ArticleJournal of the American Academy of Dermatology2021
Cutaneous findings in Fanconi anemia.
Article in Journal of the American Academy of Dermatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Longitudinal clinical manifestations of Fanconi anemia: A systematized review.Blood reviews · 2024Pooled it
- The tight bond between Fanconi anemia and aging.Frontiers in aging · 2026Review
- Clinical, cytogenetic, and molecular insights from 32 years of the Portuguese Fanconi anemia cohort.Genetics in medicine open · 2026Article
- Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.Children (Basel, Switzerland) · 2025Article
- Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.International journal of molecular sciences · 2025Review
- Key Ferroptosis Genes and their Predictive and Diagnostic Value in Fanconi Anemia.Physiological research · 2025Article
- Global Neurocognitive and Emotional Dysfunction in Fanconi Anemia: A Neuropsychological Case Report of a 39-Year-Old Patient.Case reports in neurological medicine · 2025Article
- Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia.Familial cancer · 2024Observational
- Phenotypic Variability and Cutaneous Features in 2 Siblings with Fanconi Anaemia and FANCA Mutation.Acta dermato-venereologica · 2024Article
- Validation of selection signatures for coat color in the Podolica Italiana gray cattle breed.Frontiers in genetics · 2024Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
- Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders.Frontiers in oncology · 2022Review
- Skin Pigmentation Abnormalities and Their Possible Relationship with Skin Aging.International journal of molecular sciences · 2021Review
- Review
- Dermoscopy aids in differentiating café-au-lait macules from congenital melanocytic nevi in patients with darker skin phototypes.Pediatric dermatologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundFanconi 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.
objectiveTo outline the spectrum of cutaneous findings seen in patients with FA.
methodsA 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.
resultsAt 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.
conclusionsCharacteristic 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.