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Stiff skin

MedGen UID:
478445
Concept ID:
C3276815
Finding
Synonym: Indurated skin
 
HPO: HP:0030053

Definition

An induration (hardening) of the skin [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Stiff skin

Conditions with this feature

Myhre syndrome
MedGen UID:
167103
Concept ID:
C0796081
Disease or Syndrome
Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild-to-moderate intellectual disability, and in some instances, autistic-like behaviors. Organ systems primarily involved include: cardiovascular (congenital heart defects, long- and short-segment stenosis of the aorta and peripheral arteries, pericardial effusion, constrictive pericarditis, restrictive cardiomyopathy, and hypertension); respiratory (choanal stenosis, laryngotracheal narrowing, obstructive airway disease, or restrictive pulmonary disease), gastrointestinal (pyloric stenosis, duodenal strictures, severe constipation); and skin (thickened particularly on the hands and extensor surfaces). Additional findings include distinctive craniofacial features and skeletal involvement (intrauterine growth restriction, short stature, limited joint range of motion). To date, 55 individuals with molecularly confirmed Myhre syndrome have been reported.
Arteriosclerosis, severe juvenile
MedGen UID:
395330
Concept ID:
C1859725
Disease or Syndrome
Stiff skin syndrome
MedGen UID:
348877
Concept ID:
C1861456
Disease or Syndrome
Stiff skin syndrome (SSKS) is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010). Patients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020).
Vasculitis due to ADA2 deficiency
MedGen UID:
854497
Concept ID:
C3887654
Disease or Syndrome
Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; and PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22.

Professional guidelines

PubMed

Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
Arch Dermatol 2008 Oct;144(10):1351-9. doi: 10.1001/archderm.144.10.1351. PMID: 18936399

Recent clinical studies

Etiology

Cerejeira D, Bonito F, António AM, Cunha H
Australas J Dermatol 2021 Aug;62(3):380-382. Epub 2021 Mar 26 doi: 10.1111/ajd.13589. PMID: 33769553
Varjú C, Kumánovics G, Czirják L, Matucci-Cerinic M, Minier T
Clin Dermatol 2020 Mar-Apr;38(2):235-249. Epub 2019 Oct 24 doi: 10.1016/j.clindermatol.2019.10.010. PMID: 32513403
Myers KL, Mir A, Schaffer JV, Meehan SA, Orlow SJ, Brinster NK
J Am Acad Dermatol 2016 Jul;75(1):163-8. Epub 2016 Mar 2 doi: 10.1016/j.jaad.2016.01.038. PMID: 26944597
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104
Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
Arch Dermatol 2008 Oct;144(10):1351-9. doi: 10.1001/archderm.144.10.1351. PMID: 18936399

Diagnosis

Varjú C, Kumánovics G, Czirják L, Matucci-Cerinic M, Minier T
Clin Dermatol 2020 Mar-Apr;38(2):235-249. Epub 2019 Oct 24 doi: 10.1016/j.clindermatol.2019.10.010. PMID: 32513403
Bolar N, Van Laer L, Loeys BL
Curr Opin Pediatr 2012 Aug;24(4):498-504. doi: 10.1097/MOP.0b013e3283557d4c. PMID: 22705998
Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
Arch Dermatol 2008 Oct;144(10):1351-9. doi: 10.1001/archderm.144.10.1351. PMID: 18936399
Geng S, Lei X, Toyohara JP, Zhan P, Wang J, Tan S
J Eur Acad Dermatol Venereol 2006 Jul;20(6):729-32. doi: 10.1111/j.1468-3083.2006.01619.x. PMID: 16836505
Ferrari D, Rossi R, Donzelli O
Chir Organi Mov 2005 Jan-Mar;90(1):69-73. PMID: 16422231

Therapy

Lin Z, Pei Y, Tang X, Rong L, Chen L, Jiang X
Dermatol Ther 2022 Aug;35(8):e15633. Epub 2022 Jun 21 doi: 10.1111/dth.15633. PMID: 35686816
Ventéjou S, Schwieger-Briel A, Nicolai R, Christen-Zaech S, Schnider C, Hofer M, Bogiatzi S, Hohl D, De Benedetti F, Morren MA
Front Immunol 2021;12:656407. Epub 2021 Mar 9 doi: 10.3389/fimmu.2021.656407. PMID: 33767715Free PMC Article
Rangu S, Rubin AI, Li D, Castelo-Soccio L
Clin Exp Dermatol 2020 Jul;45(5):658-660. Epub 2020 Mar 25 doi: 10.1111/ced.14205. PMID: 32212274
Maillet-Lebel N, Kokta V, Coulombe J, Powell J
Pediatr Dermatol 2018 Jan;35(1):e66-e67. Epub 2017 Nov 6 doi: 10.1111/pde.13330. PMID: 29110325
Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
Arch Dermatol 2008 Oct;144(10):1351-9. doi: 10.1001/archderm.144.10.1351. PMID: 18936399

Prognosis

Ogunmakin K, Vangipuram R, Sturgeon A, Shimizu I
Dermatol Online J 2015 Sep 17;21(9) PMID: 26437281
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104
Wei J, Bhattacharyya S, Tourtellotte WG, Varga J
Autoimmun Rev 2011 Mar;10(5):267-75. Epub 2010 Sep 21 doi: 10.1016/j.autrev.2010.09.015. PMID: 20863909Free PMC Article
Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
Arch Dermatol 2008 Oct;144(10):1351-9. doi: 10.1001/archderm.144.10.1351. PMID: 18936399
Del Rosso A, Cerinic MM, De Giorgio F, Minari C, Rotella CM, Seghieri G
Curr Diabetes Rev 2006 Nov;2(4):455-66. doi: 10.2174/1573399810602040455. PMID: 18220648

Clinical prediction guides

Starr LJ, Lindsay ME, Perry D, Gheewalla G, VanderLaan PA, Majid A, Strange C, Costea GC, Lungu A, Lin AE
Pediatr Dev Pathol 2022 Nov-Dec;25(6):611-623. Epub 2022 Sep 17 doi: 10.1177/10935266221079569. PMID: 36120950
Wang LW, Kutz WE, Mead TJ, Beene LC, Singh S, Jenkins MW, Reinhardt DP, Apte SS
Matrix Biol 2019 Apr;77:117-128. Epub 2018 Sep 7 doi: 10.1016/j.matbio.2018.09.004. PMID: 30201140Free PMC Article
Ziemek J, Man A, Hinchcliff M, Varga J, Simms RW, Lafyatis R
Rheumatology (Oxford) 2016 May;55(5):911-7. Epub 2016 Feb 15 doi: 10.1093/rheumatology/kew003. PMID: 26880832Free PMC Article
Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
Arch Dermatol 2008 Oct;144(10):1351-9. doi: 10.1001/archderm.144.10.1351. PMID: 18936399
Ferrari D, Rossi R, Donzelli O
Chir Organi Mov 2005 Jan-Mar;90(1):69-73. PMID: 16422231

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