New clinico-genetic classification of trichothiodystrophy

Towards a new clinico-immunopathological classification of juvenile inflammatory arthritis.

The new Oxford Clinico-Pathological Classification of IgA nephropathy.

The new Oxford Classification of the Pathology of IgA nephropathy originated from an international collaborative effort of the Working Group of the International IgA Nephropathy Network and Renal Pathology Society. It provides a new common language to categorizing glomerular and tubulo-interstitial lesions in IgA nephropathy having a proved effect on progression. Although retrospective in desig...

Clinico-Genetic Study of Nail-Patella Syndrome

Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma. NPS is caused by loss-of-function mutations in the LMX1B gene. In this study, phenotype-genotype correlation was analyzed in 9 unrelated Korean children with NPS and their affecte...

Ectodermal dysplasias: a new clinical-genetic classification.

The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some co...

[Trichothiodystrophy: PIBIDS syndrome].

Trichothiodystrophy comprises a heterogeneous group of autosomal recessive entities. This fact gives rise to different interrelated neuroectodermal disorders. From a structural point of view these features are the result of the low tissue sulfur content. We report a case of trichothiodystrophy initially classified as Tay syndrome that based on clinical features, complementary exams as well as o...