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GNAS-associated disorders of cutaneous ossification: two different clinical presentations.
Bone 2010; 46(3):868-72BONE

Abstract

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.

Authors+Show Affiliations

Department of Paediatric Dermatology and Allergology, Wilhelmina's Children Hospital, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19900597

Citation

Schimmel, R J., et al. "GNAS-associated Disorders of Cutaneous Ossification: Two Different Clinical Presentations." Bone, vol. 46, no. 3, 2010, pp. 868-72.
Schimmel RJ, Pasmans SG, Xu M, et al. GNAS-associated disorders of cutaneous ossification: two different clinical presentations. Bone. 2010;46(3):868-72.
Schimmel, R. J., Pasmans, S. G., Xu, M., Stadhouders-Keet, S. A., Shore, E. M., Kaplan, F. S., & Wulffraat, N. M. (2010). GNAS-associated disorders of cutaneous ossification: two different clinical presentations. Bone, 46(3), pp. 868-72. doi:10.1016/j.bone.2009.11.001.
Schimmel RJ, et al. GNAS-associated Disorders of Cutaneous Ossification: Two Different Clinical Presentations. Bone. 2010;46(3):868-72. PubMed PMID: 19900597.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - GNAS-associated disorders of cutaneous ossification: two different clinical presentations. AU - Schimmel,R J, AU - Pasmans,S G M A, AU - Xu,M, AU - Stadhouders-Keet,S A E, AU - Shore,E M, AU - Kaplan,F S, AU - Wulffraat,N M, Y1 - 2009/11/10/ PY - 2009/08/11/received PY - 2009/11/02/revised PY - 2009/11/02/accepted PY - 2009/11/11/entrez PY - 2009/11/11/pubmed PY - 2010/9/21/medline SP - 868 EP - 72 JF - Bone JO - Bone VL - 46 IS - 3 N2 - 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. SN - 1873-2763 UR - https://www.unboundmedicine.com/medline/citation/19900597/GNAS_associated_disorders_of_cutaneous_ossification:_two_different_clinical_presentations_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S8756-3282(09)02013-4 DB - PRIME DP - Unbound Medicine ER -