Lamellar ichthyosis

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q80.2 Lamellar Ichthyosis - Collodion Baby
ICD-10 online (WHO version 2019)

The lamellar ichthyosis (LI) is the most common form of autosomal recessive congenital ichthyosis and congenital disease with an existing at birth flaking all over, but without erythroderma .

Sometimes the term “lamellar ichthyosis” covers several genetically heterogeneous diseases, including an autosomal dominant form.

Synonyms are: ichthyosis, congenital lamellar; Ichthyosis, lamellar, classic form; lamellar desquamation in newborns; Latin Ichthyosis lamellaris; Ichthyosis lamellosa; Exfoliatio oleosa neonatorum ; English Nonbullous congenital ichthyosis

distribution

The frequency is given as 1 to 9 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease is genetically heterogeneous.

The causes are the following proven mutations , compare also congenital ichthyosiform erythroderma (CIE):

  • TGM1 - gene on chromosome 14 locus q11, (most frequent change), which codes for transglutaminase 1
  • ABCA12 gene on chromosome 2 (2q34), which codes for an ATP-binding cassette (ABC) transporter.
  • ALOX12B gene on chromosome 12 (17p13), which codes for arachidonate-12 (R) -lipoxygenase.
  • NIPAL4 gene on chromosome 5 (5q33), which probably codes for a membrane receptor

such as

Clinical manifestations

Clinical criteria are:

  • Often manifested as a newborn by a collodion membrane, ectropion of the eyelids and lips
  • Rejection of the membrane after 1 to 2 weeks
  • Scales all over the body, either large, dark and plate-shaped or lighter and thinner
  • No erythroderma
  • Itchy or painful skin with limited mobility

There are countless transitions between LI and CIE, and the clinical picture can also change over time.

Differential diagnosis

The following are to be distinguished:

literature

  • B. Hanson, L. Becker, K. Hook, I. Polcari, RG Areaux, S. Maguiness: Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis. In: Pediatric dermatology. Vol. 34, No. 5, September 2017, pp. 584-589, doi: 10.1111 / pde.13240 , PMID 28815772 .
  • H. Ozyürek, A. Kavak, M. Alper: Lamellar ichthyosis: a case report. In: The Turkish journal of pediatrics. Vol. 44, No. 1, 2002 Jan-Mar, pp. 58-60, PMID 11858382 .

Individual evidence

  1. ↑ a b c d e ichthyosis, lamellar ORPHA: 313. In: Orphanet (Rare Disease Database).
  2. ↑ a b Encyclopedia Dermatology
  3. ↑ Ichthyosis, congenital, autosomal recessive 1.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Ichthyosis, congenital, autosomal recessive 4A.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Ichthyosis, congenital, autosomal recessive 6.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ emedicine.medscape
  7. ^ Ichthyosis, congenital, autosomal recessive 3.  In: Online Mendelian Inheritance in Man . (English)
  8. ^ Ichthyosis, congenital, autosomal recessive 5.  In: Online Mendelian Inheritance in Man . (English)
  9. ^ Ichthyosis, congenital, autosomal recessive 8.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ Ichthyosis, congenital, autosomal recessive 14.  In: Online Mendelian Inheritance in Man . (English)

Web links