Progressive Osseous Heteroplasia. A Case Report and Review of the Literature

Aynacı, Osman; Aynaci, Fatma Müjgan; Çobanoğlu, Ümi̇t; Alpay, Köksal

doi:10.1097/01202412-200210000-00013

Cited by 8 publications

(11 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The GNAS gene encodes a complex array of transcripts including the alpha subunit of the G-stimulatory protein (Gs-α) of adenylyl cyclase [4,5]. GNAS mutations in POH can be familial, but most cases are sporadic as in patient-1 [4–7]. …”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

GNAS-associated disorders of cutaneous ossification: Two different clinical presentations

Schimmel

Pasmans

et al. 2010

Bone

View full text Add to dashboard Cite

Progressive osseous heteroplasia (POH) is a rare genetic disorder characterized by dermal ossification during infancy and progressive ossification into deep connective tissue during childhood. POH is at the severe end of a spectrum of GNAS-associated ossification disorders that include osteoma cutis and Albright Hereditary Osteodystrophy (AHO). Here we describe two girls who have different clinical presentations that reflect the variable expression of GNAS-associated disorders of cutaneous ossification. Each girl had a novel heterozygous inactivating mutation in the GNAS gene. One girl had POH limited to the left arm with severe contractures and growth retardation resulting from progressive heterotopic ossification in the deep connective tissues. The other girl had AHO with widespread, superficial heterotopic ossification but with little functional impairment. While there is presently no treatment or prevention for GNAS-associated ossification disorders, early diagnosis is important for genetic counselling and for prevention of iatrogenic harm.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Surgical resection of the lesions can be followed with recurrences or complications, especially when the ossification is progressive and deep [2,5,6,7]. Bisphosphonate treatment has been successful in children with osteoporosis, various skeletal dysplasias and heterotopic ossification [10,11,12].…”

Section: Discussionmentioning

confidence: 99%

GNAS-associated disorders of cutaneous ossification: Two different clinical presentations

Schimmel

Pasmans

et al. 2010

Bone

View full text Add to dashboard Cite

show abstract

“…Joint ankylosis is a major complication that can result in severe growth retardation, limb length discrepancies and limitation of movement. 1,12,14 Other complications include skin ulceration and discharge of bony material, recurrent infections and pain. Mild or asymptomatic cases have also been reported.…”

Section: Reportmentioning

confidence: 99%

Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene

et al. 2004

View full text Add to dashboard Cite

Progressive osseous heteroplasia (OMIM 166350) is a rare autosomal dominant condition that presents in childhood as dermal ossification and may progress deeper to involve subcutaneous fat and connective tissue. Recently, paternally inherited inactivating mutations in the GNAS1 gene on chromosome 20q13 have been implicated in the pathogenesis, although sporadic cases have also been reported. We report a 9-year-old British Chinese girl with progressive osseous heteroplasia resulting from a de novo missense mutation (W281R) in the GNAS1 gene. She is of small stature (0.4th centile) and started to develop skin lesions at the age of 9 months. These have been confirmed histologically as osteoma cutis. She is of normal intelligence and development and has no dysmorphic features. The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800). With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation.

show abstract

“…72 Complications include skin ulceration and discharge of bony material, recurrent infections, joint ankylosis, and growth retardation.…”

Section: Progressive Osseous Heteroplasiamentioning

confidence: 99%

Cutaneous Deposits

Molina-Ruiz

Cerroni

Kutzner

et al. 2014

The American Journal of Dermatopathology

View full text Add to dashboard Cite

: The cutaneous deposition disorders are a group of unrelated conditions characterized by the accumulation of either endogenous or exogenous substances within the skin. These cutaneous deposits are substances that are not normal constituents of the skin and are laid down usually in the dermis, but also in the subcutis, in a variety of different circumstances. There are 5 broad categories of cutaneous deposits. The first group includes calcium salts, bone, and cartilage. The second category includes the hyaline deposits that may be seen in the dermis in several metabolic disorders, such as amyloidosis, gout, porphyria, and lipoid proteinosis. The third category includes various pigments, heavy metals, and complex drug pigments. The fourth category, cutaneous implants, includes substances that are inserted into the skin for cosmetic purposes. The fifth category includes miscellaneous substances, such as oxalate crystals and fiberglass. In this article, the authors review the clinicopathologic characteristics of cutaneous deposition diseases, classify the different types of cutaneous deposits, and identify all the histopathologic features that may assist in diagnosing the origin of a cutaneous deposit.

show abstract

Progressive Osseous Heteroplasia. A Case Report and Review of the Literature

Cited by 8 publications

References 13 publications

GNAS-associated disorders of cutaneous ossification: Two different clinical presentations

GNAS-associated disorders of cutaneous ossification: Two different clinical presentations

Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene

Cutaneous Deposits

Contact Info

Product

Resources

About