Keywords Disease name and synonyms Definition Incidence Clinical description Treatment Etiology Diagnostic methods Antenatal diagnosis References Abstract Nail patella syndrome or hereditary osteo-onychodysplasia is an autosomal dominant disorder defined by the association of nail dysplasia, bone anomalies and renal disease. In addition to nail dysplasia, the patellas are hypoplastic or absent,...

Nail-patella syndrome is a rare disorder characterized classically by the tetrad of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns. Iliac horns are considered pathognomonic, and the presence of hypoplastic or aplastic patellae in conjunction with nail abnormalities is a cardinal feature of diagnosis. Elbow dysplasia is present in m...

Peripheral oedema is a commonly encountered clinical problem. Although it has many causes, its pathophysiology ultimately involves two processes: altered capillary haemodynamics and renal salt and water retention. A minority of cases are resistant to diuretic treatment; causes of such resistance include excessive sodium intake, poor diuretic drug absorption, reduced secretion of free diuretic i...

This paper presents a case of disseminated paracoccidioidomycosis in a 62-year-old male patient, who lives in Belo Horizonte, MG, Brazil. The patient was hospitalized with icteric syndrome of cholestatic pattern and weight loss, with loss 30 kg in 5 months. The imaging of the abdomen showed lesion of infiltrative pattern, affecting gallbladder and intrahepatic bile ducts, suggesting neoplasia o...

Psoriasis is the skin disease that most frequently affects the nails. Depending on the very nail structure involved, different clinical nail alterations can be observed. Irritation of the apical matrix results in psoriatic pits, mid-matrix involvement may cause leukonychia, whole matrix affection may lead to red lunulae or severe nail dystrophy, nail bed involvement may cause salmon spots, subu...

Brittle nail syndrome is a heterogeneous abnormality, characterized by increased fragility of the nail plate. Brittle nails affect about 20% of the population and women are affected twice as frequently as men. The vast majority of patients experience brittle nails as a significant cosmetic problem and a substantial number indicate that these nail abnormalities are painful, impair daily activiti...

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INTRODUCTION The nail-patella syndrome is a rare autosomal dominant condition with high penetrance. Pregnancy in such a patient is rare and we believe this to be the first report of a live birth occurring in a patient with nail-patella syndrome. CLINICAL PICTURE A 25-year-old patient presented in her first pregnancy with nephrotic syndrome associated with characteristic bone abnormalities and...