Hajdu-Cheney syndrome (HCS) is a rare skeletal dysplasia that is characterized by acroosteolysis of the distal phalanges, distinctive craniofacial and skull changes, dental abnormalities and generalized osteoporosis. The clinical and radiologic characteristics are variable and these characteristics progress with age. This syndrome shows autosomal dominant inheritance with sporadic cases. The genetic defects or molecular pathogenesis of HCS are still unknown. We experienced a case of Hajdu-Cheney syndrome in a 20-year-old man who had generalized osteoporosis with multiple non-traumatic spine compression fractures. He had acroosteolysis of the hands and feet, wormian bones in the skull, facial dysmorphism (mid-facial flattening, micrognathia and bushy eyebrows), a high arched palate, malocclusion and short dental alveolar processes. HCS was diagnosed based on the clinical and radiologic evidence. For the differential diagnosis, we excluded the other possible causes of the acroosteolysis and wormian bones, including hyperparathyroidism, osteogenesis imperfecta, hypophosphatemia and mandibuloacral dysplasia. The specific treatment of HCS is unknown, but case reports with bisphosphonate treatment have been reported.
Acro-Osteolysis ; Alveolar Process ; Diagnosis, Differential ; Foot ; Fractures, Compression ; Hajdu-Cheney Syndrome ; Hand ; Humans ; Hyperparathyroidism ; Hypophosphatemia ; Malocclusion ; Osteogenesis Imperfecta ; Osteoporosis ; Palate ; Skull ; Spine ; Wills ; Young Adult

Hajdu-Cheney syndrome is a rare, autosomal dominant skeletal dysplasia marked by acro-osteolysis of the distal phalanges and severe osteoporosis. Although there are more than 60 reports published to date, proper treatment and subsequent outcome have been scarce. Herein, we report a progress of anti-resorptive therapy with zoledronic acid, in a woman with Hajdu-Cheney syndrome. Results suggest that anti-resorptive therapy may be important in delaying the progress of osteoporosis and preventing fractures, but not necessarily acro-osteolysis itself.
Acro-Osteolysis/complications/*drug therapy ; Adult ; Bone Density Conservation Agents/*therapeutic use ; Diphosphonates/*therapeutic use ; Female ; Hajdu-Cheney Syndrome/complications/*drug therapy ; Humans ; Imidazoles/*therapeutic use ; Osteoporosis/complications/*drug therapy

In systemic sclerosis, digital ulcers and gangrene are somewhat common clinical characteristics of obliterative vasculopathy. These manifestations increase morbidities, such as pain, infections, and acroosteolysis. However, patient responses to the appropriate treatments are often inadequate. We treated a patient with systemic sclerosis who had a refractory digital ulcer and gangrene with bosentan, an endothelin receptor antagonist, and observed improvement. Here we systematically review this case.
Acro-Osteolysis ; Gangrene* ; Humans ; Receptors, Endothelin ; Scleroderma, Systemic* ; Ulcer*

PURPOSE: To evaluate the plain radiographic findings of bone and joint changes following electrical burn. MATERIALS AND METHODS: This study involved 19 patients with 27 bone and joints regions which had sufferedelectrical injury. The most common input and output sites were, respectively, the hand(7/14) and foot (6/10).Three other sites were involved. Four cases involved osteomyelitis, and in four, amputation was performed. Weobserved bone and joint changes, changes following osteomyelitis and changes in the amputation stump. We analyzedthe difference between input and output changes, and when this was interesting, the average time of onset wasassessed. RESULTS: In bone and joint changes following electrical burn, the most frequent radiographic findingwas joint contracture (n=16). Other findings included osteolysis (n=8), articular abnormalites (n=6), periostitis(n=5), fracture (n=5), acro-osteolysis (n=2), and heterotopic bone formation (n=2). In cases involvingosteomyelitis(n=4), aggravation of underlying bone changes was noted. CONCLUSION: In electrical burn, variouschanges were noted in bone and joints, and input injury was more severe than that of output.
Acro-Osteolysis ; Amputation ; Amputation Stumps ; Burns* ; Contracture ; Foot ; Humans ; Joints* ; Osteogenesis ; Osteolysis ; Osteomyelitis

Primary hypertrophic osteoarthropathy or pachydermoperiostosis is a rare hereditary disorder characterized by digital clubbing, pachydermia and periostosis. Its precise incidence and prevalence is still unknown due to the lack of controlled data. It occurs without any underlying causes and usually has a chronic course. Life expectancy may be of normal standards, but many patients develop multiple functional and cosmetic complications. So, it is important to diagnose this disease at an early stage and to treat the symptomat for the quality of life. We report a case of primary hypertrophic osteoarthropathy in a 68-year-old male with clinical features such as digital clubbing and pachydermia, radiographic findings of acroosteolysis and periosteal new bone formation.
Acro-Osteolysis ; Aged ; Humans ; Incidence ; Life Expectancy ; Male ; Osteoarthropathy, Primary Hypertrophic ; Quality of Life

Acro-Osteolysis ; etiology ; Child ; Follow-Up Studies ; Hereditary Sensory and Autonomic Neuropathies ; complications ; Humans ; Male

We report a case of a 41-year-old female with acrogeria. She was in good health except for the prominent atrophy over the hands and feet. On microscopic examination of a biopsy specimen from the atropl6c skin, elastic fibers were clumped and fragmented. Electronmicroscopy revealed amorphous and granulous pseudoelastin, which is presumed to be consistent with acrogeria. Our patient had acro-osteolysis and an extra chromosome in addition to the normal 23 pairs of chromosomes in one of 20 cells examined, which have been very rarely reported in the literature. Further studies are needed to find out whether this chromosomal aberration might contribute to the pathogenesis.
Acro-Osteolysis ; Adult ; Atrophy ; Biopsy ; Chromosome Aberrations ; Elastic Tissue ; Female ; Foot ; Hand ; Humans ; Skin

The Scleroderma is a chronic inflammatory disease of the connective tissue with involvement of the skin and other organs. It can be a manifestation of various disorders and occasionally acroosteolysis in the phalanges. Acroosteolysis is characterized by bone resorption or destruction in the phalanges, while the base is preserved. The pathogenesis of acroosteolysis in patients with scleroderma is a blood-flow disorder that is mainly associated with an abnormal accumulation of collagen in all tissues, microangiopathy and infections in the phalanges. The phalanges in patients with scleroderma are prone to continuous infections as a felon or skin ulcers due to atrophy of the subcutaneous tissue, dry and sclerotic skin, or a disorder of the immune system. We experienced a patient who had acroosteolysis with scleroderma of the phalanges, and this was associated with a felon. We report on this case along with a brief review of the literature.
Acro-Osteolysis ; Atrophy ; Bone Resorption ; Collagen ; Connective Tissue ; Humans ; Immune System ; Skin ; Skin Ulcer ; Subcutaneous Tissue

A nineteen year-old boy with progressive enlargement of the joints and distal extremities, clubbing, coarse facial features and hyperhidrosis was investigated. In physical examination, thickening of the scalp with furrowing (cutis verticis gyrata) and greasy thickening of skin (pachyderma) was prominent. His endocrine profile was normal. Radiological studies demonstrated bilateral symmetrical periosteal new bone formation with acroosteolysis and incidental microadenoma of pituitay gland. After extensive investigation to exclude systemic and endocrine causes, the patient was diagnosed as pachydermoperiostosis (PDP). PDP is a rare syndrome manifested clinically by finger clubbing, extremity enlargement, hypertrophic skin changes, and periosteal bone formation. The pathogenesis of the disorder has not been clarified though few endocrine abnormalities were seen. To aware of these clinical phenotype would help to differentiate PDP from acromegaly.
Acro-Osteolysis ; Acromegaly ; Extremities ; Fingers ; Humans ; Hyperhidrosis ; Joints ; Male* ; Osteoarthropathy, Primary Hypertrophic* ; Osteogenesis ; Phenotype ; Physical Examination ; Scalp ; Skin ; Young Adult*

The hereditary sensory neuropathy is a very rare disease characterized by prominent sensory loss without corresponding motor involvement, but may be associated with autonomic features. Currently, the disease is divided into five main types and most frequent are Type I and Type II. The type II hereditary sensory neuropathy is characterized by autosomal recessive inheritance, onset in utero or in infancy, loss of touch-pressure sense more than paintemperature sense, and almost total absence of myelinated nerve fibers. In this case, we describe a 23 years old female patient with acroosteolysis and heel ulcer who was diagnosed as hereditary sensory neuropathy type II.
Acro-Osteolysis* ; Female ; Heel ; Hereditary Sensory and Autonomic Neuropathies* ; Humans ; Nerve Fibers, Myelinated ; Rare Diseases ; Ulcer ; Wills ; Young Adult