Epidermolytic Ichthyosis
| Classification according to ICD-10 | |
|---|---|
| Q80.3 | Bullous congenital ichthyosiform erythroderma |
| ICD-10 online (WHO version 2019) | |
The Epidermolytic ichthyosis is a rare congenital skin disease ( genodermatosis ), a form of ichthyosis with the main features blistering already in neonates with hyperkeratosis .
It can be viewed as a special form of harlequin ichthyosis .
Synonyms are: EI; Bullous Congenital ichthyosiform Erythroderma Brocq; BCIE; Erythroderma, ichthyosiform congenital, bullous form; Epidermolytic hyperkeratosis; EHK; Ichthyosis, bullous; Latin: Erythrodermia ichthyosiformis congenitalis Brocq; Keratosis rubra congenita groove;
The name designations refer to the first description from the year 1902 by the French dermatologist Louis-Anne-Jean Brocq and independently from the year 1903 by the Austrian dermatologist Johann Heinrich Rille (1864–1956) (quoted from)
distribution
The frequency is given as less than 1 in 200,000, inheritance is autosomal dominant .
root cause
Of the disease are mutations in KRT1 - gene on chromosome 12 locus q13.13 or KRT10 gene on chromosome 17 locus based q21.1 which nzw for keratin. 1 Code keratin 10.
Clinical manifestations
Clinical criteria are:
- From birth, extensive erythroderma , blistering with peeling skin and hyperkeratosis
- Initially exudation , in the first months of life transition to cornifications , blistering progressing in episodes and decreasing with increasing age
- Mainly palms, soles of the feet, flexors of the body, torso and face, mucous membranes not affected
- Histologically acantholytic hyperkeratosis
Clinical special forms are those
- Annular epidermolytic ichthyosis
- Epidermolytic superficial ichthyosis , synonyms: Ichthyosis bullosa Siemens; BE
Differential diagnosis
The following are to be distinguished:
literature
- M. Kucharekova, K. Mosterd, V. Winnepenninckx, M. van Geel, A. Sommer, MA van Steensel: Bullous congenital ichthyosiform erythroderma of Brocq. In: International Journal of Dermatology . Vol. 46 Suppl 3, November 2007, pp. 36-38, doi: 10.1111 / j.1365-4632.2007.03510.x , PMID 17973888 .
Individual evidence
- ↑ a b c ichthyosis, epidermolytic. In: Orphanet (Rare Disease Database).
- ↑ 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 .
- ↑ a b Encyclopedia Dermatology
- ↑ LAJ Brocq: erythroderma congenital ichtyosiforme avec hyperepidermotrophie. In: Annales de dermatologie et de syphilographie (Paris), 1902, Vol. III, pp. 1–31
- ↑ Who named it
- ^ EA Gollmer: IV. A case of Erythrodermia ichthyosiformis congenita (Brocq) or Keratosis rubra congenita (Rille). In: Dermatology. 44, 2004, p. 235, doi: 10.1159 / 000251221 .
- ↑ D. Sander, J. Schröder, I. Schönbuchner, J. Schreml, S. Karrer, M. Berneburg, S. Schreml: Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq. In: Case reports in dermatology. Vol. 8, No. 1, 2016 Jan-Apr, pp. 19-21, doi: 10.1159 / 000443695 , PMID 26933410 , PMC 4772537 (free full text)
- ↑ Epidermolytic hyperkeratosis. In: Online Mendelian Inheritance in Man . (English)
- ↑ Ichthyosis, cyclic, with epidermolytic hyperkeratosis. In: Online Mendelian Inheritance in Man . (English)
- ↑ Ichthyosis, annular epidermolytic. In: Orphanet (Rare Disease Database).
- ↑ Ichthyosis, epidermolytic superficial. In: Orphanet (Rare Disease Database).
- ↑ Ichthyosis hystrix Curth-Macklin. In: Orphanet (Rare Disease Database).
