Progressive Osseous Heteroplasia

A rare autosomal dominant disorder characterized by dermal OSTEOGENESIS beginning in infancy, followed by increasing and extensive bone formation in deep muscle and FASCIA. Mutations in the GNAS1 gene have been identified. OMIM: 166350

Also Known As:

Networked: 53 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Pseudohypoparathyroidism
2.	Pseudopseudohypoparathyroidism
3.	Acne Vulgaris
4.	Calcinosis Cutis
5.	Progressive Osseous Heteroplasia

Experts

1.	Cohen, Philip R: 4 articles (02/2021 - 07/2011)
2.	Mantovani, Giovanna: 3 articles (01/2019 - 05/2015)
3.	Kaplan, Frederick S: 3 articles (01/2018 - 04/2003)
4.	Shore, Eileen M: 3 articles (01/2018 - 04/2003)
5.	Wang, Yan: 2 articles (01/2020 - 01/2011)
6.	Elli, Francesca M: 2 articles (01/2019 - 05/2015)
7.	Xu, Meiqi: 2 articles (01/2018 - 04/2003)
8.	Chang, Guoying: 1 article (03/2022)
9.	Ding, Yu: 1 article (03/2022)
10.	Huang, Xiaodong: 1 article (03/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Progressive Osseous Heteroplasia:

1.	5-phenylpent-4-enyl-1-hydroperoxideIBA 05/01/2009 - "We present here a case of osteoma cutis as the cardinal manifestation of AHO associated with PPHP. " 05/01/2009 - "Osteoma cutis is less common in patients with PPHP than in patients with PHP. " 01/01/2020 - "Pseudopseudohypoparathyroidism (PPHP) and progressive osseous heteroplasia (POH) are caused by paternally inherited mutations of GNAS. " 01/01/2023 - "The abnormal expression of Gsα is associated with pseudohypoparathyroidism (PHP) and related disorders, including Albright hereditary osteodystrophy (AHO), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH). " 01/01/2015 - "Paternally inherited mutations can lead either to pseudopseudohypoparathyroidism (PPHP) characterized by AHO alone, or to progressive osseous heteroplasia (POH), characterized by severe heterotopic ossification. "
2.	Hormones (Hormone)IBA 01/01/2009 - "This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We" 05/01/2015 - "Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (POH) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, short stature, mental retardation and endocrine deficiencies due to resistance to the action of different hormones. " 01/01/2012 - "Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (POH) cases have inactivating paternally inherited GNAS mutations. " 02/01/2021 - "These are divided into pseudohypoparathyroidism (PHP) types 1A and 1B, pseudo-pseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH), depending on the presence or absence of hormone resistance, Albright's hereditary osteodystrophy (AHO), and ectopic ossification. " 01/01/2019 - "Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels. "
3.	Parathyroid Hormone (Parathormone)IBA 01/01/2023 - "Human diseases associated with the GNAS gene encompass fibrous dysplasia (FD), Albright's Hereditary Osteodystrophy (AHO), parathyroid hormone(PTH) resistance, and Progressive Osseous Heteroplasia (POH), among others. " 05/01/2011 - "We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature with autosomal dominant inheritance from the father, but no dysmorphic features and no parathyroid hormone (PTH) resistance. " 01/01/2019 - "Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels. "
4.	CalciumIBA 08/21/2018 - "A 79-year-old Caucasian man without underlying kidney disease or calcium abnormalities presented with a basal cell carcinoma with osteoma cutis on the chin. " 11/01/2020 - "Here, we discuss and review relevant causes of calcium salt deposits in the skin based on a notable case of multiple primary osteoma cutis of the face in an otherwise healthy woman." 12/16/2014 - "Here we present a healthy 53-year-old man with no known abnormalities in calcium or phosphate metabolism with plate-like osteoma cutis of the scalp. " 11/01/2020 - "The development of calcium salt deposits in the skin can occur in the presence or absence of membranous ossification and are categorized into osteoma cutis (i.e., cutaneous osteoma) and calcinosis cutis. "
5.	GTP-Binding Proteins (G-Protein)IBA 03/01/2004 - "Research on fibrodysplasia ossificans progressiva also has led to the identification of the genetic cause of progressive osseous heteroplasia: inactivating mutations in the alpha subunit of the gene coding for the stimulatory G protein of adenylyl cyclase. " 04/01/2003 - "Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia."
6.	Tretinoin (Retinoic Acid)FDA LinkGeneric 09/01/2001 - "In a literature search, it was found that local application of tretinoin was successful and achieved a decrease in the number of papules over the face in all patients with multiple miliary osteoma cutis of the face; however, the length of time to achieve response varied from a few weeks to 6 months. " 09/01/2001 - "A 60-year-old woman with multiple miliary osteoma cutis of the face was treated by application of 0.05% tretinoin (all-trans-retinoic acid) cream nightly. " 09/01/2001 - "Treatment of multiple miliary osteoma cutis of the face with local application of tretinoin (all-trans-retinoic acid): a case report and review of the literature." 09/01/1999 - "Treatment of multiple miliary osteoma cutis with tretinoin gel." 09/01/2001 - "It is suggested that local application of tretinoin cream should be considered in the therapy of multiple miliary osteoma cutis of the face, particularly when the lesions are small and superficial."
7.	RetinoidsIBA 09/01/1991 - "They are grouped into eight categories: (1) inherited diseases (e.g., alkaptonuria, neurofibromatosis); (2) congenital disorders (e.g., Sturge-Weber and Proteus syndromes); (3) inflammatory conditions (e.g., dermatomyositis, sarcoidosis); (4) infections (e.g., dental sinus, syphilis); (5) neoplasias (e.g., histiocytosis, mastocytosis); (6) drug- and environment-induced (e.g., acroosteolysis, retinoid toxicity); (7) calcinosis cutis; and (8) osteoma cutis. " 08/01/1991 - "They are grouped into eight categories: (1) inherited diseases (e.g., alkaptonuria, neurofibromatosis); (2) congenital disorders (e.g., Sturge-Weber and Proteus syndromes); (3) inflammatory conditions (e.g., dermatomyositis, sarcoidosis); (4) infections (e.g., dental sinus, syphilis); (5) neoplasias (e.g., histiocytosis, mastocytosis); (6) drug- and environment-induced (e.g., acroosteolysis, retinoid toxicity); (7) calcinosis cutis; and (8) osteoma cutis. "
8.	DNA (Deoxyribonucleic Acid)IBA 01/01/2018 - "By comparison to known mutations in genetic conditions of HO such as fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH), DNA sequencing analysis demonstrated the presence of a commonly occurring heterozygous synonymous polymorphism (c.690G>A; E230E) in the causative gene for FOP (ACVR1/ALK2). " 04/01/2003 - "Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia."
9.	Adenylyl Cyclases (Adenylyl Cyclase)IBA 03/01/2004 - "Research on fibrodysplasia ossificans progressiva also has led to the identification of the genetic cause of progressive osseous heteroplasia: inactivating mutations in the alpha subunit of the gene coding for the stimulatory G protein of adenylyl cyclase. " 04/01/2003 - "Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia."
10.	Aromatase InhibitorsIBA 08/01/2018 - "Two cases of treatment with aromatase inhibitors and development of miliary osteoma cutis-Is there an association?"

Therapies and Procedures

1.	Therapeutics 07/01/1992 - "Clinical features, etiology, classification and therapy of osteoma cutis are discussed." 07/01/1992 - "No efficacious therapy for the treatment of increasing and spreading cutaneous ossification is yet established. " 01/01/2020 - "We report a patient with biopsy-proven facial multiple miliary osteoma cutis responding to non-ablative Q-switched Nd:YAG laser therapy. " 01/01/2020 - "Multiple miliary osteoma cutis is therefore now amenable to non-surgical non-ablative therapy by using Q-switched Nd:YAG laser therapy reducing the risk of textural changes and hypopigmentation, especially in dark complexion and high-risk individuals. " 09/01/2001 - "It is suggested that local application of tretinoin cream should be considered in the therapy of multiple miliary osteoma cutis of the face, particularly when the lesions are small and superficial."
2.	Solid-State Lasers 01/01/2020 - "Multiple miliary osteoma cutis treatment response to Q-switched Nd:YAG laser: A case report." 11/01/1999 - "Erbium: YAG laser ablation of osteoma cutis: modifications of the approach." 02/01/1998 - "Erbium: YAG laser-assisted treatment of miliary osteoma cutis." 01/01/2020 - "We report a patient with biopsy-proven facial multiple miliary osteoma cutis responding to non-ablative Q-switched Nd:YAG laser therapy. " 01/01/2020 - "Multiple miliary osteoma cutis is therefore now amenable to non-surgical non-ablative therapy by using Q-switched Nd:YAG laser therapy reducing the risk of textural changes and hypopigmentation, especially in dark complexion and high-risk individuals. "
3.	Tattooing 03/26/2019 - "We present a case of a man who developed perforating osteoma cutis within a tattoo and propose that osteoma cutis be included among the list of adverse events that can occur in individuals who obtain a tattoo." 03/26/2019 - "Osteoma Cutis: An Adverse Event Following Tattoo Placement." 02/15/2021 - "These include autoimmune diseases (vitiligo), cutaneous disorders (Darier disease), dermal conditions (granuloma faciale), dermal depositions (amyloid, calcinosis cutis, cutaneous focal mucinosis, osteoma cutis, and tattoo), dermatitis, miscellaneous conditions (rhinophyma, sarcoidal reaction, and varicose veins), scars, surgical sites, systemic diseases (sarcoidosis), systemic infections (leischmaniasis, leprosy and lupus vulgaris), and ulcers. "
4.	Lasers (Laser) 10/01/2011 - "Multiple miliary osteoma cutis: treatment with CO(2) laser and hook." 03/01/1999 - "We report a patient with multiple miliary osteoma cutis, without a previous history of acne vulgaris, and the results of treatment of these lesions with curettage and the carbon dioxide continuous-wave laser. "
5.	Curettage 01/01/2001 - "Treatment of primary miliary osteoma cutis with incision, curettage, and primary closure." 03/01/1999 - "We report a patient with multiple miliary osteoma cutis, without a previous history of acne vulgaris, and the results of treatment of these lesions with curettage and the carbon dioxide continuous-wave laser. "