X-Ray of hands showed, acro-osteolysis
with irregular distal fragments of the distal phalanges (Fig.
Radiological imaging showed hypertrophic osteoarthropathy and acro-osteolysis.
A common radiological finding affecting terminal phalanges of fingers called acro-osteolysis was observed in our case.
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome.
A patient with acro-osteolysis syndrome: Hajdu-Cheney.
Although both HMS and PLS share the common pathogenomic features of PPK and severe periodontitis6,7 and are allelic variants of cathepsin C gene mutations6,8, a number of additional findings are reported in HMS including onychogryphosis (curved nails), arachnodactyly (spider fingers/ elongated and slender shaped fingers and toes), acro-osteolysis (tappered pointed distal phalangeal ends due to osteolysis), pes planus (flat foot), occasionally hyperkeratotic psorisiform lesions with an erythematous background on the extensor surfaces of elbows and knees9,10,11,12 and rarely destructive arthritis of the wrists and shoulder joints.
Other features such as acro-osteolysis and pes planus were absent in proband but present in the elder sibling.
Extra oral examination revealed similar features as that of his younger brother in the form of palmo-plantar keratoderma (PPK) (Fig 9), keratosis of the dorsal surface of hands and feet (Fig 10) and erythematous keratotic psorisiform lesions on the extensor surfaces of both elbows and knees (Fig 11) (The patient started developing the above mentioned extra oral features at the age of 2-3 years), onychogry-phosis and transverse grooving of the nails (Fig 12), arachnodactyly (Fig 13) plus additional features of acro-osteolysis (Fig 14) and pes planus.
Films of the hands showed aplastic terminal phalanges in keeping with acro-osteolysis
Primary HOA or pachydermoperiostosis is a rare hereditary disorder characterized by digital clubbing, subperiosteal new bone formation, acro-osteolysis
, hypertrophy of soft tissues and glands, particularly in the face and scalp resulting in wrinkling of skin.
in 1991 proposed diagnostic criteria for PDP i) major criteria: digital clubbing, periostosis, and pachydermia and ii) minor criteria: seborrhea, hyperhidrosis, folliculitis, arthritis or arthralgia, gastritis or gastric ulcer, acro-osteolysis
, neurovegetative syndrome, hypertrophic gastropathy and cutis verticis gyrate.
4) Radiologically, acro-osteolysis
, periosteal changes of short, long and flat bones, and ossification of ligaments and interosseous membranes have been reported.