Symmetrical enchondromatosis of the hands and feet in two sisters.
We report two Portuguese sisters aged 9 and 12 years with symmetric well-circumscribed radiolucent cystic lesions on the long bone metaphysis of the hands and feet. The eldest also has soft tissue calcifications. They have no dysmorphic features and their growth is normal. Plasma values of parathyroid hormone (PTH), calcium, phosphorus, magnesium, and alkaline phosphatase are normal. Cerebral computed tomography (CT) scan shows no intracranial calcifications. A Raynaud phenomenon became evident during the last year in the eldest. The incisional biopsy of the left proximal metatarsial was performed through an area of typical radiographic appearance. The pathology specimen consisted of enchondroma tissue. The present cases are an extremely rare instance of this pathology, with symmetrical involvement of the hands and feet and a familial incidence.
Mota
C R
CR
Hospital de Crianças Maria Pia, Porto, Portugal.
Marques
L
L
Silva
E
E
Fonseca
M
M
Pinho
M
M
Torcato
M
M
Barbot
J
J
Medina
M
M
Maroteaux
P
P
D000293:Adolescent; D001859:Bone Neoplasms / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000000981:diagnostic imaging; D002648:Child; D003937:Diagnosis, Differential; D004687:Enchondromatosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D010375:Pedigree; D011859:Radiography