Results 11 to 20 of about 305,683 (163)
Anais Brasileiros de Dermatologia, 2014 Brooke-Spiegler syndrome is an autosomal dominant disorder with variable penetrance and expression. It is characterized by a genetic predisposition to develop multiple adnexal neoplasias: cylindromas, trichoepitheliomas, and trichoblastomas.
Fernanda Guedes Lavorato +4 more
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Identification of the pathogenic variants in three Chinese families with dyschromatosis symmetrica hereditaria [PDF]
Jichu yixue yu linchuang, 2023 Objective To analyze the clinical features and to identify the pathogenic variants in three Chinese families with dyschromatosis symmetrica hereditaria (DSH).
YANG Xueting, GUO Kexin, SUN Yang, WANG Rongrong, MA Donglai, ZHANG Xue
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Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome [PDF]
Anais Brasileiros de Dermatologia, 2014 The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females.
Hiram Larangeira de Almeida Jr. +5 more
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Vohwinkel syndrome: ichthyosiform variant in a family [PDF]
Anais Brasileiros de Dermatologia, 2018 : Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr +2 more
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Update on DNA methylation in UV radiation-related skin diseases
Pifu-xingbing zhenliaoxue zazhi, 2023 DNA methylation is a common epigenetic phenomenon that changes genetic expression without altering the DNA sequence. With deepening research on DNA methylation, more and more variable positions of methylation have been identified in a variety of diseases(
Wenting CHEN, Xinni ZHONG, Wei LI
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Molecular Therapy: Nucleic Acids, 2018 Recessive dystrophic epidermolysis bullosa is a rare and severe genetic skin disease resulting in blistering of the skin and mucosa. Recessive dystrophic epidermolysis bullosa (RDEB) is caused by a wide variety of mutations in COL7A1-encoding type VII ...
Araksya Izmiryan +5 more
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Anais Brasileiros de Dermatologia, 2013 Linear Darier is a rare variant of Darier's Disease. The keratotic papules follow Blaschko's lines, characterizing the cutaneous mosaicism. We report the case of a 42-year-old woman who presented with small, linearly distributed, reddish-brown papules on
Fernanda Guedes Lavorato +5 more
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F1000Research, 2014 Solitary mastocytoma, a rare dermatological entity accounts for 10-15% of cutaneous mastocytosis. We report a rare case of solitary mastocytoma presenting at birth, treated successfully with topical tacrolimus. Along with reassurance and strict avoidance
M. S. Sukesh +4 more
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Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient [PDF]
Anais Brasileiros de Dermatologia, 2014 Buschke-Fisher-Brauer keratoderma is a rare hereditary autosomal dominant disease of incomplete penetrance. Important differential diagnoses include other palmoplantar keratinization disorders, acquired or hereditary, which is done based on the ...
João Roberto Antonio +3 more
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Nature Communications, 2022 Microbiome composition is influenced by genetics, although the specific host genetic factors responsible are not well known. Here, the authors performed a genome-wide meta-analysis to discover host genetic effects on skin microbiota and finding potential
Lucas Moitinho-Silva +17 more
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