Cited by 20Systemic Sclerosis and Related DiseasesEosinophilic Disorders and SyndromesConnective tissue disorders research

The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

Sclerodermalike syndromes: Great imitators

Open access
Varjú, Cecília, Kumánovics, Gábor, Czirják, László, Matucci-Cerinic, Marco, Minier, Tünde·2020·Clinics in Dermatology

Abstract

Sclerodermalike syndromes (SLSs) comprise diseases with mucin deposition (eg, scleromyxedema, scleredema), with eosinophilia (eg, eosinophilic fasciitis), metabolic or biochemical abnormalities (eg, nephrogenic systemic fibrosis), or endocrine disorders (eg, POEMS syndrome, or polyneuropathy, organomegaly, endocrinopathy, monoclonal lymphoproliferative disorder, and hypothyroidism). Chronic graft-versus-host disease may also show sclerodermalike skin changes. Inherited progeria syndromes with early aging (eg, Werner syndrome) and a heterogeneous group of hereditary disorders with either skin thickening (eg, stiff skin syndrome) or atrophy and tightening (eg, acrogeria) can also imitate classic systemic sclerosis (SSc). In addition, SLSs can be provoked by several drugs, chemicals, or even physical injury (eg, trauma, vibration stress, radiation). In SLSs, the distribution of skin involvement seems to be atypical compared with SSc. The acral skin involvement is usually missing, and lack of Raynaud phenomenon, scleroderma-specific antinuclear antibodies, the absence of scleroderma capillary pattern, and internal organ manifestations indicate the presence of an SLS. Skin involvement is sometimes nodular, and the underlying tissues can also be affected. For the differential diagnosis, a skin biopsy of the deeper layers including fascia and muscle is required. Histology does not always allow differentiation between SSc and SLSs; therefore, the diagnosis is often based on the distribution, quality of cutaneous involvement, and other accompanying clinical features.

Overview

Integrity signals

Registry

Crossref · 10.1016/j.clindermatol.2019.10.010

Cites

1 of 1 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Show all 1 references

Research works printed but not linked: 199

  1. Varga, 2017, Pathogenesis of systemic sclerosis: recent insights of molecular and cellular mechanisms and therapeutic opportunities, J Scleroderma Relat Disord, 2, 137, 10.5301/jsrd.5000249 · DOI
  2. Meier, 2012, Update on the profile of the EUSTAR cohort: an analysis of the EULAR Scleroderma Trials and Research group database, Ann Rheum Dis, 71, 1355, 10.1136/annrheumdis-2011-200742 · DOI
  3. Denton, 2017, Systemic sclerosis, Lancet, 390, 1685, 10.1016/S0140-6736(17)30933-9 · DOI
  4. Maricq, 1975, Abnormal capillary patterns and systemic disease in scleroderma (progressive systemic sclerosis), Bibl Anat, 13, 248
  5. Czirjak, 2008, Survival and causes of death in 366 Hungarian patients with systemic sclerosis, Ann Rheum Dis, 67, 59, 10.1136/ard.2006.066340 · DOI
  6. Jablonska, 1998, Scleroderma-like disorders, Semin Cutan Med Surg, 17, 65, 10.1016/S1085-5629(98)80064-3 · DOI
  7. Haustein, 2005, Scleroderma and pseudo-scleroderma: uncommon presentations, Clin Dermatol, 23, 480, 10.1016/j.clindermatol.2005.01.019 · DOI
  8. Mori, 2002, Scleroderma-like cutaneous syndromes, Curr Rheumatol Rep, 4, 113, 10.1007/s11926-002-0006-0 · DOI
  9. Czirjak, 2006, Clinical features of scleroderma-like disorders: a challenge for the rheumatologist, Curr Rheumatol Rev, 2, 369, 10.2174/157339706778699850 · DOI
  10. Boin, 2008, Scleroderma-like fibrosing disorders, Rheum Dis Clin N Am, 34, 199, 10.1016/j.rdc.2007.11.001 · DOI
  11. Rongioletti, 2016, Histopathologic characteristics of scleromyxedema: a study of a series of 34 cases, J Am Acad Dermatol, 74, 1194, 10.1016/j.jaad.2015.12.021 · DOI
  12. Muldrow, 1983, Scleromyxedema associated with IgG lambda multiple myeloma, Cleve Clin Q, 50, 189, 10.3949/ccjm.50.2.189 · DOI
  13. Sene, 2004, Hepatitis C virus-associated extrahepatic manifestations: a review, Metab Brain Dis, 19, 357, 10.1023/B:MEBR.0000043982.17294.9b · DOI
  14. Hanks, 1996, Fine-needle aspiration diagnosis of HIV-related conditions, Pathology (Phila), 4, 221
  15. Fowler, 1984, Cutaneous mucinosis associated with lupus erythematosus, J Rheumatol, 11, 380
  16. del Pozo, 2001, Dermatomyositis and mucinosis, Int J Dermatol, 40, 120, 10.1046/j.1365-4362.2001.01060.x · DOI
  17. Varga, 1992, Papular mucinosis (scleromyxoedema) complicating diffuse systemic sclerosis: clinical features and electron microscope observations, Br J Rheumatol, 31, 779, 10.1093/rheumatology/31.11.779 · DOI
  18. Rongioletti, 2013, Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients, J Am Acad Dermatol, 69, 66, 10.1016/j.jaad.2013.01.007 · DOI
  19. Nofal, 2017, Lichen myxedematosus: how to reach the accurate diagnosis, Int J Dermatol, 56, e181, 10.1111/ijd.13619 · DOI
  20. Knobler, 2017, European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin. Part 2: scleromyxedema, scleredema and nephrogenic systemic fibrosis, J Eur Acad Dermatol Venereol, 31, 1581, 10.1111/jdv.14466 · DOI
  21. Park, 2018, Monoclonal gammopathy-associated scleromyxedema presenting as leonine facies, Arthritis Rheumatol, 70, 1694, 10.1002/art.40530 · DOI
  22. Atci, 2017, Lichen myxedematosus: a case series focusing on clinical features, disease associations, and management, J Dtsch Dermatol Ges, 15, 215, 10.1111/ddg.12970 · DOI
  23. Blum, 2008, Scleromyxedema: a case series highlighting long-term outcomes of treatment with intravenous immunoglobulin (IVIG), Medicine (Baltimore), 87, 10, 10.1097/MD.0b013e3181630835 · DOI
  24. Johkura, 1999, Encephalopathy in scleromyxedema, Neurology, 53, 1138, 10.1212/WNL.53.5.1138 · DOI
  25. Reid, 1987, Monoclonal paraproteinemia with subacute encephalopathy, seizures, and scleromyxedema, Neurology, 37, 1054, 10.1212/WNL.37.6.1054 · DOI
  26. De Simone, 2010, Cardiomyopathy in scleromyxedema: report of a fatal case, Eur J Dermatol, 20, 852
  27. Landais, 2015, Scleromyxedema (papular mucinosis) with dermato-neuro syndrome: a rare, potentially fatal complication, Presse Med, 44, 850, 10.1016/j.lpm.2015.04.026 · DOI
  28. Rongioletti, 2001, Updated classification of papular mucinosis, lichen myxedematosus, and scleromyxedema, J Am Acad Dermatol, 44, 273, 10.1067/mjd.2001.111630 · DOI
  29. Rudner, 1966, Scleromyxedema. A variant of lichen myxedematosus, Arch Dermatol, 93, 3, 10.1001/archderm.1966.01600190009002 · DOI
  30. Dinneen, 1995, Scleromyxedema, J Am Acad Dermatol, 33, 37, 10.1016/0190-9622(95)90007-1 · DOI
  31. Harris, 1989, Scleromyxedema, Int J Dermatol, 28, 661, 10.1111/j.1365-4362.1989.tb02437.x · DOI
  32. Van Linthoudt, 1996, Scleromyxedema with myopathy and hyperthyroidism, J Rheumatol, 23, 1299
  33. Pravata, 1989, Scleromyxedema without paraproteinemia, G Ital Dermatol Venereol, 124, 85
  34. Kitamura, 1978, Immunochemical analysis of the monoclonal paraprotein in scleromyxedema, J Invest Dermatol, 70, 305, 10.1111/1523-1747.ep12543468 · DOI
  35. Danby, 1976, Papular mucinosis with IgG(K) M component, Can Med Assoc J, 114, 920
  36. Krebs, 1980, Lichen myxedematosus and multiple myeloma type IgG/kappa, Hautarzt, 31, 649
  37. Feasel, 2001, Complete remission of scleromyxedema following autologous stem cell transplantation, Arch Dermatol, 137, 1071
  38. Bata-Csorgo, 1999, Scleromyxedema, J Am Acad Dermatol, 41, 343, 10.1016/S0190-9622(99)70383-X · DOI
  39. Gomez-Diez, 2005, Scleromyxedema: ultrastructural study, Actas Dermosifiliogr, 96, 619, 10.1016/S0001-7310(05)73148-3 · DOI
  40. Amini-Adle, 2007, Scleromyxedema: successful treatment with thalidomide in two patients, Dermatology, 214, 58, 10.1159/000096914 · DOI
  41. Krajnc, 1998, Significance of histopathologic analysis of skin lesions in scleromyxedema. Light microscopy, electron microscopy, immunohistochemistry and immunofluorescence microscopy, Acta Med Austriaca, 25, 109
  42. Rongioletti, 2001, Cutaneous mucinoses: microscopic criteria for diagnosis, Am J Dermatopathol, 23, 257, 10.1097/00000372-200106000-00022 · DOI
  43. Loggini, 2001, Lichen myxedematosus with systemic involvement: clinical and autopsy findings, J Am Acad Dermatol, 45, 606, 10.1067/mjd.2001.111903 · DOI
  44. Delyon, 2013, Specific lymph node involvement in scleromyxedema: a new diagnostic entity for hypermetabolic lymphadenopathy, Virchows Arch, 462, 679, 10.1007/s00428-013-1424-2 · DOI
  45. Shayegi, 2015, Allogeneic stem cell transplantation for the treatment of refractory scleromyxedema, Transl Res, 165, 321, 10.1016/j.trsl.2014.06.002 · DOI
  46. Bidier, 2012, Scleromyxoedema: clinical follow-up after successful treatment with high-dose immunoglobulins reveals different long-term outcomes, Acta Derm Venereol, 92, 408, 10.2340/00015555-1299 · DOI
  47. Guarneri, 2017, High-dose intravenous immunoglobulin therapy for scleromyxoedema: a prospective open-label clinical trial using an objective score of clinical evaluation system, J Eur Acad Dermatol Venereol, 31, 1157, 10.1111/jdv.14244 · DOI
  48. Efthimiou, 2008, Intravenous gammaglobulin and thalidomide may be an effective therapeutic combination in refractory scleromyxedema: case report and discussion of the literature, Semin Arthritis Rheum, 38, 188, 10.1016/j.semarthrit.2007.10.015 · DOI
  49. Ataergin, 2008, Transient efficacy of double high-dose chemotherapy and autologous peripheral stem cell transplantation, immunoglobulin, thalidomide, and bortezomib in the treatment of scleromyxedema, Am J Clin Dermatol, 9, 271, 10.2165/00128071-200809040-00008 · DOI
  50. Bos, 2011, Thalidomide and dexamethasone followed by autologous stem cell transplantation for scleromyxoedema, Rheumatology (Oxford), 50, 1925, 10.1093/rheumatology/ker209 · DOI
  51. Graff, 1968, Discussion of scleredema adultorum, Arch Dermatol, 98, 319
  52. Kalfa, 2015, Therapy resistant idiopathic scleredema: an underlying pathology not always present, Eur J Rheumatol, 2, 163, 10.5152/eurjrheum.2015.0004 · DOI
  53. Nagi, 2005, Scleredema of Buschke in pediatric age group, J Coll Physicians Surg Pak, 15, 311
  54. Ha, 2018, Ultrasonographic findings of scleredema adultorum of Buschke involving the posterior neck, Korean J Radiol, 19, 425, 10.3348/kjr.2018.19.3.425 · DOI
  55. Rongioletti, 2015, Scleredema. A multicentre study of characteristics, comorbidities, course and therapy in 44 patients, J Eur Acad Dermatol Venereol, 29, 2399, 10.1111/jdv.13272 · DOI
  56. Eastham, 2014, Paraproteinemia-associated scleredema treated successfully with intravenous immunoglobulin, JAMA Dermatol, 150, 788, 10.1001/jamadermatol.2013.8835 · DOI
  57. Cole, 1983, Scleredema diabeticorum: a common and distinct cutaneous manifestation of diabetes mellitus, Diabetes Care, 6, 189, 10.2337/diacare.6.2.189 · DOI
  58. Sattar, 1988, Scleroedema diabeticorum: a minor but often unrecognized complication of diabetes mellitus, Diabet Med, 5, 465, 10.1111/j.1464-5491.1988.tb01030.x · DOI
  59. Sun, 2016, AGEs trigger autophagy in diabetic skin tissues and fibroblasts, Biochem Biophys Res Commun, 471, 355, 10.1016/j.bbrc.2016.02.020 · DOI
  60. Miguel, 2018, Treatment of scleroedema adultorum Buschke: a systematic review, Acta Derm Venereol, 98, 305, 10.2340/00015555-2846 · DOI
  61. Sun, 2018, Successful treatment of scleredema diabeticorum with tranilast: three case reports, Diabetes Care, 41, e40, 10.2337/dc17-1994 · DOI
  62. Gandolfi, 2014, Improvement in clinical symptoms of scleredema diabeticorum by frequency-modulated electromagnetic neural stimulation: a case report, Diabetes Care, 37, e233, 10.2337/dc14-0730 · DOI
  63. Fam, 1986, POEMS syndrome. Study of a patient with proteinuria, microangiopathic glomerulopathy, and renal enlargement, Arthritis Rheum, 29, 233, 10.1002/art.1780290212 · DOI
  64. Ishikawa, 1987, The skin changes of POEMS syndrome, Br J Dermatol, 117, 523, 10.1111/j.1365-2133.1987.tb04933.x · DOI
  65. Viard, 1988, POEMS syndrome presenting as systemic sclerosis. Clinical and pathologic study of a case with microangiopathic glomerular lesions, Am J Med, 84, 524, 10.1016/0002-9343(88)90277-X · DOI
  66. Hasegawa, 2012, Skin sclerosis as a manifestation of POEMS syndrome, J Dermatol, 39, 922, 10.1111/j.1346-8138.2012.01609.x · DOI
  67. Bardwick, 1980, Plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes: the POEMS syndrome. Report on two cases and a review of the literature, Medicine (Baltimore), 59, 311, 10.1097/00005792-198007000-00006 · DOI
  68. Dispenzieri, 2003, POEMS syndrome: definitions and long-term outcome, Blood, 101, 2496, 10.1182/blood-2002-07-2299 · DOI
  69. Morrow, 1982, Rosen SW. POEMS syndrome: studies in a patient with an IgG-kappa M protein but no polyneuropathy, Arch Intern Med, 142, 1231, 10.1001/archinte.1982.00340190191032 · DOI
  70. Mauermann, 2018, The peripheral neuropathies of POEMS syndrome and Castleman disease, Hematol Oncol Clin North Am, 32, 153, 10.1016/j.hoc.2017.09.012 · DOI
  71. Suichi, 2019, Proposal of new clinical diagnostic criteria for POEMS syndrome, J Neurol Neurosurg Psychiatry, 90, 133, 10.1136/jnnp-2018-318514 · DOI
  72. Dispenzieri, 2015, POEMS syndrome: update on diagnosis, risk-stratification, and management, Am J Hematol, 90, 951, 10.1002/ajh.24171 · DOI
  73. Dispenzieri, 2017, POEMS syndrome: 2017 update on diagnosis, risk stratification, and management, Am J Hematol, 92, 814, 10.1002/ajh.24802 · DOI
  74. Brown, 2019, POEMS syndrome: clinical update, J Neurol, 266, 268, 10.1007/s00415-018-9110-6 · DOI
  75. Miest, 2013, Cutaneous manifestations in patients with POEMS syndrome, Int J Dermatol, 52, 1349, 10.1111/j.1365-4632.2012.05648.x · DOI
  76. Barete, 2010, Skin manifestations and vascular endothelial growth factor levels in POEMS syndrome: impact of autologous hematopoietic stem cell transplantation, Arch Dermatol, 146, 615, 10.1001/archdermatol.2010.100 · DOI
  77. Soubrier, 1994, POEMS syndrome: a study of 25 cases and a review of the literature. French Study Group on POEMS Syndrome, Am J Med, 97, 543, 10.1016/0002-9343(94)90350-6 · DOI
  78. Kumar, 2018, Cutaneous manifestations as a clue to the diagnosis of POEMS syndrome, Postgrad Med J, 94, 668, 10.1136/postgradmedj-2018-135860 · DOI
  79. Caimari, 2019, Prevalence and course of endocrinopathy in POEMS syndrome, J Clin Endocrinol Metab, 104, 2140, 10.1210/jc.2018-01516 · DOI
  80. Gandhi, 2007, Endocrinopathy in POEMS syndrome: the Mayo Clinic experience, Mayo Clin Proc, 82, 836, 10.4065/82.7.836 · DOI
  81. Keddie, 2018, POEMS syndrome, Curr Opin Neurol, 31, 551, 10.1097/WCO.0000000000000610 · DOI
  82. Murphy-Chutorian, 2013, Dermatologic manifestations of diabetes mellitus: a review, Endocrinol Metab Clin North Am, 42, 869, 10.1016/j.ecl.2013.07.004 · DOI
  83. Lima, 2017, Cutaneous manifestations of diabetes mellitus: a review, Am J Clin Dermatol, 18, 541, 10.1007/s40257-017-0275-z · DOI
  84. Buckingham, 1984, Scleroderma-like changes in insulin-dependent diabetes mellitus: clinical and biochemical studies, Diabetes Care, 7, 163, 10.2337/diacare.7.2.163 · DOI
  85. Rosenbloom, 1981, Limited joint mobility in childhood diabetes mellitus indicates increased risk for microvascular disease, N Engl J Med, 305, 191, 10.1056/NEJM198107233050403 · DOI
  86. Seibold, 1982, Digital sclerosis in children with insulin-dependent diabetes mellitus, Arthritis Rheum, 25, 1357, 10.1002/art.1780251112 · DOI
  87. Soler, 1984, Fibrous disease of the breast, thyroiditis, and cheiroarthropathy in type I diabetes mellitus, Lancet, 1, 193, 10.1016/S0140-6736(84)92114-7 · DOI
  88. Bednarska-Zytko, 1999, “Praying hands” of Albrecht Durer regarded by physicians, Arch Hist Filoz Med, 62, 201
  89. Laurberg, 2012, Thyroid function and obesity, Eur Thyroid J, 1, 159, 10.1159/000342994 · DOI
  90. Bischoff, 2008, Eosinophilic fasciitis: demographics, disease pattern and response to treatment: report of 12 cases and review of the literature, Int J Dermatol, 47, 29, 10.1111/j.1365-4632.2007.03544.x · DOI
  91. Fruchter, 2017, Groove sign of eosinophilic fasciitis, J Clin Rheumatol, 23, 169, 10.1097/RHU.0000000000000524 · DOI
  92. Lakhanpal, 1988, Eosinophilic fasciitis: clinical spectrum and therapeutic response in 52 cases, Semin Arthritis Rheum, 17, 221, 10.1016/0049-0172(88)90008-X · DOI
  93. Endo, 2007, Eosinophilic fasciitis: report of two cases and a systematic review of the literature dealing with clinical variables that predict outcome, Clin Rheumatol, 26, 1445, 10.1007/s10067-006-0525-6 · DOI
  94. Chaudhary, 2004, Acquired amegakaryocytic thrombocytopenia purpura and eosinophilic fasciitis: a long relapsing and remitting course, Am J Hematol, 75, 146, 10.1002/ajh.10475 · DOI
  95. Toquet, 2003, In situ immunophenotype of the inflammatory infiltrate in eosinophilic fasciitis, J Rheumatol, 30, 1811
  96. Viallard, 2001, Analysis of leukemia inhibitory factor, type 1 and type 2 cytokine production in patients with eosinophilic fasciitis, J Rheumatol, 28, 75
  97. Jinnin, 2004, Serum levels of tissue inhibitor of metalloproteinase-1 and 2 in patients with eosinophilic fasciitis, Br J Dermatol, 151, 407, 10.1111/j.1365-2133.2004.06062.x · DOI
  98. Asano, 2014, Serum levels of matrix metalloproteinase-13 in patients with eosinophilic fasciitis, J Dermatol, 41, 746, 10.1111/1346-8138.12563 · DOI
  99. Shulman, 1984, Diffuse fasciitis with hypergammaglobulinemia and eosinophilia: a new syndrome?, J Rheumatol, 11, 569
  100. Baumann, 2005, MRI for diagnosis and monitoring of patients with eosinophilic fasciitis, AJR Am J Roentgenol, 184, 169, 10.2214/ajr.184.1.01840169 · DOI
  101. Pinal-Fernandez, 2014, Diagnosis and classification of eosinophilic fasciitis, Autoimmun Rev, 13, 379, 10.1016/j.autrev.2014.01.019 · DOI
  102. Jinnin, 2018, Diagnostic criteria, severity classification and guidelines of eosinophilic fasciitis, J Dermatol, 45, 881, 10.1111/1346-8138.14160 · DOI
  103. Chan, 2004, Ultrasound and magnetic resonance imaging features in a patient with eosinophilic fasciitis, Australas Radiol, 48, 414, 10.1111/j.0004-8461.2004.01331.x · DOI
  104. Mondal, 2015, Ultrasound is a useful adjunct in diagnosis of eosinophilic fasciitis, Rheumatology (Oxford), 54, 2041, 10.1093/rheumatology/kev290 · DOI
  105. Cheriet, 2011, Positron emission tomography in the diagnosis of eosinophilic fasciitis, QJM, 104, 987, 10.1093/qjmed/hcq218 · DOI
  106. Kim, 2014, Usefulness of FDG PET/CT in the diagnosis of eosinophilic fasciitis, Clin Nucl Med, 39, 801, 10.1097/RLU.0000000000000260 · DOI
  107. Wright, 2016, Epidemiology and treatment of eosinophilic fasciitis: an analysis of 63 patients from 3 tertiary care centers, JAMA Dermatol, 152, 97, 10.1001/jamadermatol.2015.3648 · DOI
  108. Berianu, 2015, Eosinophilic fasciitis: clinical characteristics and response to methotrexate, Int J Rheum Dis, 18, 91, 10.1111/1756-185X.12499 · DOI
  109. Lebeaux, 2012, Eosinophilic fasciitis (Shulman disease): new insights into the therapeutic management from a series of 34 patients, Rheumatology (Oxford), 51, 557, 10.1093/rheumatology/ker366 · DOI
  110. Mertens, 2016, High-dose intravenous pulse methotrexate in patients with eosinophilic fasciitis, JAMA Dermatol, 152, 1262, 10.1001/jamadermatol.2016.2873 · DOI
  111. Mazori, 2017, Eosinophilic fasciitis: an updated review on diagnosis and treatment, Curr Rheumatol Rep, 19, 74, 10.1007/s11926-017-0700-6 · DOI
  112. Shimizu, 2002, Diagnosis of Werner syndrome by immunoblot analysis, Clin Exp Dermatol, 27, 157, 10.1046/j.1365-2230.2002.00996.x · DOI
  113. Goto, 2000, Werner’s syndrome: from clinics to genetics, Clin Exp Rheumatol, 18, 760
  114. Epstein, 1966, Werner’s syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process, Medicine (Baltimore), 45, 177, 10.1097/00005792-196605000-00001 · DOI
  115. Ozdirim, 1996, Cockayne syndrome: review of 25 cases, Pediatr Neurol, 15, 312, 10.1016/S0887-8994(96)00229-9 · DOI
  116. Rothblum-Oviatt, 2016, Ataxia telangiectasia: a review, Orphanet J Rare Dis, 11, 159, 10.1186/s13023-016-0543-7 · DOI
  117. Berg, 1987, Rothmund-Thomson syndrome. A case report, phototesting, and literature review, J Am Acad Dermatol, 17, 332, 10.1016/S0190-9622(87)70207-2 · DOI
  118. Corso, 2005, Molecular cytogenetic insights into the ageing syndrome Hutchinson-Gilford Progeria (HGPS), Cytogenet Genome Res, 111, 27, 10.1159/000085666 · DOI
  119. Eriksson, 2003, Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome, Nature, 423, 293, 10.1038/nature01629 · DOI · Paper page
  120. Arboleda, 2007, The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?, Exp Gerontol, 42, 939, 10.1016/j.exger.2007.07.004 · DOI
  121. Murdoch, 1985, Ageing in Down’s syndrome, Lancet, 1, 1214, 10.1016/S0140-6736(85)92890-9 · DOI
  122. Jacob, 2006, Laminopathies: multisystem dystrophy syndromes, Mol Genet Metab, 87, 289, 10.1016/j.ymgme.2005.10.018 · DOI
  123. Navarro, 2004, Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy, Hum Mol Genet, 13, 2493, 10.1093/hmg/ddh265 · DOI
  124. Witt, 1986, Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia, Am J Med Genet, 24, 631, 10.1002/ajmg.1320240408 · DOI
  125. Nijsten, 2002, Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin, Pediatr Dermatol, 19, 67, 10.1046/j.1525-1470.2002.00029.x · DOI
  126. de Groot, 1980, Familial acrogeria (Gottron), Br J Dermatol, 103, 213, 10.1111/j.1365-2133.1980.tb06595.x · DOI
  127. Blaszczyk, 2000, Acrogeria of the Gottron type in a mother and son, Eur J Dermatol, 10, 36
  128. Hashimoto, 2004, Acrogeria (Gottron type): a vascular disorder?, Br J Dermatol, 151, 497, 10.1111/j.1365-2133.2004.06113.x · DOI
  129. Hunzelmann, 1997, Transforming growth factor-beta reverses deficient expression of type (I) collagen in cultured fibroblasts of a patient with metageria, Biochim Biophys Acta, 1360, 64, 10.1016/S0925-4439(96)00067-1 · DOI
  130. Dillnhunt, 1936, Melorheostosis Leri: a case report, J Bone Joint Surg Am, 18, 991
  131. Smith, 2017, Melorheostosis: a retrospective clinical analysis of 24 patients at the Mayo Clinic, PM R, 9, 283, 10.1016/j.pmrj.2016.07.530 · DOI
  132. Freyschmidt, 2001, Melorheostosis: a review of 23 cases, Eur Radiol, 11, 474, 10.1007/s003300000562 · DOI
  133. Hellemans, 2006, Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis, Hum Mutat, 27, 290, 10.1002/humu.9403 · DOI
  134. Dhillon, 2017, Melorheostosis-foot and ankle perspective, Foot (Edinb), 31, 44, 10.1016/j.foot.2017.02.004 · DOI
  135. Chou, 2012, Surgical treatment of melorheostosis: report of two cases, Kaohsiung J Med Sci, 28, 285, 10.1016/j.kjms.2011.11.009 · DOI
  136. Donáth, 2002, Atypical form of active melorheostosis and its treatment with bisphosphonate, Skelet Radiol, 31, 709, 10.1007/s00256-002-0576-y · DOI
  137. Hollick, 2010, Melorheostosis and its treatment with intravenous zoledronic acid, BMJ Case Rep, 2010, 10.1136/bcr.04.2009.1757 · DOI
  138. Byberg, 2018, Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report, J Med Case Rep, 12, 278, 10.1186/s13256-018-1820-y · DOI
  139. Christ, 2003, Asbjorn Folling and the discovery of phenylketonuria, J Hist Neurosci, 12, 44, 10.1076/jhin.12.1.44.13788 · DOI
  140. Fistarol, 2010, Disorders of pigmentation, J Dtsch Dermatol Ges, 8, 187, 10.1111/j.1610-0387.2009.07137.x · DOI
  141. Foti, 2008, Scleroderma-like disorders, Autoimmun Rev, 7, 331, 10.1016/j.autrev.2007.12.004 · DOI
  142. Baston, 2002, The Guthrie test. Midwifery basics, Pract Midwife, 5, 32
  143. Jablonska, 2004, Stiff skin syndrome is highly heterogeneous, and congenital fascial dystrophy is its distinct subset, Pediatr Dermatol, 21, 508, 10.1111/j.0736-8046.2004.21422.x · DOI
  144. Deng, 2016, Four new cases of stiff skin syndrome with unusual presentations, J Eur Acad Dermatol Venereol, 30, 163, 10.1111/jdv.12657 · DOI
  145. Guiducci, 2009, Stiff skin syndrome: evidence for an inflammation-independent fibrosis?, Rheumatology (Oxford), 48, 849, 10.1093/rheumatology/kep118 · DOI
  146. Bandinelli, 2013, Stiff skin syndrome and myeloma successfully treated with autologous haematopoietic stem cell transplantation (HSCT), Clin Exp Rheumatol, 31, 181
  147. Halverstam, 2013, Stiff skin syndrome in a newborn infant, Int J Dermatol, 52, 993, 10.1111/j.1365-4632.2012.05478.x · DOI
  148. Kurtzman, 2016, Segmental stiff skin syndrome (SSS): two additional cases with a positive response to mycophenolate mofetil and physical therapy, J Am Acad Dermatol, 75, e237, 10.1016/j.jaad.2016.05.047 · DOI
  149. Cat, 1974, Letter: Parana hard-skin syndrome: study of seven families, Lancet, 1, 215, 10.1016/S0140-6736(74)92515-X · DOI
  150. Azevedo, 2009, Stiff skin syndrome versus scleroderma: a report of two cases, Clin Rheumatol, 28, 1107, 10.1007/s10067-009-1178-z · DOI
  151. Ferreli, 2017, Cutaneous manifestations of scleroderma and scleroderma-like disorders: a comprehensive review, Clin Rev Allergy Immunol, 53, 306, 10.1007/s12016-017-8625-4 · DOI
  152. Munoz-Santos, 2010, Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients, Medicine (Baltimore), 89, 69, 10.1097/MD.0b013e3181d50928 · DOI
  153. Ghosh, 2008, Porphyria cutanea tarda, J Assoc Physicians India, 56, 441
  154. Szlendak, 2016, Clinical, biochemical and molecular characteristics of the main types of porphyria, Adv Clin Exp Med, 25, 361, 10.17219/acem/58955 · DOI
  155. Gonzalez-Estrada, 2014, Sporadic porphyria cutanea tarda: treatment with chloroquine decreases hyperglycemia and reduces development of metabolic syndrome, Eur J Intern Med, 25, e76, 10.1016/j.ejim.2014.02.009 · DOI
  156. Chou, 2012, Successful treatment of refractory blisters in porphyria cutanea tarda with topical pimecrolimus combined with oral hydroxychloroquine: an alternative to phlebotomy in patients with renal insufficiency and anemia, Eur J Dermatol, 22, 567, 10.1684/ejd.2012.1758 · DOI
  157. Singal, 2012, Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda, Clin Gastroenterol Hepatol, 10, 1402, 10.1016/j.cgh.2012.08.038 · DOI
  158. D’Cruz, 2000, Autoimmune diseases associated with drugs, chemicals and environmental factors, Toxicol Lett, 112-113, 421, 10.1016/S0378-4274(99)00220-9 · DOI
  159. Czirjak, 1989, Clinical findings in 61 patients with progressive systemic sclerosis, Acta Derm Venereol, 69, 533
  160. Czirjak, 2002, Exposure to solvents in female patients with scleroderma, Clin Rheumatol, 21, 114, 10.1007/PL00011216 · DOI
  161. Cowper, 2001, Nephrogenic fibrosing dermopathy, Am J Dermatopathol, 23, 383, 10.1097/00000372-200110000-00001 · DOI
  162. Cowper, 2003, Nephrogenic fibrosing dermopathy: the first 6 years, Curr Opin Rheumatol, 15, 785, 10.1097/00002281-200311000-00017 · DOI
  163. LeBoit, 2003, What nephrogenic fibrosing dermopathy might be, Arch Dermatol, 139, 928, 10.1001/archderm.139.7.928 · DOI
  164. Ting, 2003, Nephrogenic fibrosing dermopathy with systemic involvement, Arch Dermatol, 139, 903, 10.1001/archderm.139.7.903 · DOI
  165. Galan, 2006, Nephrogenic systemic fibrosis (nephrogenic fibrosing dermopathy), Curr Opin Rheumatol, 18, 614, 10.1097/01.bor.0000245725.94887.8d · DOI
  166. Grobner, 2008, Patient characteristics and risk factors for nephrogenic systemic fibrosis following gadolinium exposure, Semin Dial, 21, 135, 10.1111/j.1525-139X.2007.00406.x · DOI
  167. Grobner, 2006, Gadolinium—a specific trigger for the development of nephrogenic fibrosing dermopathy and nephrogenic systemic fibrosis?, Nephrol Dial Transplant, 21, 1104, 10.1093/ndt/gfk062 · DOI
  168. Stollberger, 2006, Dermal and extra-dermal manifestations of gadolinium-triggered nephrogenic fibrosing dermopathy, Nephrol Dial Transplant, 21, 3604, 10.1093/ndt/gfl592 · DOI
  169. Schieda, 2018, Gadolinium-based contrast agents in kidney disease: comprehensive review and clinical practice guideline issued by the Canadian Association of Radiologists, Can Assoc Radiol J, 69, 136, 10.1016/j.carj.2017.11.002 · DOI
  170. Fraum, 2017, Gadolinium-based contrast agents: a comprehensive risk assessment, J Magn Reson Imaging, 46, 338, 10.1002/jmri.25625 · DOI
  171. Girardi, 2011, Nephrogenic systemic fibrosis: clinicopathological definition and workup recommendations, J Am Acad Dermatol, 65, 1095, 10.1016/j.jaad.2010.08.041 · DOI
  172. Khawaja, 2015, Revisiting the risks of MRI with gadolinium based contrast agents-review of literature and guidelines, Insights Imaging, 6, 553, 10.1007/s13244-015-0420-2 · DOI
  173. Becker, 2010, The German registry for nephrogenic systemic fibrosis: findings from 23 patients, Clin Nephrol, 73, 426, 10.5414/CNP73426 · DOI
  174. Kay, 2010, Gadolinium and systemic fibrosis: guilt by association, Ann Rheum Dis, 69, 1895, 10.1136/ard.2010.134791 · DOI
  175. Janin-Mercier, 1984, Immunohistologic and ultrastructural study of the sclerotic skin in chronic graft-versus-host disease in man, Am J Pathol, 115, 296
  176. Wolff, 2002, Progressive interstitial fibrosis of the lung in sclerodermoid chronic graft-versus-host disease, Bone Marrow Transplant, 29, 357, 10.1038/sj.bmt.1703386 · DOI
  177. Moreno, 2003, Bullous scleroderma-like changes in chronic graft-versus-host disease, J Eur Acad Dermatol Venereol, 17, 200, 10.1046/j.1468-3083.2003.00606.x · DOI
  178. Furst, 1979, A syndrome resembling progressive systemic sclerosis after bone marrow transplantation. A model for scleroderma?, Arthritis Rheum, 22, 904, 10.1002/art.1780220815 · DOI
  179. Siimes, 1977, Scleroderma-like graft-versus-host disease as late consequence of bone-marrow grafting, Lancet, 2, 831, 10.1016/S0140-6736(77)90772-3 · DOI
  180. Filipovich, 2005, National Institutes of Health consensus development project on criteria for clinical trials in chronic graft-versus-host disease: I. Diagnosis and staging working group report, Biol Blood Marrow Transplant, 11, 945, 10.1016/j.bbmt.2005.09.004 · DOI
  181. Filipovich, 2008, Diagnosis and manifestations of chronic graft-versus-host disease, Best Pract Res Clin Haematol, 21, 251, 10.1016/j.beha.2008.02.008 · DOI
  182. Schaffer, 2005, Lichen sclerosus and eosinophilic fasciitis as manifestations of chronic graft-versus-host disease: expanding the sclerodermoid spectrum, J Am Acad Dermatol, 53, 591, 10.1016/j.jaad.2005.06.015 · DOI
  183. Jagasia, 2015, National Institutes of Health consensus development project on criteria for clinical trials in chronic graft-versus-host disease: I. The 2014 Diagnosis and Staging Working Group report, Biol Blood Marrow Transplant, 21, 389, 10.1016/j.bbmt.2014.12.001 · DOI
  184. Saurat, 1981, Cutaneous manifestations of graft-versus-host disease, Int J Dermatol, 20, 249, 10.1111/j.1365-4362.1981.tb04329.x · DOI
  185. Shulman, 2015, NIH Consensus development project on criteria for clinical trials in chronic graft-versus-host disease: II. The 2014 Pathology Working Group report, Biol Blood Marrow Transplant, 21, 589, 10.1016/j.bbmt.2014.12.031 · DOI
  186. Cepeda, 2004, Autoantibodies in systemic sclerosis and fibrosing syndromes: clinical indications and relevance, Curr Opin Rheumatol, 16, 723, 10.1097/01.bor.0000144760.37777.fa · DOI
  187. Flowers, 2015, How we treat chronic graft-versus-host disease, Blood, 125, 606, 10.1182/blood-2014-08-551994 · DOI
  188. Scarisbrick, 2008, U.K. consensus statement on the use of extracorporeal photopheresis for treatment of cutaneous T-cell lymphoma and chronic graft-versus-host disease, Br J Dermatol, 158, 659, 10.1111/j.1365-2133.2007.08415.x · DOI
  189. Rafei, 2017, A critical appraisal of extracorporeal photopheresis as a treatment modality for acute and chronic graft-versus-host disease, Biomedicines, 5, 10.3390/biomedicines5040060 · DOI
  190. Wolff, 2011, Consensus conference on clinical practice in chronic GVHD: second-line treatment of chronic graft-versus-host disease, Biol Blood Marrow Transplant, 17, 1, 10.1016/j.bbmt.2010.05.011 · DOI
  191. Kharfan-Dabaja, 2009, Efficacy of rituximab in the setting of steroid-refractory chronic graft-versus-host disease: a systematic review and meta-analysis, Biol Blood Marrow Transplant, 15, 1005, 10.1016/j.bbmt.2009.04.003 · DOI
  192. Olivieri, 2009, Imatinib for refractory chronic graft-versus-host disease with fibrotic features, Blood, 114, 709, 10.1182/blood-2009-02-204156 · DOI
  193. Baird, 2015, Imatinib mesylate for the treatment of steroid-refractory sclerotic-type cutaneous chronic graft-versus-host disease, Biol Blood Marrow Transplant, 21, 1083, 10.1016/j.bbmt.2015.03.006 · DOI
  194. Khoury, 2018, Ruxolitinib: a steroid sparing agent in chronic graft-versus-host disease, Bone Marrow Transplant, 53, 826, 10.1038/s41409-017-0081-5 · DOI
  195. Zeiser, 2015, Ruxolitinib in corticosteroid-refractory graft-versus-host disease after allogeneic stem cell transplantation: a multicenter survey, Leukemia, 29, 2062, 10.1038/leu.2015.212 · DOI
  196. Modi, 2019, Ruxolitinib as salvage therapy for chronic graft-versus-host disease, Biol Blood Marrow Transplant, 25, 265, 10.1016/j.bbmt.2018.09.003 · DOI
  197. Ratnavel, 1994, Scleroderma and the carcinoid syndrome, Clin Exp Dermatol, 19, 83, 10.1111/j.1365-2230.1994.tb01126.x · DOI
  198. Becher, 2013, Cutaneous scleroderma and malignant carcinoid syndrome, Clin Exp Dermatol, 38, 310, 10.1111/ced.12046 · DOI
  199. Shrestha, 2014, Scleredema-an uncommon cause of swelling in a child-a case report and review of the literature, BMC Res Notes, 7, 571, 10.1186/1756-0500-7-571 · DOI

Cited by

Sorted by citations

Metadata

Authors
Varjú, C., Kumánovics, G., Czirják, L., Matucci-Cerinic, M., & Minier, T.
Affiliations
University of Pecs (HU)
Corresponding author
Minier, Tünde
Venue
Clinics in Dermatology
Publisher
Elsevier BV
Published
2020-03
Volume
38
Issue
2
Pages
235-249
ISSN
0738-081X (ISSN-L)
OpenAlex
W2982170050
Cited by
20
References
1
Citations by year
2025: 1 · 2024: 1 · 2023: 6 · 2022: 3 · 2021: 8
FWCI
2.22
Type
journal article
Language
en
Open access
Locations
  • Clinics in Dermatology (publishedVersion)
  • PubMed (publishedVersion)
  • Florence Research (University of Florence) (submittedVersion)
  • Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion, cc-by-nc-nd)
Topics
  • Health Sciences › Medicine › Rheumatology › Systemic Sclerosis and Related Diseases
  • Health Sciences › Medicine › Rheumatology › Eosinophilic Disorders and Syndromes
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Keywords
systemic sclerosis, differential diagnosis, scleromyxedema, scleredema, eosinophilic fasciitis, nephrogenic systemic fibrosis, POEMS syndrome, chronic graft-versus-host disease, Hutchinson-Gilford progeria syndrome, Werner syndrome, stiff skin syndrome, drug-induced scleroderma, skin biopsy
MeSH terms
Biopsy, Diagnosis, Differential, Humans, Scleroderma, Systemic, Skin, Syndrome

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review