Fanconi anaemia D61.0
Synonym(s)
History
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Definition
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Occurrence/Epidemiology
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Etiopathogenesis
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Autosomal recessive inherited defects of Fanconi anemia Complementation group genes FANCA (gene locus: 16q24.3), FANCB (gene locus: 13q12.3), FANCC (gene locus: 9q22.3), FANCD1 (gene locus: 13q12.3), FANCD2 (3p25.3), FANCE (gene locus: 6p22-p21), FANCF (gene locus: 11p15), FANCG (gene locus: 9p13) or FANCL (gene locus: 2p16.1).
Manifestation
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Clinic
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Skin lesions: Dirty-brown, areal hyperpigmentation of the intertrigines, on the neck, perioral, perianal, perigenital, besides patchy hypopigmentation ("raindrop-shaped"). Less frequently, isolated café-au-lait spots.
Extracutaneous manifestations: Chronic progressive anemia (mostly hyperchromic-macrocytic) and increased susceptibility to infection. In addition, short stature, microcephaly, hypogenitalism, hypo- to aplasia of the radial forearm and hand, multiple malformations of internal organs.
Laboratory
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Complication(s)(associated diseases
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External therapy
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Nourishing externals. Hypopigmentation can be covered with camouflage (e.g. Dermacolor) if necessary.
In case of hyperpigmentation, fading with hydroquinone ointment(e.g. Pigmanorm) if necessary. Adverse drug reactions and nephropathies may occur as side effects of the therapy, contraindicated during pregnancy and lactation!
Internal therapy
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Progression/forecast
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Literature
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- Fanconi G (1927) Familial infantile pernicious anemia. Yearbook Pediatrics 117: 257-280
- Ogilvie P et al (2002) Skin manifestations of Fanconi anemia. dermatologist 53: 253-257
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Incoming links (16)
Anaemia, familial, infantile, pernicious; Dyskeratosis congenita; Familial cancer syndrome; FANCA Gene; FANCA Gene; Fanconi pancytopenia; Fanconi panmyelopathy; Fanconi syndrome; Fanconi-zinsser syndrome; Hereditary thrombocytopenia; ... Show allOutgoing links (8)
Adverse drug reactions of the skin; Bowen's disease; Café-au-lait stain; Camouflage; FANCA Gene; Hydroquinone; Hyperpigmentation; Hypopigmentation;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer