Fanconi anaemia D61.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 08.12.2022

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Synonym(s)

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

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History This section has been translated automatically.

Fanconi, 1927

Definition This section has been translated automatically.

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

Occurrence/Epidemiology This section has been translated automatically.

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 This section has been translated automatically.

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 This section has been translated automatically.

4 to 7 years old.

Clinic This section has been translated automatically.

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 This section has been translated automatically.

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

Complication(s)(associated diseases This section has been translated automatically.

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 This section has been translated automatically.

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 This section has been translated automatically.

Therapy by oncologists and internists.

Progression/forecast This section has been translated automatically.

Death usually before adulthood.

Literature This section has been translated automatically.

  1. Fanconi G (1927) Familial infantile pernicious anemia. Yearbook Pediatrics 117: 257-280
  2. Ogilvie P et al (2002) Skin manifestations of Fanconi anemia. dermatologist 53: 253-257

Authors

Last updated on: 08.12.2022

Author: Prof. Dr. med. Peter Altmeyer