Acro-osteolysis Of Distal Phalanges Research Articles

When parathyroid adenoma meets osteopathia striata, rarest amalgam of bony dysplasia with brown tumors: a case report

BackgroundOsteopathia is a benign entity characterized by linear densities along the diaphysis and metaphysis of the longitudinal axes of the long bone. Parathyroid adenoma is a non-malignant parathyroid gland tumor characterized by increased parathormone levels, causing defecting calcium levels leading to multiple brown tumors, renal calculi, bone pains, polyuria, and arrhythmias in the patient. The coexistence of parathyroid adenoma with osteopathia striata has not been reported yet in the literature. To our knowledge, this is the first case of its kind.Case presentationAn 18-year-old male patient presented to our institution with the complaint of genu valgum deformity in his right knee and was admitted for corrective surgery. While undergoing a preoperative evaluation, we came across multiple focal, lytic lesions in his radiographs and an atypical finding of osteopathia striata in his long bones. Further examination led us to the findings of cranial sclerosis and acro-osteolysis of distal phalanges. The tumor, whose catalyst was unclear, directed us toward an ultrasonographic analysis of the patient’s neck, leading us to a solitary parathyroid adenoma.ConclusionsRadiological examinations played a very crucial role in the diagnosis of this condition. Though the reason behind osteopathia and the parathyroid lesion in this patient remains unknown, this presentation remains an exceptional and never-reported case of parathyroid adenoma and associated brown tumors in a patient with osteopathia striata.

Pycnodysostosis with recurrent long bone fractures

<p class="abstract">Pycnodysostosis is a rare autosomal recessive sclerosing bone disorder characterized by generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle and acroosteolysis of distal phalanges and multiple long bone fractures. We report this case of a 30-year-old female with repeated multiple long bone fractures and other clinico-radiological pathognomonic features of pycnodysostosis.</p>

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge.

Short stature Revealing a Pycnodysostosis: A Case Report.

Introduction:Pycnodysostosis is a rare genetic disease characterized by osteosclerosis and bone fragility. The clinical aspects are varied including short stature, acro-osteolysis of distal phalanges, and dysplasia of the clavicles. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, a beaked nose, obtuse mandibular angle, and both maxilla and mandible are hypoplastic. Dental abnormalities are common. We report a case with the typical clinical and radiological characteristics of the Pycnodysostosis associated with a conductive hearing loss, an association rarely reported.Case Presentation:A 12-year-female was admitted in our institute for short stature with a dysmorphic facies for evaluation. The patient reported a history of multiple fractures of the long bones after a trivial fall. On physical examination, she had the following features: short stature, limited mouth opening, short hands and feet with dysplastic nails; frontal and occipital bossing; and hypoplasia of the maxilla and mandible. Examination of the mouth: grooved palate, caries of the teeth, impacted and malposed teeth, persistent deciduous teeth and missing teeth. Laboratory investigations were normal. The radiographic examination showed a generalized increase in the bone density, slight condensation of the skull base and a very open mandibular angle. X-rays showed tapered phalanges with acro-osteolysis of the distal phalanges. A symptomatic treatment was proposed based on fracture prevention, oral hygiene, frequent dental visits and psychiatric support.Conclusion:The clinical and radiological features are the bases for the diagnosis of this disease. It is important to make the diagnosis as early as possible in order to plan the treatment and to provide a better life quality to the patients.

Osteoliza paliczków dystalnych w przebiegu twardziny układowej – opis przypadku

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Gerlicz-Kowalczuk Z, Pietrzak Z, Torzecka J, Woźnicka A, Dziankowska-Bartkowiak B. Acroosteolysis of distal phalanges in patient with systemic sclerosis – case report. Dermatology Review/Przegląd Dermatologiczny. 2016;103(6):465-468. doi:10.5114/dr.2016.63835. APA Gerlicz-Kowalczuk, Z., Pietrzak, Z., Torzecka, J., Woźnicka, A., & Dziankowska-Bartkowiak, B. (2016). Acroosteolysis of distal phalanges in patient with systemic sclerosis – case report. Dermatology Review/Przegląd Dermatologiczny, 103(6), 465-468. https://doi.org/10.5114/dr.2016.63835 Chicago Gerlicz-Kowalczuk, Zofia, Zbigniew Pietrzak, Jolanta D. Torzecka, Anna Woźnicka, and Bożena Dziankowska-Bartkowiak. 2016. "Acroosteolysis of distal phalanges in patient with systemic sclerosis – case report". Dermatology Review/Przegląd Dermatologiczny 103 (6): 465-468. doi:10.5114/dr.2016.63835. Harvard Gerlicz-Kowalczuk, Z., Pietrzak, Z., Torzecka, J., Woźnicka, A., and Dziankowska-Bartkowiak, B. (2016). Acroosteolysis of distal phalanges in patient with systemic sclerosis – case report. Dermatology Review/Przegląd Dermatologiczny, 103(6), pp.465-468. https://doi.org/10.5114/dr.2016.63835 MLA Gerlicz-Kowalczuk, Zofia et al. "Acroosteolysis of distal phalanges in patient with systemic sclerosis – case report." Dermatology Review/Przegląd Dermatologiczny, vol. 103, no. 6, 2016, pp. 465-468. doi:10.5114/dr.2016.63835. Vancouver Gerlicz-Kowalczuk Z, Pietrzak Z, Torzecka J, Woźnicka A, Dziankowska-Bartkowiak B. Acroosteolysis of distal phalanges in patient with systemic sclerosis – case report. Dermatology Review/Przegląd Dermatologiczny. 2016;103(6):465-468. doi:10.5114/dr.2016.63835.

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

Mandibuloacral dysplasia (MAD) is a rare disease resulting from a mutation of LMNA gene encoding lamins A and C. The most common mutation associated with this disease is a homozygous arginine 527 replacement by histidine. Three female patients originating from two unrelated families from Northeast Egypt were examined. Their growth was retarded; they had microcephaly, widened cranial sutures, prominent eyes and cheeks, micrognathia, dental crowding, hypoplastic mandible, acro-osteolysis of distal phalanges, and joint contractures. In addition, they presented some progeroid features, such as pinched nose, premature loss of teeth, loss of hair, scleroderma-like skin atrophy, spine rigidity, and waddling gait. The clinical presentation of the disease varied between the patient originating from Family 1 and patients from Family 2, suggesting that unknown, possibly epigenetic factors, modify the course of the disease. The first symptoms of the disease appeared at the age of 2.5 (a girl from Family 1), 5, and 3 years (girls from Family 2). All patients had the same, novel homozygous c.1580G>T LMNA mutation, resulting in the replacement of arginine 527 by leucine. Computational predictions of such substitution effects suggested that it might alter protein stability and increase the tendency for protein aggregation, and as a result, might influence its interaction with other proteins. In addition, restriction fragment-length polymorphism analysis performed in 178 unrelated individuals showed that up to 1.12% of inhabitants of Northeast Egypt might be heterozygous carriers of this mutation, suggesting the presence of a founder effect in this area.

Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease.

Patients with pycnodysostosis, a rare skeletal dysplasia, present with bone abnormalities such as short stature, acroosteolysis of distal phalanges, and skull deformities. The disease is caused by a deficiency of the cysteine protease cathepsin K which is responsible for degradation of collagen type I and other bone proteins. Osteoclasts, bone cells of hematopoietic origin responsible for bone mineral as well as protein matrix degradation, are dysfunctional in patients with pycnodysostosis due to mutations in the cathepsin K gene. Cathepsin K deficient osteoclasts can demineralize bone but cannot degrade the protein matrix. Mutations in the cathepsin K gene disrupting wild type cathepsin K activity have been described in patients with pycnodysostosis. Animal models of cathepsin K deficiency have been created and provide a valuable tool to study osteoclast function and treatment for cathepsin K deficiency. Understanding the regulation and role of cathepsin K in osteoclast function is important for designing future therapies for pycnodysostosis. Cathepsin K inhibitors will be useful in pathological processes involving excess osteoclast activation and bone resorption such as osteoporosis, bone metastasis and multiple myeloma. This review will discuss the bone remodeling cycle, the human disease pycnodysostosis caused by cathepsin K deficiency and cathepsin K activity and regulation.

Cryoglobulinemia in Raynaud's phenomenon due to vinyl chloride.

Raynaud's phenomenon was described in 22 workers engaged in vinyl chloride polymerization. Within this group, prodromal signs have been seen in 6 persons, typical Raynaud's syndrome in 10 persons. In the remaining 6 persons in addition to Raynaud's phenomenon slerodermalike changes in upper extremities and acro-osteolysis of distal phalanges of fingers were observed. Immunoelectrophoretic findings displayed increase in the levels of orosomucoid, ceruloplasmin, total lipids, and lipoproteins. Latent cryoglobulinemia, detectable after Sephadex G-200 filtration, was found in 18 sera (81,6%). The majority of precipitates was polyclonal, chiefly composed of immunoglobulin A and G. In 5 cases including 3 with acroosteolysis a substantial increase in serum IgG level was seen. The authors express the opinion that Raynaud's phenomenon due to the toxic effect of vinyl chloride is conditioned by cryoglobulinemia. It is assumed that the toxic mechanism of vinyl chloride is due to disturbances in humoral resistance of the organism.