X-linked ichthyosis

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Classification according to ICD-10
Q80.1 X-linked recessive ichthyosis
ICD-10 online (WHO version 2019)

The X-linked ichthyosis is a keratinization disorders belonging to the genodermatosis and is the second most common form of ichthyosis with the main feature of hyperkeratosis .

Synonyms are: steroid sulfatase deficiency; Recessive ichthyosis vulgaris; sex-linked ichthyosis vulgaris; Ichthyosis vulgaris, Wells-Kerr type; Wells-Kerr Ichthyosis; Ichthyosis sauroderma; xerodermia; Ichthyosis serpentina; English X-linked ichthyosis; XLI

The first description is from 1928 by K. Csorsz.

The name refers to the authors of a 1965 publication by RS Wells and CB Kerr.

distribution

The frequency is given as 1–5 in 10,000, inheritance is X-linked - recessive .

In relation to the almost exclusively affected boys, the frequency is 1 in 2,000-4,000.

root cause

The disease are mutations in the STS - gene on the X chromosome locus p22.31 based encoding the steroid sulfatase involved in the regulation of the permeability barrier and desquamation involved the skin.

There are also forms without steroid sulfatase deficiency.

In the context of syndromes

A combination with other symptoms that do not affect the skin is called a syndromic form and can be found in:

Clinical manifestations

Clinical criteria are:

  • Onset of illness in the first days of life
  • Not reddened, loose skin flakes, later painful, preferred on the trunk, extremities and neck
  • Skin folds, palms and soles are left out
  • Dandruff decrease with age

Maldescensus testis, corneal opacity, and attention deficit hyperactivity disorder can also occur.

diagnosis

A diagnosis can be made in the womb because the mother's estriol level is reduced. After the birth, the diagnosis can be confirmed by serum protein electrophoresis, measuring the SPS activity in fibroblasts or leukocytes.

Differential diagnosis

The following are to be distinguished:

history

One year after the first description, H. Orel published on the inheritance of congenital ichthyoses.

literature

  • M. Schmuth, V. Martinz, AR Janecke, C. Fauth, A. Schossig, J. Zschocke, R. Gruber: Inherited ichthyoses / generalized Mendelian disorders of cornification. In: European journal of human genetics: EJHG. Vol. 21, No. 2, February 2013, pp. 123-133, doi: 10.1038 / ejhg.2012.121 , PMID 22739337 , PMC 3548255 (free full text) (review).

Individual evidence

  1. ↑ a b c d e Ichthyosis, X-linked recessive. In: Orphanet (Rare Disease Database).
  2. ↑ Encyclopedia Dermatology
  3. ↑ K. Csorsz: Ichthyosis (X-linked). In: Monthly Accident Healing Medicine, Vol. 2, p. 180, 1928
  4. ↑ RS Wells, CB Kerr: Genetic classification of ichthyosis. In: Archives of dermatology. Vol. 92, No. 1, July 1965, pp. 1-6, PMID 11850936 (review).
  5. ↑ Ichthyosis, X-linked.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Ichthyosis, syndromic X-linked. In: Orphanet (Rare Disease Database).
  8. ↑ H. Orel: The inheritance of the ichthyosis congenita and the ichthyosis vulgaris. In: Zeitschrift für Kinderheilkunde Vol. 47, 1929, pp. M312-340

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