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Subcutaneous calcification

MedGen UID:
120484
Concept ID:
C0263625
Disease or Syndrome
Synonyms: Skin calcification; Subcutaneous calcinosis
SNOMED CT: Subcutaneous calcification (17141001); Subcutaneous calcinosis (17141001)
 
HPO: HP:0007618

Definition

Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSubcutaneous calcification

Conditions with this feature

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.
Hereditary sclerosing poikiloderma
MedGen UID:
91006
Concept ID:
C0343094
Congenital Abnormality
A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.
Tumoral calcinosis, hyperphosphatemic, familial, 2
MedGen UID:
1640532
Concept ID:
C4693863
Disease or Syndrome
Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.
Deafness, cataract, impaired intellectual development, and polyneuropathy
MedGen UID:
1781637
Concept ID:
C5543482
Disease or Syndrome
Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area (Kroll-Hermi et al., 2020).

Professional guidelines

PubMed

Hayden MR, Goldsmith DJ
Semin Dial 2010 May-Jun;23(3):258-62. doi: 10.1111/j.1525-139X.2010.00738.x. PMID: 20636917

Recent clinical studies

Etiology

Li S, Sun C, Zhang L, Han J, Yang H, Gao S, He L, Zhang P, Lu X, Shu X, Wang G
J Rheumatol 2022 Aug;49(8):922-928. Epub 2022 Jun 15 doi: 10.3899/jrheum.211234. PMID: 35705242
Chander S, Gordon P
Curr Opin Rheumatol 2012 Mar;24(2):158-64. doi: 10.1097/BOR.0b013e32834ff5cd. PMID: 22227955
Tokoro S, Satoh T, Okubo Y, Igawa K, Yokozeki H
Acta Derm Venereol 2009;89(5):505-8. doi: 10.2340/00015555-0680. PMID: 19734978
Zaka Z, Fodor J, Udvarhelyi N, Orosz Z, Kásler M
Pathol Oncol Res 2008 Dec;14(4):485-8. Epub 2008 Aug 28 doi: 10.1007/s12253-008-9062-8. PMID: 18752059
Itoh O, Nishimaki T, Itoh M, Ohira H, Irisawa A, Kaise S, Kasukawa R
Intern Med 1998 Apr;37(4):421-5. doi: 10.2169/internalmedicine.37.421. PMID: 9630208

Diagnosis

Viragh K, Khoshchehreh M, Zung T, Ni C
Clin Nucl Med 2022 Feb 1;47(2):e199-e200. doi: 10.1097/RLU.0000000000003966. PMID: 35006120
Kinoshita K, Minagawa M, Takatani T, Takatani R, Ohashi M, Kohno Y
Endocr J 2011;58(10):879-87. Epub 2011 Aug 11 doi: 10.1507/endocrj.k10e-364. PMID: 21836370
Honjo S, Yokote K, Fujimoto M, Takemoto M, Kobayashi K, Maezawa Y, Shimoyama T, Satoh S, Koshizaka M, Takada A, Irisuna H, Saito Y
Rejuvenation Res 2008 Aug;11(4):809-19. doi: 10.1089/rej.2007.0649. PMID: 18729813
Minami A, Suda K, Kaneda K, Kumakiri M
J Hand Surg Br 1994 Oct;19(5):638-41. doi: 10.1016/0266-7681(94)90134-1. PMID: 7822928
Goel KM, Shanks RA
Arch Dis Child 1974 Nov;49(11):861-6. doi: 10.1136/adc.49.11.861. PMID: 4441121Free PMC Article

Therapy

Hayden MR, Goldsmith DJ
Semin Dial 2010 May-Jun;23(3):258-62. doi: 10.1111/j.1525-139X.2010.00738.x. PMID: 20636917
Zaka Z, Fodor J, Udvarhelyi N, Orosz Z, Kásler M
Pathol Oncol Res 2008 Dec;14(4):485-8. Epub 2008 Aug 28 doi: 10.1007/s12253-008-9062-8. PMID: 18752059
Al-Hwiesh AK
Saudi J Kidney Dis Transpl 2008 Jan;19(1):82-6. PMID: 18087130
Mould TL, Roberts-Thomson PJ
Asian Pac J Allergy Immunol 2000 Dec;18(4):195-200. PMID: 11316039
Bottomley JP, Bradley J, Whitehouse GH
Br J Radiol 1974 Apr;47(556):232-5. doi: 10.1259/0007-1285-47-556-232. PMID: 4274759

Prognosis

Li S, Sun C, Zhang L, Han J, Yang H, Gao S, He L, Zhang P, Lu X, Shu X, Wang G
J Rheumatol 2022 Aug;49(8):922-928. Epub 2022 Jun 15 doi: 10.3899/jrheum.211234. PMID: 35705242
Hayden MR, Goldsmith DJ
Semin Dial 2010 May-Jun;23(3):258-62. doi: 10.1111/j.1525-139X.2010.00738.x. PMID: 20636917
Honjo S, Yokote K, Fujimoto M, Takemoto M, Kobayashi K, Maezawa Y, Shimoyama T, Satoh S, Koshizaka M, Takada A, Irisuna H, Saito Y
Rejuvenation Res 2008 Aug;11(4):809-19. doi: 10.1089/rej.2007.0649. PMID: 18729813
Itoh O, Nishimaki T, Itoh M, Ohira H, Irisawa A, Kaise S, Kasukawa R
Intern Med 1998 Apr;37(4):421-5. doi: 10.2169/internalmedicine.37.421. PMID: 9630208
Goel KM, Shanks RA
Arch Dis Child 1974 Nov;49(11):861-6. doi: 10.1136/adc.49.11.861. PMID: 4441121Free PMC Article

Clinical prediction guides

Caggiati A, Mosti G
J Vasc Surg Venous Lymphat Disord 2022 May;10(3):689-696. Epub 2022 Feb 23 doi: 10.1016/j.jvsv.2022.02.008. PMID: 35217216
Ruderman I, Hewitson TD, Smith ER, Holt SG, Wigg B, Toussaint ND
BMC Nephrol 2020 Jul 16;21(1):279. doi: 10.1186/s12882-020-01928-0. PMID: 32677907Free PMC Article
Jin HY, Lee BH, Choi JH, Kim GH, Kim JK, Lee JH, Yu J, Yoo JH, Ko CW, Lim HH, Chung HR, Yoo HW
Clin Endocrinol (Oxf) 2011 Aug;75(2):207-13. doi: 10.1111/j.1365-2265.2011.04026.x. PMID: 21521295
Tokoro S, Satoh T, Okubo Y, Igawa K, Yokozeki H
Acta Derm Venereol 2009;89(5):505-8. doi: 10.2340/00015555-0680. PMID: 19734978
Honjo S, Yokote K, Fujimoto M, Takemoto M, Kobayashi K, Maezawa Y, Shimoyama T, Satoh S, Koshizaka M, Takada A, Irisuna H, Saito Y
Rejuvenation Res 2008 Aug;11(4):809-19. doi: 10.1089/rej.2007.0649. PMID: 18729813

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