Cutaneous Findings in Fanconi Anemia

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Fanconi anemia (FA) is a genetic disorder that results in bone marrow failure, physical abnormalities, and solid organ malignancies. The diagnosis of FA is often delayed as the early disease characteristics have not been well established.

To outline the spectrum of cutaneous findings seen in patients with FA.

A cross-sectional study, where patients with FA received a full-body skin exam. Patient characteristics were summarized with mean (sd) for continuous and count (%) for categorical variables. Poisson regression and logistic regression models were used to examine the relationships between pigmentary changes and patient characteristics.

Nearly all of the patients (96.8%) had at least one cutaneous pigmentary alteration, most arising prior to the teenage years. The most common finding was café-au-lait macules (CALM). Other findings included hypopigmented macules, skin-fold freckle-like macules, extensive sun-exposed freckling, and both hypo- and hyperpigmented pigment macules.

Patients received a single assessment, so the number of pigmentary changes could not be assessed over time.

Characteristic morphology of FA includes faint and ill-defined CALM, hypopigmented skin-fold freckle-like macules and the concurrence of hypo- and hyperpigmented macules. The recognition of these findings could aid clinicians in making earlier diagnoses.
Original languageEnglish (US)
JournalJournal of the American Academy of Dermatology
StatePublished - Aug 1 2020

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  • Journal Article

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