Arrhinia

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Classification according to ICD-10
Q30.1 Agenesis and underdevelopment of the nose
ICD-10 online (WHO version 2019)

The arrhinia , from ancient Greek ἀ (ν) - a-, an- , German 'negation: un-, without' (Alpha privativum) and ancient Greek ῥίς, ῥίνος rhīs, rhinos , German 'nose' , is an extremely rare malformation with a complete or partial absence of the nose .

Synonym : nasal agenesis; English Arhinia

The first description comes from 1931 by the US surgeon Vilray Papin Blair and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 50 people have been reported.

Classification

Arrhinia can occur in isolation, in extreme forms of malformations such as holoprosencephaly , ethmocephaly (extreme form of hypotelorism, arrhinia with proboscis) or Treacher Collins syndrome as well as in Bosma syndrome (arrhinia, choanal atresia and microphthalmia).

The expression ranges from hyporrhinia with the absence of external nasal structures to complete arrhinia with the absence of the external nose, the nasal cavity and the olfactory bulbs . It can also occur unilaterally as hemiarrhinia .

root cause

The cause is not known.

It is a disorder of the embryonic development during the 3rd – 10th Embryonic week. The arrhinia usually occurs sporadically. Often there are other malformations such as hypertelorism , microphthalmia , eyelid coloboma , cleft formations and auricular malformations .

Clinical manifestations

Clinical criteria are:

Depending on the extent of the malformation, the airways are obstructed and there are drinking difficulties, which may require emergency interventions .

diagnosis

The diagnosis can be made prenatally using prenatal diagnostics .

therapy

Depending on the degree of severity, treatment is carried out in an emergency immediately after birth and later through plastic surgery in appropriately specialized centers.

literature

  • RL Ng, K. Rajapathy, Z. Ishak: Congenital arhinia - First published case in Malaysia. In: The Medical journal of Malaysia. Volume 72, number 5, 10 2017, pp. 308-310, PMID 29197888 .
  • U. Mondal, R. Prasad: Congenital Arhinia: A Rare Case Report and Review of Literature. In: Indian journal of otolaryngology and head and neck surgery: official publication of the Association of Otolaryngologists of India. Volume 68, Number 4, December 2016, pp. 537-539, doi: 10.1007 / s12070-016-1009-x , PMID 27833885 , PMC 5083650 (free full text).

Individual evidence

  1. ↑ a b c M. M. Zhang, YH Hu, W. He, KK Hu: Congenital arhinia: A rare case. In: The American Journal of Case Reports. Volume 15, 2014, pp. 115-118, doi: 10.12659 / AJCR.890072 , PMID 24678375 , PMC 3966695 (free full text).
  2. ↑ a b c d e f Isolated arrhinia. In: Orphanet (Rare Disease Database).
  3. ^ VP Blair, JB Brown: Nasal abnormalities, fancied and real. In: Surgery, Gynecology and Obstetrics , Vol. 52, pp. 796-819, 1931.
  4. ^ VP Blair, JB Brown: Nasal abnormalities, fancied and real. In: International Journal of Orthodontia, Oral Surgery and Radiography. 18, 1932, p. 363, doi: 10.1016 / S0099-6963 (32) 80076-1 .
  5. ↑ 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 .
  6. ^ Pschyrembel online
  7. ↑ M. Hansen, MJ Lucarelli, DA Whiteman, JB Mulliken: Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas. In: American journal of medical genetics. Volume 61, Number 1, January 1996, pp. 71-74, doi : 10.1002 / (SICI) 1096-8628 (19960102) 61: 1 <71 :: AID-AJMG14> 3.0.CO; 2-T , PMID 8741923 .
  8. ^ S. Majewski, AE Donnenfeld, K. Kuhlman, A. Patel: Second-Trimester Prenatal Diagnosis of Total Arhinia. In: Journal of Ultrasound in Medicine 2007; Vol. 26, pp. 391–395 [1]
  9. ^ X. Li, L. Zhang, F. Wang: Prenatal diagnosis of total arhinia by MRI. In: Japanese journal of radiology. Volume 33, Number 10, October 2015, pp. 672-674, doi: 10.1007 / s11604-015-0473-7 , PMID 26311082 .
  10. ↑ MJ Ali, S. Singh, MN Naik: Image-guided lacrimal drainage surgery in congenital arhinia-microphthalmia syndrome. In: Orbit. Volume 36, Number 3, June 2017, pp. 137-143, doi: 10.1080 / 01676830.2017.1280059 , PMID 28272904 (Review).
  11. ↑ JW Jung, DH Ha, BY Kim, BF Seo, HH Han, DH Kim, JW Rhie, SW Kim, DW Cho: Nasal Reconstruction Using a Customized Three-Dimensional-Printed Stent for Congenital Arhinia: Three-Year Follow-up. In: The Laryngoscope. Volume 129, number 3, 03 2019, pp. 582-585, doi: 10.1002 / lary.27335 , PMID 30247752 .
  12. ↑ N. Fernandes, J. van den Heever, L. Sykes, H. Kluge: Nasal reconstruction of a patient with complete congenital arhinia: A clinical report. In: The Journal of prosthetic dentistry. Volume 116, number 6, December 2016, pp. 924-927, doi: 10.1016 / j.prosdent.2016.04.014 , PMID 27318501 .

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