Autosomal recessive congenital ichthyosis

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Classification according to ICD-10
Q80.2 Lamellar Ichthyosis - Collodion Baby
Q80.8 Other congenital ichthyosis
ICD-10 online (WHO version 2019)

The autosomal recessive congenital ichthyosis (ARCI) is a group of very rare congenital disease with the main features of an ichthyosis and autosomal - recessive inheritance.

Former names: Ichthyosis congenita group or congenital ichthyoses

Classification

According to the Orphanet database, the group comprises :

distribution

The frequency is given as less than 1 in approx. 1,000,000, inheritance is autosomal - recessive .

root cause

Depending on the underlying mutation , the following types can be distinguished:

  • ARCI1 , synonyms: bathing suit ichthyosis; BSI , mutations in TGM1 - gene on chromosome 14 locus q12
  • ARCI2 , mutations in the ALOX12B gene on chromosome 17 locus p13.1
  • ARCI3 , mutations in the ALOXE3 gene on chromosome 17 locus p13.1
  • ARCI4A , synonyms: Ichthyosis Congenita IIB; ICR2B , mutations in the ABCA12 gene on chromosome 2 locus q35
  • ARCI4B , synonyms: Harlequin fetus , mutations in the ABCA12 gene on chromosome 2 locus q35
  • ARCI5 , synonyms: Ichthyosis Congenita III , mutations in the CYP4F22 gene on chromosome 19 locus p13.12
  • ARCI6 , mutations in the NIPAL4 gene on chromosome 5 locus q33.3
  • ARCI7 , mutations on chromosome 12 locus p11.2-q13.1
  • ARCI8 , synonyms: lamellar ichthyosis, late onset , mutations in the LIPN gene on chromosome 10 locus q23.31
  • ARCI9 , mutations in the CERS3 gene on chromosome 15 locus q26.3
  • ARCI10 , mutations in the PNPLA1 gene on chromosome 6 locus p21.31
  • ARCI11 , Synonyms: Ichthyosis With Hypotrichosis, Autosomal Recessive; ARIH; Ichthyosis And Follicular Atrophoderma With Hypotrichosis And Hypohidrosis; IFAH , mutations in the ST14 gene on chromosome 11 locus q24.3
  • ARCI12 , mutations in the CASP14 gene on chromosome 19 locus p13.12
  • ARCI13 , mutations in the CDR9C7 gene on chromosome 12 locus q13.3
  • ARCI14 , mutations in the SULT2B1 gene on chromosome 19 locus q13.33

literature

  • J. Uitto, L. Youssefian, H. Vahidnezhad: Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. In: The British journal of dermatology. Vol. 177, No. 2, August 2017, pp. 342-343, doi: 10.1111 / bjd.15689 , PMID 28833017 .
  • L. Rodríguez-Pazos, M. Ginarte, A. Vega, J. Toribio: Autosomal Recessive Congenital Ichthyosis. In: Actas Dermo-Sifiliográficas. Vol. 104, 2013, p. 270, doi: 10.1016 / j.adengl.2011.11.021

Individual evidence

  1. ↑ a b Ichthyosis, autosomal recessive congenital. In: Orphanet (Rare Disease Database).
  2. ↑ Encyclopedia Dermatology
  3. ^ Bathing suit ichthyosis. In: Orphanet (Rare Disease Database).
  4. ↑ Erythroderma, ichthyosiform congenital, non-bullous form. In: Orphanet (Rare Disease Database).
  5. ↑ Ichthyosis, exfoliative ORPHA: 289586. In: Orphanet (Rare Disease Database).
  6. ↑ Ichthyosis, lamellar ORPHA: 313. In: Orphanet (Rare Disease Database).
  7. ↑ Self-healing collodion baby. In: Orphanet (Rare Disease Database).
  8. ↑ Self-healing collodion baby, acral. In: Orphanet (Rare Disease Database).
  9. ↑ Ichthyosis, congenital, autosomal recessive 1.  In: Online Mendelian Inheritance in Man . (English)
  10. ^ Ichthyosis, congenital, autosomal recessive 2.  In: Online Mendelian Inheritance in Man . (English)
  11. ^ Ichthyosis, congenital, autosomal recessive 3.  In: Online Mendelian Inheritance in Man . (English)
  12. ↑ Ichthyosis, congenital, autosomal recessive 4A.  In: Online Mendelian Inheritance in Man . (English)
  13. ↑ Ichthyosis, congenital, autosomal recessive 4B.  In: Online Mendelian Inheritance in Man . (English)
  14. ^ Ichthyosis, congenital, autosomal recessive 5.  In: Online Mendelian Inheritance in Man . (English)
  15. ↑ Ichthyosis, congenital, autosomal recessive 6.  In: Online Mendelian Inheritance in Man . (English)
  16. ^ Ichthyosis, congenital, autosomal recessive 7.  In: Online Mendelian Inheritance in Man . (English)
  17. ^ Ichthyosis, congenital, autosomal recessive 8.  In: Online Mendelian Inheritance in Man . (English)
  18. ^ Ichthyosis, congenital, autosomal recessive 9.  In: Online Mendelian Inheritance in Man . (English)
  19. ^ Ichthyosis, congenital, autosomal recessive 10.  In: Online Mendelian Inheritance in Man . (English)
  20. ↑ Ichthyosis, congenital, autosomal recessive 11.  In: Online Mendelian Inheritance in Man . (English)
  21. ↑ Ichthyosis, congenital, autosomal recessive 12.  In: Online Mendelian Inheritance in Man . (English)
  22. ↑ Ichthyosis, congenital, autosomal recessive 13.  In: Online Mendelian Inheritance in Man . (English)
  23. ↑ Ichthyosis, congenital, autosomal recessive 14.  In: Online Mendelian Inheritance in Man . (English)

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