Adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism.
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.
Tanikawa
Takahisa
T
First Department of Internal Medicine, University of Occupational and Environmental Health, School of Medicine, Kitakyushu, Fukuoka, Japan.
Okada
Yosuke
Y
Azuma
Taeko
T
Fukushima
Ayumi
A
Kawahara
Chie
C
Tanaka
Yoshiya
Y
D030981:Acro-Osteolysis / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D017668:Age of Onset; D002352:Carrier Proteins; D012968:Etidronic Acid / Q000627:therapeutic use; D005260:Female; D005384:Finger Joint / Q000473:pathology; D005531:Foot Deformities, Acquired / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006227:Hand Deformities, Acquired / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D011506:Proteins / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D014033:Toe Joint / Q000473:pathology; D000099176:Noggin Protein
D002352:Carrier Proteins; D012968:Etidronic Acid; D011506:Proteins; D000099176:Noggin Protein