08-15-2021-0023 - Progressive osseous heteroplasia

Progressive osseous heteroplasia

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Progressive osseous heteroplasia
Specialty	Dermatology

Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification.^[1]

According to the Progressive Osseous Heteroplasia Association:

Progressive Osseous Heteroplasia (POH) is a rare genetic condition in which the body makes extra bone in locations where bone should not form. Extra bone develops inside skin, subcutaneous tissue (fat tissue beneath the skin), muscles, tendons, and ligaments. This ”out of place extra bone formation” is commonly referred to as heterotopic ossification. In people with POH, nodules and lace-like webs of extra bone extend from the skin into the subcutaneous fat and deep connective tissues, and may cross joints. Extra bone formation near the joints may lead to stiffness, locking, and permanent immobility.”^[2]

It is associated with GNAS.^[3]

See also[edit]

• Fibrodysplasia ossificans progressiva
• Punctate porokeratosis
• List of cutaneous conditions
• Pseudopseudohypoparathyroidism

References[edit]

1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ "About POH Disease". Retrieved 2012-06-15.
3. ^ Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ (July 2008). "Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification". Am. J. Med. Genet. A. 146A (14): 1788–96. doi:10.1002/ajmg.a.32346. PMC 2564798. PMID 18553568.

External links[edit]

Classification	D OMIM: 166350 MeSH: C562735 DiseasesDB: 34694

hide v t e Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators	GTPase-activating protein Neurofibromatosis type I Watson syndrome Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1
G protein	Heterotrimeic cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2 Monomeric RAS: HRAS  Costello syndrome KRAS  Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7  Charcot–Marie–Tooth disease RAB23  Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2  Neutrophil immunodeficiency syndrome ARF: SAR1B  Chylomicron retention disease ARL13B  Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3
MAP kinase	Cardiofaciocutaneous syndrome
Other kinase/phosphatase	Tyrosine kinase BTK  X-linked agammaglobulinemia ZAP70  ZAP70 deficiency Serine/threonine kinase RPS6KA3  Coffin-Lowry syndrome CHEK2  Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11  Peutz–Jeghers syndrome DMPK  Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1  Oguchi disease 2 WNK4/WNK1  Pseudohypoaldosteronism 2 Tyrosine phosphatase PTEN  Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1  X-linked myotubular myopathy PTPN11  Noonan syndrome 1 LEOPARD syndrome Metachondromatosis
Signal transducing adaptor proteins	EDARADD  EDARADD Hypohidrotic ectodermal dysplasia SH3BP2  Cherubism LDB3  Zaspopathy
Other	NF2  Neurofibromatosis type II NOTCH3  CADASIL PRKAR1A  Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH  PRKCSH Polycystic liver disease XIAP  XIAP2
See also intracellular signaling peptides and proteins

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Categories: 

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• Skeletal disorders
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• Cutaneous condition stubs

 https://en.wikipedia.org/wiki/Progressive_osseous_heteroplasia