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 dermatoglyphi...

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Bibliographic Details
Published in:Journal of the American Academy of Dermatology 2017-12, Vol.77 (6), p.1194-1198
Main Authors: Ward, Suzanne C., Savage, Sharon A., Giri, Neelam, Alter, Blanche P., Cowen, Edward W.
Format: Article
Language:English
Subjects:
Adolescent
Anemia, Aplastic - complications
Bone Marrow Diseases - complications
Bone Marrow Failure Disorders
Disease Progression
dyskeratosis congenita
Dyskeratosis Congenita - complications
Dyskeratosis Congenita - diagnosis
Fetal Growth Retardation - diagnosis
Hemoglobinuria, Paroxysmal - complications
Humans
Hypopigmentation - etiology
Intellectual Disability - complications
Intellectual Disability - diagnosis
Male
Microcephaly - complications
Microcephaly - diagnosis
Nails, Malformed - complications
Nails, Malformed - congenital
reticulate pigmentation
telomere
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Summary:•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.
ISSN:0190-9622
1097-6787
DOI:10.1016/j.jaad.2017.07.018