Progressive osseous heteroplasia

Short description: Rare genetic condition characterised by cutaneous or subcutaneous ossification

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]

A telltale symptom of POH is osteoma cutis under the skin of a newborn.[4] It was discovered in 1994 by physician Frederick Kaplan.[5]

## Contents

* 1 Diagnosis
* 2 See also
* 3 References
* 4 External links

## Diagnosis

Patients with POH have a distinctly different manifestation of symptoms than those with fibrodysplasia ossificans progressiva (FOP), though heterotopic ossification appears in both diseases. They lack the congenital abnormality of the big toe that is a diagnostic feature for FOP. People with POH also have ossification of the skin during infancy, which does not occur in FOP. Also, the pattern of ossification differs in POH, spreading in an intramembranous fashion rather than endochondral.[6]

## See also

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

## References

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". http://www.pohdisease.org/ABOUT_POH_DISEASE/.
3. ↑ "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. July 2008. doi:10.1002/ajmg.a.32346. PMID 18553568.
4. ↑ Karen Kreeger (October 9, 2017). "Piecing Together the Puzzle of a Rare-Among-Rare Bone Disorder". University of Pennsylvania Health System. https://www.pennmedicine.org/news/news-blog/2017/october/piecing-together-the-puzzle-of-a-rare-among-rare-bone-disorder.
5. ↑ Kaplan, F. S.; Craver, R.; MacEwen, G. D.; Gannon, F. H.; Finkel, G.; Hahn, G.; Tabas, J.; Gardner, R. J. et al. (1994). "Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases". Journal of Bone and Joint Surgery 76 (3): 425–436. doi:10.2106/00004623-199403000-00013. PMID 8126048.
6. ↑ Kaplan, Frederick S.; Shore, Eileen M. (2000). "Progressive Osseous Heteroplasia". Journal of Bone and Mineral Research 15 (11): 2084–2094. doi:10.1359/jbmr.2000.15.11.2084. PMID 11092391.

## External links

* Ansede, Manuel (2023-07-18). "The enigma of the girl who turns into bone while her identical twin remains healthy". https://english.elpais.com/science-tech/2023-07-18/the-enigma-of-the-girl-who-turns-into-bone-while-her-identical-twin-remains-healthy.html.

Classification|

* OMIM: 166350
* DiseasesDB: 34694

|

* 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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