Humans ; Hajdu-Cheney Syndrome/genetics*

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*

Pycnodysostosis is an autosomal recessive disorder characterized by osteosclerosis, small stature, acro-osteolysis of the distal phalanges, loss of the mandibular angle, separated cranial sutures with open fontanels, and frequent fractures. One identified cause of the disease is reduced activity of the cysteine protease cathepsin K. A 48-year-old woman with a history of frequent fractures presented with a severe gait disturbance. Radiography, computed tomography, magnetic resonance imaging, and gene analysis were performed. Physical examination revealed open fontanels, and radiographs showed increased bone density. DNA sequence analysis revealed a deletion mutation of the cathepsin K gene. We diagnosed pycnodysostosis based on these findings. The magnetic resonance and computed tomography images demonstrated multilevel spinal canal stenosis due to ossification of the yellow ligament. We performed a laminectomy, and the patient's neurological signs and symptoms improved. To our knowledge, this is the first case of pycnodysostosis with ossification of the yellow ligament.
Acro-Osteolysis ; Bone Density ; Cathepsin K ; Constriction, Pathologic* ; Cranial Sutures ; Cysteine Proteases ; Female ; Gait ; Humans ; Laminectomy ; Ligaments* ; Magnetic Resonance Imaging ; Middle Aged ; Osteosclerosis ; Physical Examination ; Pycnodysostosis* ; Radiography ; Sequence Analysis, DNA ; Sequence Deletion ; Spinal Canal*

A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.
Adult ; Bone Density ; Craniofacial Abnormalities/complications/radiography ; Diabetes Mellitus, Type 1/*complications/diagnosis ; Diabetic Ketoacidosis/complications/genetics ; Glycosuria ; Hajdu-Cheney Syndrome/*complications/diagnosis/radiography ; Humans ; Ketone Bodies/urine ; Male ; Mutation ; Osteoporosis/complications/radiography ; Receptor, Notch2/*genetics ; Young Adult

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

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.
Acro-Osteolysis ; Adolescent ; Animals ; Beak ; Craniofacial Abnormalities ; Dysostoses ; Extremities ; Fingers ; Frontal Sinus ; Humans ; Hyperostosis ; Nails, Malformed ; Nose ; Paranasal Sinuses ; Physical Examination ; Prognathism ; Pycnodysostosis ; Retention (Psychology) ; Sclerosis ; Skin ; Sutures ; Tooth, Deciduous ; Tooth, Supernumerary

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

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

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

Acro-osteolysis is characterized by bone resorption in the fingers and toes and can occur in several diseases. Occupational exposure to polyvinyl chloride polymers, thermal injury, and repetitive mechanical injury can also cause acro-osteolysis. The pathophysiology of the disease is unknown, but a unifying theme of vascular and mechanical injury is presented. Signs include Raynaud's phenomenon, bone loss in the hand and cold sensitivity. We report the case of a 67-year-old woman who presented with acro-osteolysis after being burned repeatedly.
Acro-Osteolysis ; Aged ; Bone Resorption ; Burns ; Cold Temperature ; Female ; Fingers ; Hand ; Humans ; Occupational Exposure ; Peripheral Nervous System Diseases ; Polymers ; Polyvinyl Chloride ; Toes