Albright's syndrome with hypophosphatemic rickets and hyperthyroidism: a case report

Hahn, Soo Bong; Lee, Seok Beom; Kim, Duk Hi

doi:10.3349/ymj.1991.32.2.179

Cited by 11 publications

(4 citation statements)

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“…In McCune–Albright syndrome (MAS), the characteristic features include a combination of skin lesions (café‐au‐lait spots), polyostotic fibrous dysplasia, and endocrine abnormalities—variably including precocious puberty, thyrotoxicosis, pituitary gigantism, and Cushing syndrome [OMIM 174800] and sometimes hypophosphatemic rickets [Hahn et al, 1991; McArthur et al, 1979; OMIM 174800]. Furthermore, as we confirmed for one of our patients, elevated circulating levels of FGF‐23 can occur in patients with MAS [Riminucci et al, 2003].…”

Section: Discussionmentioning

confidence: 99%

Radiation grafting of acrylic acid/N‐vinyl pyrrolidone binary mixture onto poly(ethylene terephthalate) fabric and growth of human mesenchymal stem cell

Gupta

Grover

Mohanty

et al. 2009

J of Applied Polymer Sci

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Radiation grafting of acrylic acid (AA)/Nvinyl pyrrolidone (NVP) binary mixture onto poly(ethylene terephthalate) (PET) knittings was investigated by preirradiation technique. The influence of the grafting conditions, such as monomer composition, reaction temperature, and the effect of storage time with temperature after irradiation on the degree of grafting was determined. ATR-FTIR spectroscopy analysis of the grafted knittings confirmed the existence of amide group of NVP in the knittings. The concentration of peroxides and effect of storage time on peroxide concentration were also determined by 2,2-Diphenyl-1-picrylhydrazyl at different temperatures. There was an increase in surface roughness of grafted PET in comparison to virgin PET as determined by atomic force microscopy and scanning electron microscopy. The grafted knittings were subsequently immobilized with collagen Type I which was further apt for the study of growth and morphology of human mesenchymal stem cell (hMSC). The immobilization of collagen on PET knittings has provided an excellent surface for the growth of hMSCs.

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Section: Discussionmentioning

confidence: 99%

Radiation grafting of acrylic acid/N‐vinyl pyrrolidone binary mixture onto poly(ethylene terephthalate) fabric and growth of human mesenchymal stem cell

Gupta

Grover

Mohanty

et al. 2009

J of Applied Polymer Sci

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“…In McCune-Albright syndrome (MAS), the characteristic features include a combination of skin lesions (café-au-lait spots), polyostotic fibrous dysplasia, and endocrine abnormalities-variably including precocious puberty, thyrotoxicosis, pituitary gigantism, and Cushing syndrome [OMIM 174800] and sometimes hypophosphatemic rickets [Hahn et al, 1991;McArthur et al, 1979;OMIM 174800]. Furthermore, as we confirmed for one of our patients, elevated circulating levels of FGF-23 can occur in patients with MAS [Riminucci et al, 2003].…”

Section: Discussionmentioning

confidence: 99%

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

Heike

Cunningham

Steiner

et al. 2005

American J of Med Genetics Pt A

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Epidermal nevus syndrome (ENS) is a rare, sporadic, congenital disorder of unknown etiology featuring a complex and highly variable phenotype that can include focal or generalized skeletal disease. We describe a young man with ENS manifesting right-sided linear skin lesions, generalized weakness, diffuse osteopenia associated with hypophosphatemic rickets, and distinctive focal bone lesions ipsilateral to the skin findings. Review of the literature concerning ENS-associated skeletal disease suggested such focal bone defects are fibrous dysplasia, but our patient did not have the typical radiographic or histopathologic findings of fibrous dysplasia. Nevertheless, his circulating fibroblast growth factor 23 (FGF-23) level was elevated, likely functioning as a "phosphatonin," yet no activating mutations in GNAS previously reported in fibrous dysplasia or McCune-Albright syndrome were detected in his leukocytes or affected skin. We postulate that the focal skeletal disease, although different than fibrous dysplasia, may be a source of FGF-23 in ENS.

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“…A base fisiopatológica permanece desconhecida, contudo duas hipóteses são descritas. A primeira relata a possí-vel existência de um fator fosfatúrico circulante produzido pelo tecido osteóide fibrótico e a segunda sugere a existência de um defeito intrínseco de reabsorção tubular renal de fosfato (11,12,38,39).…”

Section: Discussionunclassified

“…Outras manifestações de hiperfunção endócrina podem também estar presentes como: hipersomatotropismo (3,4), hiperprolactinemia (5,6), hipertiroidismo (3,7,8), hiperparatiroidismo (8) e hipercortisolismo (9,10). No sistema esquelético, além da DFP que caracteriza a síndrome, foram descritos casos associados de raquitismo hipofosfatêmico (11,12). As lesões displásicas podem, ainda que raramente, evoluir para osteossarcoma (13).…”

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Evolução da displasia fibrosa óssea na síndrome de McCune Albright

Farhat

Silva

Lazaretti‐Castro

et al. 1999

Arq Bras Endocrinol Metab

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RESUMOA tríade clássica da Síndrome de McCune Albright (SMA) -displasia fibrosa poliostótica (DFP), máculas cutâneas "café au lait" e hiperfunção autônoma de uma ou mais glândulas endócrinas -envolve mutações ativadoras do gene GNAS1, codificador da proteína Ga s e conseqüente aumento da produção do sinalizador intracelular AMPc em diferentes tecidos. Embora a pseudo-puberdade precoce (PPP) seja a manifestação clínica mais freqüente, são as alterações ósseas que conferem a maior morbidade à síndrome. Apresentamos o seguimento clínico endocrinológico e a evolução da doença óssea em 4 pacientes portadores da SMA, das quais 3 delas estão sendo tratadas com bisfosfonato (Pamidronato, 2mg/kg). Três das 4 pacientes apresentaram pseudo-puberdade precoce e duas delas desenvolveram hipertiroidismo. A variação do nível de fosfatase alcalina (FA) foi o indicador bioquímico da doença óssea, cujas complicações foram dor e fratura além de obstrução do canal lacrimal em uma e amaurose unilateral em outra como conseqüência das deformidades crânio-faciais. A infusão de pamidronato endovenoso produziu melhora das dores ósseas e reduziu (37% -54%) os níveis de FA em todas as pacientes. Entretanto, a melhora da qualidade do osso com o uso do bisfosfonato ainda é incerta e para a qual necessitamos de estudos randomizados e com longo prazo de observação. ABSTRACTMcCune Albright syndrome is a rare disorder characterized by polyostotic fibrous dysplasia, café-au-lait spots and some endocrine hyperfunction, mostly precocious puberty. It is caused by activating mutations of the GNAS1 gene that codifies for the Ga s protein, leading to overproduction of cAMP messenger at different tissues. Although pseudo-precocious puberty is the most frequent disfunction, the skeletal lesions are responsible for the highest morbidities such as bone pain, fractures and deformations. Clinical follow up focusing the bone disease is reported in four patients, three of them been treated with intravenous bisphosphonate (Pamidronate, 2mg/kg). Precocious puberty occurred in three and hyperthyroidism developed in two of the patients. Alkaline phosphatase (AP) levels were used as biochemical markers of the osteolytic lesions, clinically presented by local pain, fracture and bone deformities. In addition, lachrymal obstruction in one patient and unilateral blindness in another appear to be due to deformed skull and facial bones. Intravenous infusion of Pamidronate has been improving bone pain and decreased (37% -54%) basal AP levels. However, a long-term randomized follow-up study determining improvement in bone quality still needs to be completed. (Arq Bras Endocrinol Metab 1999;43/5: [351][352][353][354][355][356][357][358][359]

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Albright's syndrome with hypophosphatemic rickets and hyperthyroidism: a case report

Cited by 11 publications

References 0 publications

Radiation grafting of acrylic acid/N‐vinyl pyrrolidone binary mixture onto poly(ethylene terephthalate) fabric and growth of human mesenchymal stem cell

Radiation grafting of acrylic acid/N‐vinyl pyrrolidone binary mixture onto poly(ethylene terephthalate) fabric and growth of human mesenchymal stem cell

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

Evolução da displasia fibrosa óssea na síndrome de McCune Albright

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