Maffucci's syndrome with extensive gastrointestinal involvement.

A 10-year-old girl with cutaneous, oral and gastrointestinal vascular lesions was referred for consideration of laser treatment of her skin lesions. She was noted to have multiple venous malformations predominantly affecting the hands and feet, some of which had been present from birth. Her right hand was deformed by multiple venous malformations, and X-rays of this hand revealed enchondromata within metacarpal and phalangeal bones. She was known to have extensive involvement of her gastrointestinal tract by venous malformations, resulting in refractory iron-deficiency anaemia. In view of the multiple cutaneous and gastrointestinal vascular lesions, a diagnosis of blue rubber bleb naevus syndrome had been made many years earlier. However, after recognition of the characteristic enchondromata, this diagnosis has been revised to Maffucci's syndrome. In addition to her ongoing dermatological and paediatric follow up, she has now been referred to the orthopaedic surgeons for surveillance of her skeletal lesions.

[Maffucci syndrome associated with epidermoid carcinoma of the nasopharynx]. / Syndrome de Maffucci avec carcinome épidermoïde du cavum.

BACKGROUND: Maffucci's syndrome is a dysembryoplasia of the mesoderm, explaining the dual involvement of cartilage and vascular tissue. The risk of malignant degeneration or associated tumors is high in this uncommon disease. We report a case of Maffucci's syndrome associated with squamous cell carcinoma of the cavum. CASE REPORT: A 37-year-old man consulted for multiple angiomas and chondromas which had developed since childhood. The diagnosis of Maffucci's syndrome was obvious. Radiological exploration of the limbs confirmed chondromatosis and biopsy of the cavum performed because of the occurrence of epistaxis, revealed squamous cell carcinoma. DISCUSSION: Maffucci's angiochondromatosis is a rare, non-hereditary but sometimes congenital disease. Angiomas predominate on the hands and feet. Sarcomatous degeneration is the main complication of these chondromas. Angiomas rarely become malignant, but when they do are generally more aggressive than chondromas. The frequency of neoplasia in Maffucci's syndrome would suggest that there is a supplementary oncogenic factor. Several types of malignancy associated with Maffucci's syndrome have been reported, but to our knowledge there has been no publication concerning an association between Maffucci's syndrome and squamous cell carcinoma of the cavum.

Angiocondromatose de Maffucci / Maffucci's enchandromatosis

Relato de caso de um paciente com 38 anos de idade, portador de tumoraçäo angiomatosa sobreposta à deformaçäo óssea no quarto quirodáctilo esquerdo. O achado radiológico de encondromas confirmou o diagnóstico clínico de angiocondromatose de Maffucci

Escondromatosis multiple: presentación de un caso / Multiple enchodromatosis: report of a case

Se presenta el caso de una niña de dos años de edad que ingresa por presentar anemia, y se detecta en el examen físico deformidad de la extremidad distal del antebrazo izquierdo. Se realizaron estudios complementarios, entre ellos un survey óseo donde aparecieron lesiones radiotransparentes generalizadas, y los más afectados fueron los huesos de los miembros superiores y de la pelvis. En el estudio anatomopatológico de una de estas lesiones se observó gran proliferación celular, compatible, por su aspecto, con una tumoración cartilaginosa de naturaleza benigna; se plantea el diagnóstico de encondromatosis, entidad rara que se presenta en la niñez y que puede mejorar en la adolescencia, con la calcificación de las lesiones

Escondromatosis multiple: presentación de un caso / Multiple enchodromatosis: report of a case

Se presenta el caso de una niña de dos años de edad que ingresa por presentar anemia, y se detecta en el examen físico deformidad de la extremidad distal del antebrazo izquierdo. Se realizaron estudios complementarios, entre ellos un survey óseo donde aparecieron lesiones radiotransparentes generalizadas, y los más afectados fueron los huesos de los miembros superiores y de la pelvis. En el estudio anatomopatológico de una de estas lesiones se observó gran proliferación celular, compatible, por su aspecto, con una tumoración cartilaginosa de naturaleza benigna; se plantea el diagnóstico de encondromatosis, entidad rara que se presenta en la niñez y que puede mejorar en la adolescencia, con la calcificación de las lesiones

Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae.

The name opsismodysplasia is proposed for a new chondrodysplasia, which was studied in three patients. Clinically, the condition is recognized at birth on the basis of shortness, short hands, and facial abnormalities with a short nose and a depressed bridge of nose. The most characteristic radiographic signs are: very retarded bone maturation; marked shortness of the bones of the hands and of the feet with concave metaphyses; and thin, lamellar vertebral bodies. The growth cartilage studied in one case showed a wide hypertrophic area containing thick connective tissue septa, irregular provisional calcification, and vascular invasion. Type I collagen was detected in the hypertrophic area by immunohistochemical and microchemical tests. The transmission of opsismodysplasia is probably autosomal recessive.