About 60-70 % of the heterozygotes of X-linked hypohidrotic ectodermal dysplasia (XLHED) show some clinical manifestations of the disease. Dental abnormalities are key diagnostic features and can be best evaluated at a young age. Compared to controls, carriers have a significantly higher frequency of agenesis of permanent teeth with persistence of deciduous teeth, small teeth resulting in gaps ...

A recent survey of the urinary amino-acids of various animals (Datta & Harris, 1951, 1953) has shown taurine to be present in the urine of some species, e.g. the mouse, rat and dog, but absent from others, e.g. the guinea-pig, cow and rabbit; the occurrence of taurine in cat's urine is irregular. Some time ago an enzyme was described that liberates carbon dioxide from L-cysteic acid under anaer...

purpose: the aim of this study was to evaluate the effect of two gingival finishing lines (90° shoulder and deep chamfer) on the marginal fitness of two types of full anatomic all-ceramic crowns; zirconia crowns (zikonzhan) and glass ceramic crowns (ips e-max cad) milled with cad/cam system. materials and methods: two dentoform teeth of left maxillary first molar were prepared with chamfer fini...

Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syn...

BACKGROUND Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated. Even though X-linked and autosomal recessive forms are phenotypically similar, identification of the way of transmission is mandatory to give reliable genetic counseling to the family and to address molecular studies. Complete examination of rela...

BACKGROUND The prevalence of birthmarks in Taiwanese newborns has not been well studied. How gender and maturity of newborns affect presentation and prevalence of vascular birthmarks, in particular, has not been well documented. The aim of this survey was to catalog the above-mentioned problems. METHODS From May 9 through July 14, 2000, 500 newborns in Linkou and Taipei Chang Gung Memorial Ho...

INTRODUCTION Hypomelanosis of Ito was originally described as a purely cutaneous disease. Extracutaneous manifestations were described later, forming a neurocutaneous syndrome including skeletal, muscular, ocular and central nervous system symptoms.Hypomelanosis of Ito is characterized by a depigmentation along the lines of Blaschko on the trunk and extremities in certain patterns.The aim of th...

We read the article by Dr. Blaschko et al. with interest (1). They reported a 67 year-old diabetic male with persistent leukocytosis despite appropriate antibiotic treatment for pneumonia. After computed tomography (CT) evaluation, a 3.5 centimeter rim enhancing fluid collection at the level of his bulbar urethra was noticed. In the next step, under the guidance of transrectal ultrasonography, ...