Milroy disease

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Classification according to ICD-10
Q82.0 Hereditary lymphedema
ICD-10 online (WHO version 2019)

The Milroy's disease is a very rare congenital form of a Lymphödemes the main features from pain and manifestation shortly after birth .

Synonyms are: Hereditary lymphedema type I nun Milroy; Trophedema, Nun-Milroy type; Nun-Milroy Syndrome; English Milroys disease ; Lymphedema, Nun-Milroy type; Latin Elephantiasis congenita hereditaria

The name refers to the first authors of the first description from the year 1891 by the German neurologist Max Nonne (1861–1959) and from the year 1892 by the American internist William Forsyth Milroy (1855–1942)

distribution

The frequency is not known, the inheritance is autosomal dominant , girls are affected much more often.

root cause

The disease are mutations in FLT4 - gene in chromosome 5 locus q35.3 based encoding a vascular endothelial growth factor.

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on the clinic and can possibly be made intrauterine .

therapy

Treatment with compression stockings can be tried.

Prospect of healing

It often worsens during puberty .

history

The disease used to be known as Nun-Milroy-Meige Syndrome .

literature

  • E. Urbaneja Rodríguez, R. Garrote Molpeceres, MA Pino Vázquez, H. González García: [Primary lymphedema due to Milroy disease]. In: Anales de pediatria (Barcelona, ​​Spain: 2003). [Electronic publication before printing] January 2016, doi: 10.1016 / j.anpedi.2015.12.007 , PMID 26818397 .
  • S. Gokhale, S. Gokhale: Four generations of rare familial lymphedema (Milroy disease). In: Medical principles and practice: international journal of the Kuwait University, Health Science Center. Vol. 22, 2013, pp. 593-596, doi: 10.1159 / 000351571 , PMID 23751338 .
  • G. Brice: Milroy disease and the VEGFR-3 mutation phenotype. In: Journal of Medical Genetics . Vol. 42, 2005, p. 98, doi: 10.1136 / jmg.2004.024802 .

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b Milroy disease. In: Orphanet (Rare Disease Database).
  3. ↑ a b c d Encyclopedia Dermatology
  4. ↑ M. Nun: Four cases of elephantiasis congenita hereditaria. In: [Virchows] archive for pathological anatomy and physiology and for clinical medicine, Berlin, vol. 125, 1891, pp. 189–196.
  5. ↑ WF MiIlroy: An undescribed variety of hereditary edema. In: Journal of the American Medical Association , Chicago , Vol. 56, 1892, pp. 505-508.
  6. ↑ Lymphedema, hereditary, IA.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ J. Benard, J. Saada, J. Amiel, S. Vignes, A. Benachi, O. Picone: Prenatal diagnosis of Milroy disease. In: Prenatal diagnosis. Volume 31, Number 12, December 2011, pp. 1207-1209, doi: 10.1002 / pd.2864 , PMID 22021048 .
  8. ^ Entry on Nonne-Milroy-Meige-Syndrome in Flexikon , a Wiki of the DocCheck company

Web links