The pathogenesis of acroosteolysis
in SSc is not well understood, and presumed mechanisms include a reduction of vascular supply, compression from skin tightening, and impaired angiogenesis, among many others.
Haim-Munk syndrome It is a rare autosomal recessive genodermatosis characterized by palmoplantar hyperkeratosis, onychogryphosis, arachnodactyly and acroosteolysis
. Periodontitis may also be present.
These included (1) acroosteolysis
, (2) wormian bones, (3) platypasia, (4) premature loss of teeth, (5) micrognathia, (6) coarse face, (7) coarse hair, (8) midface flattening, (9) short stature (<5%), and (10) a positive family history .
Hajdu-Cheney syndrome (HCS) is a rare disorder which is characterized by developmental delay, craniofacial anomalies, congenital heart defects, hearing deficit, polycystic kidneys, and bone abnormalities, including progressive osteoporosis, acroosteolysis
, wormian bones, and abnormal bone fractures. Truncating mutations in Notch homolog protein 2 gene ( NOTCH2 ) are the principal cause of HCS.
Diffuse osteopenia, prominent vascular markings in skull, thin and large calvarium with shallow diploic space, multiple wormian bones, small mandible with infantile obtuse angle and short ascending rami, hypoplastic facial bones, open cranial fontanelles, thin short clavicles, dwarfism, abnormally gracile ribs involving the posterior segments of the upper ribs, slender long bones, kyphosis, coxa valga, and progressive acroosteolysis
of the terminal phalanges were the major roentgen findings previously reported.
 tissue ischemia 49/M Acroosteolysis
, improvement of Modietal.
These are easily remembered by the PORKCHOPS mnemonic (9): P-Pyknodysostosis, O-Osteogenesis Imperfecta, R-Rickets, K-Kinky Hair Syndrome, C-Cleidocranial Dysostosis, H-Hypothyroidism/Hypophosphatasia, O-Otopalatodigital Syndrome, P-Primary Acroosteolysis
, S-Syndrome of Downs.
Hajdu-Cheney Syndrome: a case of acroosteolysis
. Acta Reumatol Port 2007 Apr-Jun; 32(2):169-74.
It is characterized clinically by palmo-plantar keratoderma (PPK), aggressive early onset of periodontitis, onychogryphosis, arachnodactyly, acroosteolysis
and pes planus.
(11), (12) Our patient had neither erosive lesions nor acroosteolysis
in the affected bones and joints.
This may be complicated by secondary bacterial infection, gangrene, and acroosteolysis
, leading to articular deformities and dissolution of terminal phalanges (FIGURE 5).
, seen in up to 80% of scleroderma patients, occurs in both limited and diffuse cases, and is basically the absorption of the distal phalangeal tuft.