013 Pigmentosa xeroderma group D: A clinical and genetic study of 19 Japanese cases
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چکیده
منابع مشابه
Prurigo pigmentosa: a clinical and histopathologic study of 11 cases.
BACKGROUND Prurigo pigmentosa is a rare inflammatory dermatosis of unknown etiology. It is characterized by a recurrent pruritic rash and net like pigmentation. Most of the reported cases have been from Japan; however, here we report on several cases from Taiwan. METHODS This was a single hospital-based retrospective study conducted in a tertiary medical center in Southern Taiwan, recruiting ...
متن کاملXeroderma pigmentosa--a disfiguring disease.
Xeroderma pigmentosa is a rare inherited autosomal recessive disease with the inability to repair DNA damage caused by UV light. Recognized in the late 1800 by Maritz Kaposi it has been reported world wide and in all races with an over prevalence of 1-4 per million population. Kunwar et al. Those affected are extremely sensitive to the UV portion of the light and have a 2000-fold increased risk...
متن کاملOculocutaneous manifestations in xeroderma pigmentosa.
Xeroderma pigmentosum (XP) is a rare genetic disease characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. The oculocutaneous features of 10 patients with XP were studied retrospectively. General features included parental consanguinity (40%), familiarity (60%), onset of symptoms in first 2 years (50%), malignant skin neoplasms (60%), ...
متن کاملClinical and laboratorial study of 19 cases of mucopolysaccharidoses.
UNLABELLED The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in ...
متن کاملa contrastive study of rhetorical functions of citation in iranian and international elt scopus journals
writing an academic article requires the researchers to provide support for their works by learning how to cite the works of others. various studies regarding the analysis of citation in m.a theses have been done, while little work has been done on comparison of citations among elt scopus journal articles, and so the dearth of research in this area demands for further investigation into citatio...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.07.109