Ichthyosis Vulgaris and X-linked Ichthyosis: Simultaneous Segregation in the Same Family
نویسندگان
چکیده
منابع مشابه
Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence.
Pycnodysostosis is a rare autosomal recessive disorder whose gene responsible for this phenotype (CTSK), mapped to human chromosome 1q21, code for the enzyme cathepsin K, a lysosomal cysteine protease; with an estimated incidence of 1.7 per 1 million births. This clinical entity includes micromelic dwarfism, increased radiological bone density, dysplasia of the skull, acro-osteolysis, straighte...
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A case of unrecognized widespread dermatophyte infection associated with ichthyosis vulgaris and atopy is described. Our patient was a young woman in which the diagnosis of ichthyosis vulgaris and atopic dermatitis blocked the recognition of widespread dermatophyte infection for more than six months. The case showed some clinical peculiarities in terms of both extent of lesions and their clinic...
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Single gene recessive genetic skin disorders offer attractive prototypes for the development of therapeutic cutaneous gene delivery. We have utilized X-linked ichthyosis (XLI), characterized by loss of function of the steroid sulfatase arylsulfatase C (STS), to develop a model of corrective gene delivery to human skin in vivo. A new retroviral expression vector was produced and utilized to effe...
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A female baby who was born by normal vaginal delivery with a birth weight of 2 600 g at the 34th gestational age as the third living baby from the fifth pregnancy of a 32-year old woman was admitted to the neonatal intensive care unit. No consanguineous marriage was reported in the familial history. It was learned that the patient had a healthy brother and a sister, but her two sisters were los...
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The main proteinaceous component of the keratohyalin granules within the granular layer keratinocytes of the epidermis is the giant, repetitive polyprotein profilaggrin. When granular layer cells commit to terminal differentiation to form the flattened squames of the stratum corneum, profilaggrin is rapidly cleaved into multiple copies of the 37 kDa filaggrin monomer, which binds to and condens...
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ژورنال
عنوان ژورنال: Acta Dermato-Venereologica
سال: 1999
ISSN: 0001-5555
DOI: 10.1080/000155599750010120