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The Canadian Veterinary Journal = La... Apr 2006A 10-year-old, spayed female, obese golden retriever, presented for immune-mediated thrombocytopenia, was successfully managed with the administration of vincristine and...
A 10-year-old, spayed female, obese golden retriever, presented for immune-mediated thrombocytopenia, was successfully managed with the administration of vincristine and prednisone. However, 6 mo after discontinuing corticosteroid therapy because of suspected iatrogenic hyperglucocorticoidism, the patient was presented with multiple, firm, bilaterally symmetric, dermal masses composed histologically of differentiated cortical bone.
Topics: Adrenal Cortex Hormones; Animals; Bone Neoplasms; Dog Diseases; Dogs; Female; Neoplasms, Multiple Primary; Osteoma; Purpura, Thrombocytopenic, Idiopathic
PubMed: 16642875
DOI: No ID Found -
The Canadian Journal of Plastic Surgery... 2006Osteoma cutis is a rare disease in which there is formation of bony tissue in the skin that causes deformities. The etiology remains unknown and its treatment is...
Osteoma cutis is a rare disease in which there is formation of bony tissue in the skin that causes deformities. The etiology remains unknown and its treatment is controversial. A rare case of primary osteoma cutis in the face and scalp, which was not associated with any syndrome, is described. The patient was treated with surgery and topical retinoic acid. The retinoic acid treatment resulted in an improvement of the frontal area, and stabilized the disease over a two-year follow-up period. Surgical resection was a simple treatment with a quick recovery, minimal scarring and no local recurrence. The patient was followed for two years and presented a satisfactory result.The treatment of osteoma cutis is quite variable, and surgery is the most frequently reported treatment. However, a combination of clinical and surgical treatments seems to be an efficient way to manage these patients.
PubMed: 19554229
DOI: No ID Found -
Journal of Bone and Mineral Research :... Nov 2000Progressive osseous heteroplasia (POH) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and... (Review)
Review
Progressive osseous heteroplasia (POH) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and progressive heterotopic ossification of cutaneous, subcutaneous, and deep connective tissues during childhood. The disorder can be distinguished from fibrodysplasia ossificans progressiva (FOP) by the presence of cutaneous ossification, the absence of congenital malformations of the skeleton, the absence of inflammatory tumorlike swellings, the asymmetric mosaic distribution of lesions, the absence of predictable regional patterns of heterotopic ossification, and the predominance of intramembranous rather than endochondral ossification. POH can be distinguished from Albright hereditary osteodystrophy (AHO) by the progression of heterotopic ossification from skin and subcutaneous tissue into skeletal muscle, the presence of normal endocrine function, and the absence of a distinctive habitus associated with AHO. Although the genetic basis of POH is unknown, inactivating mutations of the GNAS1 gene are associated with AHO. The report in this issue of the JBMR of 2 patients with combined features of POH and AHO--one with classic AHO, severe POH-like features, and reduced levels of Gsalpha protein and one with mild AHO, severe POH-like features, reduced levels of Gsalpha protein, and a mutation in GNAS1--suggests that classic POH also could be caused by GNAS1 mutations. This possibility is further supported by the identification of a patient with atypical but severe platelike osteoma cutis (POC) and a mutation in GNAS1, indicating that inactivating mutations in GNAS1 may lead to severe progressive heterotopic ossification of skeletal muscle and deep connective tissue independently of AHO characteristics. These observations suggest that POH may lie at one end of a clinical spectrum of ossification disorders mediated by abnormalities in GNAS1 expression and impaired activation of adenylyl cyclase. Analysis of patients with classic POH (with no AHO features) is necessary to determine whether the molecular basis of POH is caused by inactivating mutations in the GNAS1 gene.
Topics: Fibrous Dysplasia, Polyostotic; GTP-Binding Protein alpha Subunits, Gs; Humans; Ossification, Heterotopic; Prognosis; Self-Help Groups; Skin Diseases
PubMed: 11092391
DOI: 10.1359/jbmr.2000.15.11.2084 -
Journal of Bone and Mineral Research :... Nov 2000We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic...
We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic ossification of dermis and subcutaneous fat that progressed to involve deep skeletal muscles of the face, scalp, and eyes. Although involvement of skeletal muscle is a prominent feature of POH, heterotopic ossification has not been observed in the head, face, or extraocular muscles. The cutaneous ossification in this patient was suggestive of Albright hereditary osteodystrophy (AHO); however, none of the other characteristic features of AHO were expressed. Inactivating mutations of the GNAS1 gene, which encodes the alpha-subunit of the stimulatory G protein of adenylyl cyclase, is the cause of AHO. Mutational analysis of GNAS1 using genomic DNA of peripheral blood and of lesional and nonlesional tissue from our patient revealed a heterozygous 4-base pair (bp) deletion in exon 7, identical to mutations that have been found in some AHO patients. This 4-bp deletion in GNAS1 predicts a protein reading frameshift leading to 13 incorrect amino acids followed by a premature stop codon. To investigate pathways of osteogenesis by which GNAS1 may mediate its effects, we examined the expression of the obligate osteogenic transcription factor Cbfa1/RUNX2 in lesional and uninvolved dermal fibroblasts from our patient and discovered expression of bone-specific Cbfa1 messenger RNA (mRNA) in both cell types. These findings document severe heterotopic ossification in the absence of AHO features caused by an inactivating GNAS1 mutation and establish the GNAS1 gene as the leading candidate gene for POH.
Topics: Amino Acid Sequence; Base Sequence; Bone and Bones; Cell Line; Child; Core Binding Factor Alpha 1 Subunit; Exons; Female; Fibroblasts; Fibrous Dysplasia, Polyostotic; Forehead; GTP-Binding Protein alpha Subunits, Gs; Gene Expression Regulation; Humans; Molecular Sequence Data; Mutation; Neoplasm Proteins; Organ Specificity; Ossification, Heterotopic; RNA, Messenger; Skin; Transcription Factors; Transcription, Genetic
PubMed: 11092389
DOI: 10.1359/jbmr.2000.15.11.2063 -
The Western Journal of Medicine Oct 1999
Topics: Aged; Evidence-Based Medicine; Female; Humans; Ossification, Heterotopic; Skin Diseases
PubMed: 10578679
DOI: No ID Found -
Journal of Bone and Mineral Research :... Jun 1997
Topics: Female; Humans; Infant; Metacarpus; Osteoma; Phenotype; Pseudopseudohypoparathyroidism; Radiography; Skin Neoplasms
PubMed: 9169361
DOI: 10.1359/jbmr.1997.12.6.995 -
Medical Journal, Armed Forces India Apr 1994A case of osteoma cutis in a woman of 48 years is reported. The primary cutaneous ossification has a unique congenital and noninvasive nature. The histological features...
A case of osteoma cutis in a woman of 48 years is reported. The primary cutaneous ossification has a unique congenital and noninvasive nature. The histological features of the lesion are illustrated.
PubMed: 28769194
DOI: 10.1016/S0377-1237(17)31025-0 -
Journal of the Royal Society of Medicine Feb 1994
Topics: Acne Vulgaris; Facial Neoplasms; Female; Humans; Middle Aged; Osteoma
PubMed: 8196025
DOI: No ID Found -
Journal of the American Academy of... Sep 1991Skin disorders in which a radiograph may detect associated bony changes or abnormalities of calcification are discussed. They are grouped into eight categories: (1)... (Review)
Review
Skin disorders in which a radiograph may detect associated bony changes or abnormalities of calcification are discussed. 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. The first part of this review, published in the August 1991 issue of this JOURNAL, dealt with the first two categories; part II discusses categories 3 through 8.
Topics: Bone Diseases; Bone and Bones; Humans; Radiography; Skin Diseases
PubMed: 1918486
DOI: 10.1016/0190-9622(91)70226-r -
Journal of the American Academy of... Aug 1991Skin disorders in which a radiograph may detect associated bony changes or abnormalities of calcification are discussed. They are grouped into eight categories: (1)... (Review)
Review
Skin disorders in which a radiograph may detect associated bony changes or abnormalities of calcification are discussed. 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. Part I of our review discusses the first two categories.
Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Bone and Bones; Calcinosis; Genetic Diseases, Inborn; Humans; Radiography; Skin; Skin Abnormalities; Skin Diseases
PubMed: 1918456
DOI: 10.1016/0190-9622(91)70185-5