Fanconi anaemia D61.0

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 08.12.2022

Synonym(s)

Anaemia familial infantile pernicious; Constitutional familial panmyelopathy; Familial infantile pernicious pernicious anaemia; Fanconi anemia; Fanconi pancytopenia; Fanconi Panmyelopathy; Panmyelopathy constitutional familial

History
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Fanconi, 1927

Definition
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Autosomal-recessive inherited aplastic anemia with progressive bone marrow atrophy and multiple associated malformations.

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Occurrence/Epidemiology
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Rarely, worldwide 1000-1500 diseases are described. Frequency: about 0.5/100.000 inhabitants. Common among Ashkenazi Jews and some populations in South Africa.

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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4 to 7 years old.

Clinical features
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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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Macrocytic anaemia, leukopenia and thrombopenia, hypo- to aplastic bone marrow, in chromosomal analysis increased chromosomal fragility.

Complication(s)
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Increased development of malignancies, especially ALL, liver tumours, squamous cell carcinomas of the skin or mucous membranes (oropharyngeal tract), M. Bowen. Increased infections (respiratory tract) and bleeding.

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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Therapy by oncologists and internists.

Progression/forecast
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Death usually before adulthood.

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