PubMed · 13801519
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
H BLOCH-MICHEL, J BRIZARD. 1960-07-01. [Acroosteolysis].. https://pubmed.ncbi.nlm.nih.gov/13801519/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
The Bureau-Barrière syndrome is described as an acral ulcer with mutilating osteolysis of the limbs that is nonfamiliar, non-sex-specific, induced by many factors, and elicited by sensory-trophic polyneuropathy. Often a bilateral location at the lower limb of male alcoholics has been described. We report about a 76-year-old diabetic women with unilateral mutilating acroosteolysis and ulceration of one finger and discuss the relevant clinical aspects of the Bureau-Barrière syndrome.
Juvenile scleroderma, a relatively rare condition, may be confused with a number of progeroid syndromes like Hutchinson-Gilford syndrome, Werner syndrome and Rothmund-Thomson syndrome. In this case report, we describe a 9-year-old boy who presented with sclerodactyly, acroosteolysis and scleroderma-like involvement of the skin over hands and feet, which suggested a diagnosis of juvenile scleroderma initially. However, absence of Raynaud's phenomenon, sparing of the skin other than hands and feet and negative serological studies did not support this diagnosis. On the basis of additional findings (micrognathia, dental malformation, a 'beaked nose', open cranial sutures and sparse hair), the patient was diagnosed as mandibuloacral dysplasia, a rare autosomal recessive disease. This case demonstrates that mandibuloacral dysplasia should be considered in the differential diagnosis of juvenile scleroderma in the presence of atypical features such as negative serological studies, absence of Raynaud's phenomenon, sparse hair and micrognathia.
We experienced a 57-year-old female with adult-onset non-congenital idiopathic acro-osteolysis combined with proximal symphalangism. At the age of 36, she developed severe pain and swelling of the toe base of both feet and underwent Clayton surgery. However, the size of her toes diminished progressively over the 5-year period after surgery. At the age of 41, she suffered pain and swelling of the proximal interphalangeal (PIP) joints of fingers of both hands. These PIP joints became rigid and inflexible. Subsequently, she noticed shortening of the little finger of both hands, followed later by shortening of the index, middle, and ring fingers. At the age of 57, the thumbs began to shorten. Laboratory and endocrinological examinations were not abnormal. Finally, we diagnosed her with acro-osteolysis combined with proximal symphalangism by radiological examination. In this case, previously unreported mutations of the Noggin gene were identified. This is the first case report of adult-onset, non-congenital idiopathic acro-osteolysis combined with proximal symphalangism.