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
doaj +1 more source
The pH of the skin surface and its impact on the barrier function [PDF]
, 2006 The `acid mantle' of the stratum corneum seems to be important for both permeability barrier formation and cutaneous antimicrobial defense. However, the origin of the acidic pH, measurable on the skin surface, remains conjectural.
Abeck D +41 more
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Antimicrobial peptides: agents of border protection for companion animals. [PDF]
, 2012 Over the past 20 years, there have been significant inroads into understanding the roles of antimicrobial peptides in homeostatic functions and their involvement in disease pathogenesis.
Affolter, Verena K +2 more
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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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Spontaneous melanotic lesions in axillary seabream, Pagellus acarne (Risso) [PDF]
, 2013 In this paper, we describe spontaneous melanotic lesions in the skin of axillary seabream, Pagellus acarne (Risso) from a defined area of the Portuguese Coast, located in Cabo da Roca and Foz do Arelho.
Branco, Sandra, Ramos, Paula, Victor, P
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Vitiligo and autoimmune thyroid disorders [PDF]
, 2017 Vitiligo represents the most common cause of acquired skin, hair and oral depigmentation, affecting 0.5-1% of the population worldwide. It is clinically characterized by the appearance of disfiguring circumscribed skin macules following melanocyte ...
Baldini, Enke +10 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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Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]
, 2017 Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identiļ¬ed as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam +11 more
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