol 2018 Aug;33(8):1433. Epub 2018 Jun 5 doi: 10.1111/jgh.14283. PMID: 29873115
Tomassetti S, Ravaglia C, Poletti V
Eur Respir Rev 2017 Jun 30;26(144) Epub 2017 Apr 26 doi: 10.1183/16000617.0004-2017. PMID: 28446601Free PMC Article
Solomon JJ, Olson AL, Fischer A, Bull T, Brown KK, Raghu G
Eur Respir Rev 2013 Mar 1;22(127):6-19. doi: 10.1183/09059180.00005512. PMID: 23457159Free 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
Goh NS, Desai SR, Veeraraghavan S, Hansell DM, Copley SJ, Maher TM, Corte TJ, Sander CR, Ratoff J, Devaraj A, Bozovic G, Denton CP, Black CM, du Bois RM, Wells AU
Am J Respir Crit Care Med 2008 Jun 1;177(11):1248-54. Epub 2008 Mar 27 doi: 10.1164/rccm.200706-877OC. PMID: 18369202

Recent systematic reviews

Rubio J, Kyttaris VC
Curr Rheumatol Rep 2023 May;25(5):98-106. Epub 2023 Mar 8 doi: 10.1007/s11926-023-01099-5. PMID: 36884206
Moriana C, Moulinet T, Jaussaud R, Decker P
Autoimmun Rev 2022 Oct;21(10):103168. Epub 2022 Aug 6 doi: 10.1016/j.autrev.2022.103168. PMID: 35944611
Esimekara JO, Perez A, Courvoisier DS, Scolozzi P
J Stomatol Oral Maxillofac Surg 2022 Oct;123(5):e464-e473. Epub 2022 Jan 13 doi: 10.1016/j.jormas.2022.01.005. PMID: 35033725
Traineau H, Aggarwal R, Monfort JB, Senet P, Oddis CV, Chizzolini C, Barbaud A, Francès C, Arnaud L, Chasset F
J Am Acad Dermatol 2020 Feb;82(2):317-325. Epub 2019 Jul 11 doi: 10.1016/j.jaad.2019.07.006. PMID: 31302187
Kowal-Bielecka O, Fransen J, Avouac J, Becker M, Kulak A, Allanore Y, Distler O, Clements P, Cutolo M, Czirjak L, Damjanov N, Del Galdo F, Denton CP, Distler JHW, Foeldvari I, Figelstone K, Frerix M, Furst DE, Guiducci S, Hunzelmann N, Khanna D, Matucci-Cerinic M, Herrick AL, van den Hoogen F, van Laar JM, Riemekasten G, Silver R, Smith V, Sulli A, Tarner I, Tyndall A, Welling J, Wigley F, Valentini G, Walker UA, Zulian F, Müller-Ladner U; EUSTAR Coauthors
Ann Rheum Dis 2017 Aug;76(8):1327-1339. Epub 2016 Nov 9 doi: 10.1136/annrheumdis-2016-209909. PMID: 27941129

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