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Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene.
Am J Dermatopathol. 2008 Oct; 30(5):417-24.AJ

Abstract

Albright hereditary osteodystrophy is a rare syndrome, in which cutaneous and superficial soft tissue lesions traditionally include osteomas and calcifications. We report 4 patients from 2 families affected with Albright hereditary osteodystrophy and demonstrate that the spectrum of these cutaneous and soft tissue lesions is broader than is usually defined in the literature. In addition to osteomas in the dermis and subcutis, including so-called plaque-like osteoma, we identified the following lesions: calcifying aponeurotic fibroma-like lesion, calcinosis circumscripta-like lesion, and unusual nevi with osteoid and/or peculiar intranuclear pseudoinclusions. One osteoma and the calcifying aponeurotic fibroma-like lesion were analyzed by HUMARA and proved to be clonal. In a family, a novel mutation in the GNAS gene was also identified.

Authors+Show Affiliations

Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18806481

Citation

Kacerovska, Denisa, et al. "Cutaneous and Superficial Soft Tissue Lesions Associated With Albright Hereditary Osteodystrophy: Clinicopathological and Molecular Genetic Study of 4 Cases, Including a Novel Mutation of the GNAS Gene." The American Journal of Dermatopathology, vol. 30, no. 5, 2008, pp. 417-24.
Kacerovska D, Nemcova J, Pomahacova R, et al. Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene. Am J Dermatopathol. 2008;30(5):417-24.
Kacerovska, D., Nemcova, J., Pomahacova, R., Michal, M., & Kazakov, D. V. (2008). Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene. The American Journal of Dermatopathology, 30(5), 417-24. https://doi.org/10.1097/DAD.0b013e318180ec0e
Kacerovska D, et al. Cutaneous and Superficial Soft Tissue Lesions Associated With Albright Hereditary Osteodystrophy: Clinicopathological and Molecular Genetic Study of 4 Cases, Including a Novel Mutation of the GNAS Gene. Am J Dermatopathol. 2008;30(5):417-24. PubMed PMID: 18806481.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cutaneous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy: clinicopathological and molecular genetic study of 4 cases, including a novel mutation of the GNAS gene. AU - Kacerovska,Denisa, AU - Nemcova,Jana, AU - Pomahacova,Renata, AU - Michal,Michal, AU - Kazakov,Dmitry V, PY - 2008/9/23/pubmed PY - 2008/12/31/medline PY - 2008/9/23/entrez SP - 417 EP - 24 JF - The American Journal of dermatopathology JO - Am J Dermatopathol VL - 30 IS - 5 N2 - Albright hereditary osteodystrophy is a rare syndrome, in which cutaneous and superficial soft tissue lesions traditionally include osteomas and calcifications. We report 4 patients from 2 families affected with Albright hereditary osteodystrophy and demonstrate that the spectrum of these cutaneous and soft tissue lesions is broader than is usually defined in the literature. In addition to osteomas in the dermis and subcutis, including so-called plaque-like osteoma, we identified the following lesions: calcifying aponeurotic fibroma-like lesion, calcinosis circumscripta-like lesion, and unusual nevi with osteoid and/or peculiar intranuclear pseudoinclusions. One osteoma and the calcifying aponeurotic fibroma-like lesion were analyzed by HUMARA and proved to be clonal. In a family, a novel mutation in the GNAS gene was also identified. SN - 1533-0311 UR - https://www.unboundmedicine.com/medline/citation/18806481/Cutaneous_and_superficial_soft_tissue_lesions_associated_with_Albright_hereditary_osteodystrophy:_clinicopathological_and_molecular_genetic_study_of_4_cases_including_a_novel_mutation_of_the_GNAS_gene_ L2 - http://dx.doi.org/10.1097/DAD.0b013e318180ec0e DB - PRIME DP - Unbound Medicine ER -