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Subcutaneous ossification

MedGen UID:
811667
Concept ID:
C3805337
Finding
Synonym: Subcutaneous ossifications
 
HPO: HP:0034282

Definition

Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation. [from HPO]

Term Hierarchy

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

Conditions with this feature

Pseudohypoparathyroidism type I A
MedGen UID:
488447
Concept ID:
C3494506
Disease or Syndrome
Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.

Professional guidelines

PubMed

Jiang S, Yang Y, Song A, Jiang Y, Jiang Y, Li M, Xia W, Nie M, Wang O, Xing X
Eur J Endocrinol 2023 Nov 8;189(5):S103-S111. doi: 10.1093/ejendo/lvad142. PMID: 37837607
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
Bandeira L, Lewiecki EM, Bilezikian JP
Expert Opin Biol Ther 2017 Feb;17(2):255-263. doi: 10.1080/14712598.2017.1280455. PMID: 28064540

Recent clinical studies

Etiology

Truelove A, Mulay A, Prapa M, Casey RT, Adler AI, Offiah AC, Poole KES, Trotman J, Al Hasso N, Park SM
Am J Med Genet A 2019 Jul;179(7):1330-1337. Epub 2019 May 1 doi: 10.1002/ajmg.a.61163. PMID: 31041856

Diagnosis

Truelove A, Mulay A, Prapa M, Casey RT, Adler AI, Offiah AC, Poole KES, Trotman J, Al Hasso N, Park SM
Am J Med Genet A 2019 Jul;179(7):1330-1337. Epub 2019 May 1 doi: 10.1002/ajmg.a.61163. PMID: 31041856
Schrander DE, Welting TJ, Caron MM, Schrander JJ, van Rhijn LW, Körver-Keularts I, Schrander-Stumpel CT
J Pediatr Orthop B 2014 Sep;23(5):477-84. doi: 10.1097/BPB.0000000000000045. PMID: 24626099
Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ
Am J Med Genet A 2008 Jul 15;146A(14):1788-96. doi: 10.1002/ajmg.a.32346. PMID: 18553568Free PMC Article
Trüeb RM, Panizzon RG, Burg G
Dermatology 1993;186(3):205-9. doi: 10.1159/000247347. PMID: 8453149
Mahoney PD, McGill JE, Bleicher JJ
J Comput Tomogr 1985 Jan;9(1):61-3. doi: 10.1016/0149-936x(85)90050-5. PMID: 3918835

Prognosis

Truelove A, Mulay A, Prapa M, Casey RT, Adler AI, Offiah AC, Poole KES, Trotman J, Al Hasso N, Park SM
Am J Med Genet A 2019 Jul;179(7):1330-1337. Epub 2019 May 1 doi: 10.1002/ajmg.a.61163. PMID: 31041856

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