4 years ago

Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure

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.

Publisher URL: www.sciencedirect.com/science

DOI: S0190962217321473

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