Progressive osseous heteroplasia

Cutaneous coalesced plaques over the left shoulder
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 | edit source]

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

## References[edit | edit source]

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". Archived from the original on 2012-06-11. 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 | edit source]

Classification|

* OMIM: 166350
* DiseasesDB: 34694

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Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators|

| GTPase-activating protein|

* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis

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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

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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

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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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