Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence
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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...
متن کاملAn unusual case of pycnodysostosis.
A 6 year old boy with clinical and radiological features of pycnodysostosis is described. In addition to pycnodysostosis he had a myelophthisic type of anaemia suggesting an overlap with osteopetrosis.
متن کاملUnrecognized dermatophyte infection in ichthyosis vulgaris.
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...
متن کاملPycnodysostosis with unusual findings: a case report
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for Pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough under...
متن کاملSterols of Chlorella. II. The Occurrence of an Unusual Sterol Mixture in Chlorella vulgaris.
The first identification of a sterol in Chlorella was by Klosty and Bergmann (5) in 1952 when they isolated ergosterol from Chlorella pyrenoidosa. More recently, Otsuka (6) identified ergosterol and a A5 sterol in Chlorella ellipsoidea. Ergosterol was the principal component of the mixture. Recent work in this laboratory has been centered about the identification of sterols from other species o...
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ژورنال
عنوان ژورنال: Acta Medica Academica
سال: 2012
ISSN: 1840-1848,1840-2879
DOI: 10.5644/ama2006-124.54