Swimsuit ichthyosis

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

The swimsuit ichthyosis is a rare, the autosomal recessive congenital ichthyosis associated (ARCI) congenital skin disease with the main feature of a characteristic localized ichthyosis .

Synonyms are: bathing suit ichthyosis; BSI; ARCI1; Ichthyosis, Congenital, Autosomal Recessive 1 With Bathing Suit Distribution; Collodion Baby, Self-Healing; SHCB; Lamellar Exfoliation Of Newborn; Desquamation Of Newborn; Collodion fetus; Ichthyosis Congenita II; ICR2

The name was chosen when it was first described in 1994 by the South African doctor EJ Schulz.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 40 people have been reported, mainly from South Africa . Inheritance is autosomal - recessive .

root cause

Of the disease are mutations in TGM1 - gene on chromosome 14 locus q12 based, which for at the keratinization of the stratum corneum involved transglutaminase 1 encodes. The enzyme activity is apparently temperature-dependent and significantly reduced in warmer areas of the skin.

Clinical manifestations

Clinical criteria are:

  • Armor-like, large, thick, plate-like scales all over the body at birth
  • Healing of ichthyosis on arms and legs during the first few weeks of life
  • Lamellar ichthyosis- like scales on the trunk, scalp and armpits

literature

  • F. Trindade, T. Fiadeiro, A. Torrelo, HC Hennies, I. Hausser, H. Traupe: Bathing suit ichthyosis. In: European Journal of Dermatology  : EJD. Vol. 20, No. 4, 2010 Jul-Aug, pp. 447-450, doi: 10.1684 / ejd.2010.1008 , PMID 20522418 (Review).
  • K. Arita, WK Jacyk, V. Wessagowit, EJ van Rensburg, T. Chaplin, CA Mein, M. Akiyama, H. Shimizu, R. Happle, JA McGrath: The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. In: The Journal of investigative dermatology. Vol. 127, No. 2, February 2007, pp. 490-493, doi: 10.1038 / sj.jid.5700550 , PMID 16977323 .
  • V. Oji, JM Hautier, B. Ahvazi, I. Hausser, K. Aufenvenne, T. Walker, N. Seller, PM Steijlen, W. Küster, A. Hovnanian, HC Hennies, H. Traupe: Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. In: Human Molecular Genetics . Vol. 15, No. 21, November 2006, pp. 3083-3097, doi: 10.1093 / hmg / ddl249 , PMID 16968736 . [1]
  • WK Jacyk: Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. In: European Journal of Dermatology  : EJD. Vol. 15, No. 6, 2005 Nov-Dec, pp. 433-436, PMID 16280294 .

Individual evidence

  1. ↑ a b c d Bathing suit ichthyosis. In: Orphanet (Rare Disease Database).
  2. ^ EJ Schulz: Genodermatoses. In: Dermatologic clinics. Vol. 12, No. 4, October 1994, pp. 787-796, PMID 7805308 (review).
  3. ↑ NV Marukian, RH Hu, BG Craiglow, LM Milestone, J. Zhou, A. Theos, H. Kaymakcalan, DA Akkaya, JJ Uitto, H. Vahidnezhad, L. Youssefian, SJ Bayliss, AS Paller, LM Boyden, KA Choate : Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. In: JAMA dermatology. Vol. 153, No. 6, June 2017, pp. 537-543, doi: 10.1001 / jamadermatol.2017.0202 , PMID 28403434 .
  4. ↑ Ichthyosis, congenital, autosomal recessive 1.  In: Online Mendelian Inheritance in Man . (English)

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