کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8715547 | 1587487 | 2017 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure
ترجمه فارسی عنوان
رنگدانه پوستی تکرارپوستی و آنونشیا در بیمار مبتلا به نارسایی مغزی استخوان
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کلمات کلیدی
SCCHCTBMFNIHTBDIUGRTelomere - تلومرBone marrow failure - شکست مغز استخوانNational Institutes of Health - مؤسسات ملی بهداشتintrauterine growth restriction - محدودیت رشد داخل رحمیHematopoietic cell transplantation - پیوند مغز استخوانSquamous cell carcinoma - کارسینوم سلول سنگفرشیDyskeratosis congenita - کولونوسکوپی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
امراض پوستی
چکیده انگلیسی
Key teaching points
- DC is a TBD associated with bone marrow failure and the classic clinical triad of reticulate hyperpigmentation, nail dystrophy, and oral leukoplakia. Patients may not manifest all features of the triad, or they may present with other mucocutaneous findings, including epiphora, loss of dermatoglyphics, palmoplantar hyperkeratosis, early graying and/or hair loss, and hyperhidrosis.
- HH syndrome is a severe variant of DC characterized by additional findings of IUGR, microcephaly, cerebellar hypoplasia, developmental delay, and immunodeficiency.
- DC may be suggested by detection of very short telomeres and confirmed by genetic testing when positive. Early diagnosis aids in the initiation of lifestyle interventions, treatment of bone marrow failure, screening for malignancies, HCT donor selection, and genetic counseling for family members.
- DC is a TBD associated with bone marrow failure and the classic clinical triad of reticulate hyperpigmentation, nail dystrophy, and oral leukoplakia. Patients may not manifest all features of the triad, or they may present with other mucocutaneous findings, including epiphora, loss of dermatoglyphics, palmoplantar hyperkeratosis, early graying and/or hair loss, and hyperhidrosis.
- HH syndrome is a severe variant of DC characterized by additional findings of IUGR, microcephaly, cerebellar hypoplasia, developmental delay, and immunodeficiency.
- DC may be suggested by detection of very short telomeres and confirmed by genetic testing when positive. Early diagnosis aids in the initiation of lifestyle interventions, treatment of bone marrow failure, screening for malignancies, HCT donor selection, and genetic counseling for family members.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the American Academy of Dermatology - Volume 77, Issue 6, December 2017, Pages 1194-1198
Journal: Journal of the American Academy of Dermatology - Volume 77, Issue 6, December 2017, Pages 1194-1198
نویسندگان
Suzanne C. BE, Sharon A. MD, Neelam MD, Blanche P. MD, MPH, Edward W. MD, MHSc,