نتایج جستجو برای: blaschko

تعداد نتایج: 203  

2016
Vito Pavone Salvatore Santo Signorelli Andrea Domenico Praticò Giovanni Corsello Salvatore Savasta Raffaele Falsaperla Piero Pavone Giuseppe Sessa Martino Ruggieri BA

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...

Journal: :The Journal of mental science 1955
J V MORRIS R C MACGILLIVRAY C M MATHIESON

A NUMBERof drugs have been employed in an attempt to increase the mental capacity of oligophrenics. The effect of thiamine on learning demonstrated by Harrell (1943, 1946) led Rudolf (1949, 1950) to use this vitamin in the treatment of oligophrenia. Similarly, the early studies of Zimmermann and Ross (1944) on glutamic acid resulted in a large number of papers on its debatable effect in feeblem...

Journal: :Archives of dermatology 2000
S Cambiaghi L Restano K Pääkkönen R Caputo J Kere

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...

Journal: :Chang Gung medical journal 2007
I-Hsin Shih Jing-Yi Lin Chien-Hsun Chen Hong-Shang Hong

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...

2014
Malene Trägårdh Christine Rohr Thomsen Rikke Thorninger Bjarne Møller-Madsen

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...

Journal: :Actas dermo-sifiliograficas 2015
E Baquero Sánchez A I Lorente-Lavirgen J Domínguez Cruz J Conejo-Mir

We report the case of a 63-year-old woman who presented a 3-month history of hyperpigmented and pruritic skin lesions in the lumbar region. Physical examination revealed violaceous-brown macules in a linear distribution with an italic S morphology (Fig. 1). The nails and mucosas were not affected. The patient did not report using systemic or topical treatments, exposure to the sun, or trauma pr...

Journal: :Actas dermo-sifiliograficas 2014
S de la Fuente A Hernández-Martín R Happle A Torrelo

Autosomal dominant skin diseases can sometimes present as linear mosaicism or as segmental mosaicism that follows the Blaschko lines. Type 1 mosaicism is characterized by the presence of a body segment affected by the disease in a healthy individual as a consequence of a postzygotic germline mutation in the segment. Type 2 mosaicism is characterized by the diffuse presentation of the disease in...

2009
Erick Chern Ji-Chen Ho Wei-Ming Wu

Corresponding author: Wei-Ming Wu, Department of Dermatology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Ta-Pei Road 123, Niao-Sung Hsiang, 83301 Kaohsiung, Taiwan TEL: 886-7-7317123 ext. 2299 FAX: 886-7-7337612 E-mail: [email protected] Funding source: none Confl ict of interest: none declared CASE REPORT A 24-year-old girl presented with linear verrucous skin lesions sinc...

Journal: :The Yale Journal of Biology and Medicine 1974
Margaret Biber

This volume consists of a collection of papers on the classical mitochondrial monoamine oxidase and other amine oxidases presented at the Festschrift for Dr. H. Blaschko at Cagliari, Sardinia, 1971. In it the results of many investigations on the biochemistry, pharmacology and possible function of these enzymes over the past several years have been brought together. Much of the book is devoted ...

2016
S. Polubothu L. Al‐Olabi L. Wilson W.K. Chong V.A. Kinsler

DEAR EDITOR, A 5-year-old girl was referred to us for evaluation of a pigmented birthmark, unchanged since birth, on her right cheek. There was no other previous medical history of note and no family history of relevant problems. Cutaneous examination revealed a pigmented keratinocytic epidermal naevus following fine Blaschko lines on the right cheek and neck (Fig. 1), and a solitary, 1-cm caf ...

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