Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure - 23/11/17
Doi : 10.1016/j.jaad.2017.07.018
Suzanne C. Ward, BE a, Sharon A. Savage, MD b, Neelam Giri, MD b, Blanche P. Alter, MD, MPH b, Edward W. Cowen, MD, MHSc a, ⁎ 
a Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland
b Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland
∗Correspondence to: Edward W. Cowen, MD, MHSc, Dermatology Branch, NCI, NIH, Bldg 10, Rm 12N240A, MSC 1908, 10 Center Dr, Bethesda, MD 20892-1908.Dermatology BranchNCI, NIHBldg 10, Rm 12N240A, MSC 1908, 10 Center DrBethesdaMD20892-1908
Abstract |
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. |
Key words : dyskeratosis congenita, reticulate pigmentation, telomere
Abbreviations used : BMF, DC, HCT, HH, IUGR, NIH, SCC, TBD
Plan
| Supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health and the National Institutes of Health (NIH) Medical Research Scholars Program, which is a public-private partnership supported jointly by the NIH and generous contributions to the Foundation for the NIH from the Doris Duke Charitable Foundation, The American Association for Dental Research, the Colgate-Palmolive Company, Genentech, and alumni of student research programs and other individual supporters via contributions to the Foundation for the National Institutes of Health. |
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| Conflicts of interest: None declared. |
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| Reprints not available from the authors. |
© 2017
Publié par Elsevier Masson SAS.
Vol 77 - N° 6
P. 1194-1198 - décembre 2017 Retour au numéro
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