Cutaneous findings in Fanconi anemia.
Fanconi anemia
café-au-lait macules
diagnosis
graft-versus-host disease
hematopoietic stem cell transplantation
hyperpigmentation
hyperpigmented macules
hypopigmentation
hypopigmented macules
radiation
skin-fold freckle-like macules
skin-fold freckling
sun-exposed freckling
voriconazole
Journal
Journal of the American Academy of Dermatology
ISSN: 1097-6787
Titre abrégé: J Am Acad Dermatol
Pays: United States
ID NLM: 7907132
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
received:
20
03
2020
revised:
04
08
2020
accepted:
13
08
2020
pubmed:
22
8
2020
medline:
5
3
2022
entrez:
22
8
2020
Statut:
ppublish
Résumé
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 because 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 in which patients with FA received a full-body skin examination. Patient characteristics are 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. At least 1 cutaneous pigmentary alteration was present in 96.8% of patients, most arising before the teenage years. The most common finding was café-au-lait macules. Other findings included hypopigmented macules, skin-fold freckle-like macules, extensive sun-exposed freckling, and both hypopigmented 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 café-au-lait macules, hypopigmented skin-fold freckle-like macules and the concurrence of hypopigmented and hyperpigmented macules. The recognition of these findings could aid clinicians in making earlier diagnoses.
Sections du résumé
BACKGROUND
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 because the early disease characteristics have not been well established.
OBJECTIVE
To outline the spectrum of cutaneous findings seen in patients with FA.
METHODS
A cross-sectional study in which patients with FA received a full-body skin examination. Patient characteristics are 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.
RESULTS
At least 1 cutaneous pigmentary alteration was present in 96.8% of patients, most arising before the teenage years. The most common finding was café-au-lait macules. Other findings included hypopigmented macules, skin-fold freckle-like macules, extensive sun-exposed freckling, and both hypopigmented and hyperpigmented pigment macules.
LIMITATIONS
Patients received a single assessment, so the number of pigmentary changes could not be assessed over time.
CONCLUSIONS
Characteristic morphology of FA includes faint and ill-defined café-au-lait macules, hypopigmented skin-fold freckle-like macules and the concurrence of hypopigmented and hyperpigmented macules. The recognition of these findings could aid clinicians in making earlier diagnoses.
Identifiants
pubmed: 32822789
pii: S0190-9622(20)32438-5
doi: 10.1016/j.jaad.2020.08.047
pmc: PMC7889753
mid: NIHMS1641143
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1253-1258Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR002494
Pays : United States
Informations de copyright
Copyright © 2020 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.
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