-
European Journal of Rheumatology Apr 2019
PubMed: 30308144
DOI: 10.5152/eurjrheum.2018.18087 -
BMJ Case Reports Mar 2021Sarcoidosis is characterised by the formation of noncaseating granulomas classically affecting lungs, lymph nodes and skin. Osteoarticular involvement affects up to 15%...
Sarcoidosis is characterised by the formation of noncaseating granulomas classically affecting lungs, lymph nodes and skin. Osteoarticular involvement affects up to 15% of patients; however, acro-osteolysis, destruction involving distal phalanges of fingers and toes, associated with sarcoidosis, is extremely rare. A 44-year-old woman with a history of biopsy-proven sarcoidosis managed with prednisone and methotrexate presented with swelling and pain in the distal fingers of her right hand without skin manifestations. Radiographic imaging showed erosion of distal phalanges on second, third and fifth fingers and bone resorption in bilateral toes. A biopsy of the finger lesions showed noncaseating granulomas consistent with sarcoidosis. She was diagnosed with sarcoid acro-osteolysis and started on adalimumab with clinical and radiographic improvement. While most cases of osteoarticular sarcoidosis are asymptomatic and respond to standard immunosuppression, we present a case with progressive and refractory clinical course. This is the first reported case of sarcoid acro-osteolysis affecting the toes.
Topics: Acro-Osteolysis; Adult; Female; Fingers; Hand; Humans; Sarcoidosis; Toes
PubMed: 33653863
DOI: 10.1136/bcr-2020-240828 -
ACR Open Rheumatology Oct 2019
PubMed: 31777834
DOI: 10.1002/acr2.11072 -
Clinical and Experimental Rheumatology 2021Acro-osteolysis is often associated with systemic sclerosis (SSc). However, the severity of acro-osteolysis and its clinical association among SSc patients is limited....
OBJECTIVES
Acro-osteolysis is often associated with systemic sclerosis (SSc). However, the severity of acro-osteolysis and its clinical association among SSc patients is limited. Our aims were to assess the prevalence of acro-osteolysis and the clinical association with acro-osteolysis among SSc patients at early onset of the disease.
METHODS
A cross-sectional study of 120 newly diagnosed SSc patients with the onset of less than 4 years were evaluated on clinical characteristics and hand radiographs. Acro-osteolysis was graded on a 0-4-point scale based on the severity and the patients were subdivided into mild, moderate and severe.
RESULTS
Among all SSc patients enrolled, 62.5% were females, 56.1% dcSSc and the vast majority of them (84.1%) were positive for anti-topoisomerase I antibody (anti-topo I). The mean disease duration was 2.0±1.3 years. Acro-osteolysis was noted in 77 patients with a prevalence of 64.1% (95%CI 54.9-72.7), of which 16.7% were defined as severe acro-osteolysis. Logistic regression analysis revealed that acro-osteolysis was positively associated with anti-topo I (OR 13.96), hand deformity (OR 3.81) and dysphagia (OR 6.66), but negatively associated with oedematous skin (OR 0.05). Analysis stratified by severity of acro-osteolysis showed significant differences between subgroup in terms of the presence of digital gangrene (p=0.02), ischaemic ulcer (p=0.001), oedematous skin (p=0.001), and hand deformities (p=0.01).
CONCLUSIONS
Acro-osteolysis was common in SSc at the early onset of disease. While the presence of anti-topo I, hand deformity and esophageal involvement were strongly associated with acro-osteolysis, oedematous skin was the protective factor for acro-osteolysis.
Topics: Acro-Osteolysis; Cross-Sectional Studies; Female; Humans; Prevalence; Scleroderma, Diffuse; Scleroderma, Systemic
PubMed: 33427611
DOI: 10.55563/clinexprheumatol/vggbdq -
AACE Clinical Case Reports 2020To present a case of pyknodysostosis (PKND), a rare genetic cause of skeletal dysplasia that often goes undiagnosed even in patients with classic features.
OBJECTIVE
To present a case of pyknodysostosis (PKND), a rare genetic cause of skeletal dysplasia that often goes undiagnosed even in patients with classic features.
METHODS
We report a case of PKND that went undiagnosed over many years despite classic features. We performed physical examination, imaging studies, and genetic testing on the patient.
RESULTS
A 21-year-old female presented to endocrinology to establish care. On evaluation, she was noted to have disproportionate short stature and a past medical history notable for bilateral blindness due to optic atrophy secondary to bone enlargement and thickening of the optic nerve canal before age 7 years. She also had a history of foot fractures occurring with ambulation. Her family history was significant for consanguineous parents and relatives with similar clinical features. Physical examination revealed a short, 128-cm tall female with open anterior and mastoid fontanels, mild frontal bossing and micrognathia, evidence of double rows of teeth, and digits of varied length in both hands and feet. Plain radiographs demonstrated diffuse sclerosis and marked cortical thickening of the pelvis, femurs, metacarpals, proximal phalanges, and metatarsals as well as decreased phalangeal length and acro-osteolysis of the hands and feet. Dual energy X-ray absorptiometry demonstrated increased bone mineral density ( scores +2.5 lumbar spine, +3.7 femoral neck, +4.5 total hip). Genetic testing revealed a exon 5-homozygous mutation in the cathepsin K () gene consistent with PKND.
CONCLUSION
Patients with PKND come to medical attention for a variety of reasons but often go undiagnosed even when presenting with classic features due to the rarity of the condition and the overlap with other skeletal dysplasias.
PubMed: 32984533
DOI: 10.4158/ACCR-2020-0169 -
Journal of Indian Society of... Jul 2010Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset...
Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefèvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome.
PubMed: 21760678
DOI: 10.4103/0972-124X.75919 -
Pediatric Rheumatology Online Journal Jul 2021Acro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with various conditions and its presence... (Review)
Review
INTRODUCTION
Acro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with various conditions and its presence should prompt the clinician to search for the underlying etiology. The aim of this review is to discuss disorders with which acro-osteolysis is associated and their distinguishing features, with a focus on the pediatric population.
METHODS
A targeted literature review was performed using the term "acro-osteolysis" in combination with other key terms. The primary search results were supplemented using reference citations. Articles published prior to the year 2000 were included if they described additional associations not encountered in the more recent literature.
RESULTS
Genetic disorders (particularly primary hypertrophic osteoarthropathy and skeletal dysplasias) and rheumatic diseases (particularly psoriatic arthritis and systemic sclerosis) are the most frequently encountered conditions associated with acro-osteolysis in children. Hyperparathyroidism, neuropathy, local trauma and thermal injury, and spinal dysraphism should also be included in the differential diagnosis.
CONCLUSION
Although acro-osteolysis is uncommon, its presence should prompt the clinician to consider a differential diagnosis based on clinical and radiographic features.
Topics: Acro-Osteolysis; Child; Diagnosis, Differential; Humans; Pediatrics; Rheumatology
PubMed: 34261502
DOI: 10.1186/s12969-021-00596-0 -
European Journal of Case Reports in... 2020We describe a case of systemic sclerosis (SS) with acro-osteolysis associated with cutaneous mucinosis, usually characterized by mucin deposition in the skin. The main...
OBJECTIVES
We describe a case of systemic sclerosis (SS) with acro-osteolysis associated with cutaneous mucinosis, usually characterized by mucin deposition in the skin. The main differential diagnosis was multicentric reticulohistiocytosis due to the presentation of papulonodular skin lesions.
MATERIALS AND METHODS
A physical examination, imaging studies and laboratory tests were performed.
RESULTS
Distal bone resorption was evident on plain radiographs, and skin biopsy confirmed mucinosis. The SS diagnosis was based on the clinical features, high levels of antinucleolar antibodies and typical nailfold capillaroscopy findings.
CONCLUSION
To the best of our knowledge, this is the first description of cutaneous mucinosis accompanying SS with acro-osteolysis.
LEARNING POINTS
Cutaneous mucinosis is rarely associated with systemic sclerosis.Systemic sclerosis with cutaneous mucinosis may resemble multicentric reticulohistiocytosis.
PubMed: 32789122
DOI: 10.12890/2020_001568 -
Current Osteoporosis Reports Aug 2016Notch plays an important function in skeletal homeostasis, osteoblastogenesis, and osteoclastogenesis. Hajdu-Cheney syndrome (HCS) is a rare disease associated with... (Review)
Review
Notch plays an important function in skeletal homeostasis, osteoblastogenesis, and osteoclastogenesis. Hajdu-Cheney syndrome (HCS) is a rare disease associated with mutations in NOTCH2 leading to the translation of a truncated NOTCH2 stable protein. As a consequence, a gain-of-NOTCH2 function is manifested. HCS is inherited as an autosomal dominant disease although sporadic cases exist. HCS is characterized by craniofacial developmental defects, including platybasia and wormian bones, osteoporosis with fractures, and acro-osteolysis. Subjects may suffer severe neurological complications, and HCS presents with cardiovascular defects and polycystic kidneys. An experimental mouse model harboring a HCSNotch2 mutation exhibits osteopenia secondary to enhanced bone resorption suggesting this as a possible mechanism for the skeletal disease. If the same mechanisms were operational in humans, anti-resorptive therapy could correct the bone loss, but not necessarily the acro-osteolysis. In conclusion, HCS is a devastating disease associated with a gain-of-NOTCH2 function resulting in diverse clinical manifestations.
Topics: Acro-Osteolysis; Animals; Bone Resorption; Disease Models, Animal; Gain of Function Mutation; Hajdu-Cheney Syndrome; Humans; Mice; Nervous System Diseases; Osteoporosis; Osteoporotic Fractures; Platybasia; Polycystic Kidney Diseases; Receptor, Notch2
PubMed: 27241678
DOI: 10.1007/s11914-016-0311-6 -
Annals of the Rheumatic Diseases Mar 2005Psoriatic arthritis (PsA) has historically been considered a milder rheumatic disease not yielding significant clinical damage. However, recent studies have shown that... (Review)
Review
Psoriatic arthritis (PsA) has historically been considered a milder rheumatic disease not yielding significant clinical damage. However, recent studies have shown that PsA can be deforming and debilitating and that joint damage can be severe. Traditionally, joint damage has been recorded using plain radiographs. Characteristic radiographic features of PsA include joint erosions, joint space narrowing, bony proliferation including periarticular and shaft periostitis, osteolysis including "pencil in cup" deformity and acro-osteolysis, ankylosis, spur formation, and spondylitis. New imaging modalities, including ultrasound, bone scanning, and magnetic resonance imaging may help in both diagnosis and follow up of patients with PsA. These new imaging techniques will with validation help detect early changes in the peripheral joints, the periarticular tissues, and the spinal structures in patients with PsA.
Topics: Arthritis, Psoriatic; Humans; Magnetic Resonance Imaging; Tomography, X-Ray Computed; Ultrasonography
PubMed: 15708938
DOI: 10.1136/ard.2004.033928