Harlequin ichthyosis

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Classification according to ICD-10
Q80.4 Ichthyosis congenita gravis [harlequin infectus]
ICD-10 online (WHO version 2019)

The Harlequin ichthyosis is a rare congenital skin disease and the most severe form of autosomal recessive congenital ichthyosis (ARCI) with the main feature of an armor-like covering of the whole body at birth and often before birth.

Harlequin ichthyosis in an infant .

Synonyms are: Ichthyosis congenita gravis; Harlequin fetus; Ichthyosis congenita Riecke I; Keratosis diffusa maligna; Ichthyosis congenita fetalis; Hyperkeratosis universalis congenita; Ichthyosis congenita universalis; Harlequin ichthyosis; ARCI; Ichthyosis, congenital, Harlequin type; Harlequin type ichthyosis fetalis

The first description comes from the year 1880 by Robert William Smith (1807–1873).

The disease is not to be confused with Harlequin syndrome .

distribution

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

root cause

The disease are mutations in ABCA12 - gene on chromosome 2 locus q35 based on that for a ABC transporter encoded.

Clinical manifestations

Clinical criteria are:

  • Large, thick, plate-like scales all over the body at birth, with severe ectropion (protuberance) of the eyelids and lips (harlequin fetus)
  • deep cracks in the skin, limited mobility of the extremities and chest
  • So-called collodion baby as if encased in a collodion membrane
  • Oral and genital mucosa affected
  • Contractures

diagnosis

The diagnosis is based on the clinical picture, suspicions can be raised intrauterine by sonography and confirmed by human genetics .

Differential diagnosis

The following are to be distinguished:

Prospect of healing

About half of those affected die around the time of birth due to respiratory failure or sepsis . Later on, the skin armor is somewhat regressive, flaking and erythroderma occur .

Advances in intensive care medicine have lowered mortality .

literature

  • K. Washio, M. Sumi, K. Nakata, A. Fukunaga, K. Yamana, T. Koda, I. Morioka, C. Nishigori, K. Yamanishi: Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced ​​transcripts of the ATP-binding cassette subfamily A member 12 gene. In: The Journal of dermatology. Vol. 44, No. 8, August 2017, pp. 950-953, doi: 10.1111 / 1346-8138.13823 , PMID 28295493 .
  • H. Ahmed, EA O'Toole: Recent advances in the genetics and management of harlequin ichthyosis. In: Pediatric Dermatology . Vol. 31, No. 5, 2014 Sep-Oct, pp. 539-546, doi: 10.1111 / pde.12383 , PMID 24920541 (review).

Individual evidence

  1. ↑ a b c d Harlequin ichthyosis. In: Orphanet (Rare Disease Database).
  2. ↑ a b c Encyclopedia Dermatology
  3. ↑ Who named it
  4. ↑ RW Smith: A case of intrauterine ichthyosis. In: American Journal of Obstetrics and Gynecology , 1880, Vol. 13, pp. 458-461.
  5. ↑ Ichthyosis, congenital, autosomal recessive 4B (harlequin).  In: Online Mendelian Inheritance in Man . (English)
  6. ^ S. Rathore, LS David, MM Beck, MS Bindra, G. Arunachal: Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis. In: Journal of clinical and diagnostic research: JCDR. Vol. 9, No. 11, November 2015, pp. QD04 – QD06, doi: 10.7860 / JCDR / 2015 / 15250.6705 , PMID 26675324 , PMC 4668483 (free full text).
  7. ↑ JB Glick, BG Craiglow, KA Choate, H. Kato, RE Fleming, E. Siegfried, SA Glick: Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. In: Pediatrics . Vol. 139, No. 1, January 2017, p., Doi: 10.1542 / peds.2016-1003 , PMID 27999114 (review).