Multi-analytic study of a probable case of fibrous dysplasia (FD) from certosa monumental cemetery (Bologna, Italy).

OBJECTIVE: To evaluate, via a multidisciplinary approach, a distinctive paleopathological condition believed to be fibrous dysplasia, found on a 19th/20th century skeleton from Certosa Monumental Cemetery, Bologna, Italy. MATERIALS: A skeletonized cranium and mandible recovered from an ossuary in 2014. METHODS: Pathological alterations were analysed by radiological examination, dental macrowear, histopathological and genetic analyses. RESULT: The skeleton is believed to be an adult male. Differential diagnoses include Paget's disease, McCune-Albright syndrome, osteochondroma and osteosarcoma. The radiographic findings, along with the solitary nature of the lesions, are strong evidence for the diagnosis of fibrous dysplasia (FD). Genetic analysis further revealed a frequency of ˜1% of mutant alleles with the R201C substitution, one of the post-zygotic activating mutation frequently associated with FD. CONCLUSIONS: The multi-analytical method employed suggests a diagnosis of monostotic form of FD. The diagnostic design incorporates multiple lines of evidence, including macroscopic, histopathological, and genetic analyses. SIGNIFICANCE: Through the use of a multi-analytic approach, robust diagnoses can be offered. This case serves as one of the oldest examples of FD from an historical context. The genetic mutation detected, associated with FD, has not been previously reported in historical/ancient samples.

Biographical sketch: Fuller Albright, MD 1900-1969.

This biographical sketch on Fuller Albright corresponds to the historic text, The Classic: The Metabolic Effects of Steroid Hormones in Osteoporosis, available at DOI 10.1007/s11999-011-1832-z .

Síndrome de McCune Albright (SMA) - 2001. Uma janela no tempo, um retrato da evoluçäo do conhecimento médico / McCune Albright's syndrome (MAS) - 2001 the window in time, the feature of medical knowledge evolution

A síndrome de McCune-Albright (SMA) é uma doença genética esporádica determinada por mutaçäo esporádica pós-zigótica e caracterizada por hiperfunçäo glandular, displasia fibrosa poliostótica e hiperpigmentaçäo cutânea café-com-leite. É causada por mutaçäo do gene que codifica a subunidade a da proteína G estimuladora, locus gênico 20q13.2, especificamente nos codons 201 ou 227. A mutaçäo altera a capacidade GTPase intrínseca da subunidade a, determinando a ativaçäo constitutiva persistente do sistema adenilil-ciclase com consequente acúmulo do AMPc intracelular. O quadro clínico é variável, desde a apresentaçäo isolada de cada componente do síndrome, até um quadro sistêmico e grave onde várias glândulas endócrinas e tecidos näo endócrinos säo afetados. O comprometimento hepático e/ou cardiovascular confere maior gravidade, aumentando o risco de episódios fatais. As anormalidades decorrem da hiperativaçäo primária dos tecidos afetados e devem ser tratadas com fármacos que atuem primariamente no tecido alvo, como o cetoconazol para as gônadas e adrenais, os análogos da somatostatina na hiperfunçäo hipofìsária e os bisfosfonatos na displasia óssea. O emprego de agentes que atuem no sistema adenilil-ciclase poderäo futuramente propiciar um controle mais adequado e específico das anormalidades presentes na SMA.

CT of the "Tegernsee Giant": juvenile gigantism and polyostotic fibrous dysplasia.

We report the radiological findings in the unusual case of the Bavarian "Tegernsee Giant." With conventional radiography, CT, and histologic examination, we succeeded in diagnosing two disorders: The Tegernsee Giant suffered from (a) juvenile gigantism caused by a growth hormone-secreting tumor of the pituitary gland and (b) a polyostotic form of fibrous dysplasia of the skull and multiple bones particularly on the left side of the body.