From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.

Background: The skin is often seen as a world apart, but not rarely do cutaneous manifestations reveal signs of systemic disease.

Objectives: The aim of this review is to include in one paper all the possible correlations between nephrological and dermatological manifestations of the same disease in pediatric patients while also keeping in mind that in apparent exclusively dermatological diseases there can be nephrological manifestations as part of the same disorder and vice versa.

Methods: We searched on PubMed for a possible link between skin and kidney matching the following terms and correlated MeSH terms: dermatology, skin, kidney, renal disease, nephrology, pediatrics, child, childhood, vasculitis, and cancer.

Telmisartan alleviates collagen type III glomerulopathy: A case report with literature review.

Collagen type III is commonly detected in the renal interstitium and vasculature; however, it is absent in healthy glomeruli. Deposition of collagen type III in the glomerular mesangium and capillary basement membranes may arise in two rare diseases, namely collagen type III glomerulopathy (CG) and nail patella syndrome. CG is a rare glomerular disease with no specific treatment, although supportive measures for control of hypertension and edema may help to relieve symptoms.

Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report.

Nail-Patella syndrome (NPS) is an inherited disease characterized by nail and skeletal anomalies, nephropathy and glaucoma. The diagnosis of NPS is based on clinical findings, including hypoplastic or absent patella, dystrophic nails, dysplasia of the elbows and iliac horns. However, the main determinant of NPS prognosis is nephropathy, which may range from asymptomatic proteinuria to end-stage renal disease.

Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome.

Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS).

Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle-closure secondary to plateau iris. At the time of her NPS diagnosis, she had no ocular pathology.

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.

Background: In a Danish family, multiple individuals in five generations present with early-onset paroxysmal cranial dyskinesia, musculoskeletal abnormalities, and kidney dysfunction.

Objective: To demonstrate linkage and to identify the underlying genetic cause of disease.

Methods: Genome-wide single-nucleotide polymorphisms analysis, Sequence-Tagged-Site marker analyses, exome sequencing, and Sanger sequencing were performed.

Unicompartmental Knee Arthroplasty in a Patient with Nail-Patella Syndrome: A Case Report.

Case: A 46-year-old woman with a medical history of nail-patella syndrome (NPS) presented with chronic right knee pain. Radiographic and physical examination revealed isolated medial tibiofemoral osteoarthritis and a hypoplastic laterally subluxed patella. The patient was successfully treated with a medial unicompartmental knee arthroplasty (UKA).

Nail-patella syndrome: "nailing" the diagnosis in three generations.

Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns. Clinical presentation can be subtle, and the spectrum of presentation often makes NPS a challenging diagnosis. Herein, we describe three family members with nail-patella syndrome who presented with different features and varying severity.

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.

We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis of LMX1B gene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome.

Focal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression.

Focal and segmental glomerulosclerosis (FSGS) is a histopathological pattern of injury. As such, it encompasses a wide variety of dissimilar entities with different pathophysiologic mechanisms. Although ultrastructural morphological characteristics can specifically diagnose certain diseases and genetic mutations can also be unravelled, this ideal situation is generally not available worldwide.

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

Background: Myelin figures, or zebra bodies, seen on electron microscopy were historically considered pathognomonic of Fabry disease, a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency and associated with X-linked recessive mode of inheritance. More recently, iatrogenic phospholipidosis has emerged as an important alternate cause of myelin figures in the kidney.

Methods: We report two families with autosomal dominant nephropathy presenting with proteinuria and microscopic hematuria, and the kidney biopsies were notable for the presence of myelin figures and zebra bodies.

An Exome Sequencing Study of 10 Families with IgA Nephropathy.

Background: Immunoglobulin A nephropathy (IgAN) is a heterogeneous disorder with a strong genetic component. The advent of whole exome sequencing (WES) has accelerated the discovery of genetic risk factors underlying familial disorders.

Objectives: We set out to test whether damaging variants in known kidney disease genes explain a proportion of IgAN cases recruited in Ireland.

A Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement.

Nail diseases are rarely given significant importance in general consultation and their specific examination is often neglected, while localization to the nails could be an initial sign of a syndrome or a systemic disorder. Although rarely, nail alterations could be a sign of a systemic disorder, in which a prompt observation is crucial for an early diagnosis. We describe the case of an elderly woman with a long history of nail dystrophy, previously labelled as nail fragility.

Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.

Nail-patella syndrome (NPS) is a rare disorder characterized by abnormal development of ectodermal and mesodermal tissues. Classically, NPS presents as a triad of nail dysplasia, dysplastic patellae, and bony exostoses of the ilia known as "iliac horns." Apart from dermatological and skeletal abnormalities, patients may also have involvement of ophthalmologic and renal systems.

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome.

Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis. However, little has been reported on the epidermal basement membrane in this condition.

Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children.

Background: Congenital (fixed) dislocations and obligatory (habitual) patellar dislocations represent a complex clinical and surgical challenge. Numerous treatment options, offering different perspectives, and surgical solutions are reported in the literature.We implemented the surgical technique principles, originally described by Stanisavljevic, for congenital (fixed) and obligatory (habitual) patellar dislocations, with slight modifications.

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.

Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective experience with NPS, particularly the aspects of the syndrome that affect patients' adaptation and to propose interventions that can improve genetic and psychological counseling and help patients cope with their condition. Semi-structured interviews of nine people diagnosed with NPS were analyzed using interpretative phenomenological analysis.

A long noncoding RNA cluster-based genomic locus maintains proper development and visual function.

Long noncoding RNAs (lncRNAs) represent a group of regulatory RNAs that play critical roles in numerous cellular events, but their functional importance in development remains largely unexplored. Here, we discovered a series of previously unidentified gene clusters harboring conserved lncRNAs at the nonimprinting regions in brain (CNIBs). Among the seven identified CNIBs, human CNIB1 locus is located at Chr 9q33.

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.

Background: Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease. It is caused by heterozygous loss-of-function mutations in the LMX1B gene, which encodes LIM homeodomain transcription factor and is essential for regulating the dorsal limb fate.

Methods: A five generation pedigree was recruited.

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome.

Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by developmental defects of dorsal limb structures, the kidney, and the eye, that manifest as dysplastic nails, hypoplastic or absent patella, elbow dysplasia, iliac horns, glomerulopathy, and adult-onset glaucoma, respectively. This disorder is inherited in an autosomal dominant mode and is caused by heterozygous loss-of-function mutations in the gene, which encodes the LIM homeodomain transcription factor LMX1B. In this study, we report the clinical findings of a Spanish family, from the Canary Islands, with three affected members who displayed varying phenotypes.