Ichthyosis x-linked recessive Q80.1

Authors: Prof. Dr. med. Peter Altmeyer, Prof. Dr. med. Martina Bacharach-Buhles

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Last updated on: 17.03.2024

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Synonym(s)

Ichthyosis sauroderma; Ichthyosis serpentina; ichthyosis vulgaris; Recessive ichthyosis vulgaris; Sexually transmitted ichthyosis vulgaris; Steroid sulfatase deficiency; Type Wells-Kerr; Wells-Kerr-Ichthyosis; Xerodermia; X-linked ichthyosis; XRI

History
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Csorsz, 1928; Orel, 1929; Kerr and Wells, 1965

Definition
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X-linked recessive ichthyosis due to mutation in the steroid sulfatase gene (almost exclusively affecting the male sex). Rarely collodion skin at birth. Disease symptomatology is often present at birth or breaks out in the first months of life. The course is progressive until puberty and then remains stationary.

Occurrence/Epidemiology
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Worldwide & panethnic distribution. Incidence: 1/2000-6,000 male births. Prevalence in the general population is 1:4,000.

Etiopathogenesis
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X-linked recessive mutations of the steroid sulfatase gene(STS gene; gene locus: Xp22.3). The genetic defect is 90% a deletion of the STS gene. This leads to a deficiency of microsomal steroid sulfatase, an enzyme that removes sulfate residues, including cholesterol sulfate and dehydroepinandrosterone. This leads to an increase in cholesterol sulphate, e.g. in keratinocytes, fibroblasts and leukocytes. The gene mutation can also extend to neighboring genes, which can lead to more complex disease associations.

X-linked ichthyosis is frequently associated with atopic diseases(bronchial asthma, allergic rhinitis, allergic conjunctivitis, atopic dermatitis). The investigations revealed a microdeletion of the steroid sulphatase region (Xp22.3), an increased total IgE value and polysensitization. It appears that steroid sulfatase deficiency in ichthyosis plays a role in the development of atopic diseases (Harangi F et al. 2000).

Manifestation
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Occurring from birth or in infancy. The disease occurs only in the male sex. Females (two X chromosomes), errors in the genetic material on one X chromosome can be masked by the error-free genetic material on the other X chromosome. They do not fall ill, but can transmit the disease to male offspring.

Localization
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Mainly extensor sides of the extremities, lower trunk, bends, abdomen. Frequently on ears, neck, capillitium. Armpits and elbows are usually free, knees not.

Clinical features
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Onset in infancy with relatively light-colored scaling, initially on the lower legs. Compared to autosomal dominant ichthyosis vulgaris, the scaling is more pronounced, the skin scales themselves are larger and relatively firm. With increasing age, the scaling becomes darker, more adherent and is later dirty gray, thick and coarse-fielded, rhombic. As with the autosomal dominant form, the large body flexion creases are usually omitted. The palms of the hands and soles of the feet show no increased line pattern. Comma-shaped, deep-seated corneal opacities are common. The accumulation of birth complications is also striking. Furthermore, around one in five of those affected have undescended testicles (cryptorchidism).

X-linked ichthyosis is often associated with atopic diseases(bronchial asthma, allergic rhinitis, allergic conjunctivitis, atopic dermatitis). The investigations revealed a microdeletion of the steroid sulphatase region (Xp22.3), an increased total IgE value and polysensitization. It appears that steroid sulfatase deficiency in ichthyosis plays a role in the development of atopic diseases (Harangi F et al. 2000).

Laboratory
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The activity of the enzyme steroid sulfatase can be determined by a blood test, making this ichthyosis the only one to date that can be reliably detected by a simple blood sample.

Increase of cholesterol sulfate (approx. 10 times normal value) in blood cells and serum. Cholesterol in serum is decreased up to 50%.

Lipoprotein electrophoresis: Increased mobility of HDL and VLDL.

Histology
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Retention hyperkeratosis with preserved, slightly widened stratum granulosum, distinct papillomatosis, 10-fold thickened interfollicular orthohyperkeratotic stratum corneum.

Electron microscopy: decreased number of keratinosomes.

Diagnosis
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Arylsulfatase C deficiency in epidermis, fibroblasts, leucocytes. Prenatal diagnosis if the family history is positive.

External therapy
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Symptomatic therapy with greasing, nourishing, keratolytic and hydrating external agents such as 5-10% urea, 10% lactic acid and 0.01-0.05% tretinoin. S.a.u. Ichthyosis vulgaris. Combined preparations of 10% urea and 0.05% tretinoin have proven particularly effective. Externally applied preparations with 3-5% salicylic acid have proved to be particularly effective in hyperkeratotic areas. S.a.u. Ichthyosis vulgaris, autosomal dominant.

Internal therapy
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Systemic therapy with acitretin (neotigason) should be considered in severe cases:
  • Adults: Initial 10-35 mg/day for 4 weeks, lowest possible maintenance dose after clinic (10-50 mg/day)
  • In children, acitretin therapy only under strict consideration of benefit and risk: initial 0.5 mg/kg bw/day, maintenance dose: 0.1-0.2 mg/kg bw/day.

Progression/forecast
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The tendency to improve in the course of life is low.

Note(s)
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Ichthyosis-X can occur in conjunction with other X-linked symptoms. S.a.u. Kallmann syndrome; see Refsum syndrome below.

Literature
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  1. Afzal S et al. (2020) A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients. BMC Med Genet 21:20.
  2. Basler E, Grompe M, Parenti G et al. (1992) Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet 50: 483-491
  3. Bruno L et al. (2003) Recessive X-linked ichthyosis associated with hypertrophic pyloric stenosis: a chance occurrence? Clin Exp Dermatol 28: 74-76
  4. Csorsz K (1928) Ichthyosis (X-linked). Mschr Unfallheilk Med 2: 180
  5. DiGiovanna JJ et al (2003) Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol 4: 81-95
  6. Harangi F et al. (2000) Occurrence of X-linked ichthyosis along with atopy. Orv Hetil 141:1301-1303.
  7. Hernandez-Martin A et al. (1999) X-linked ichthyosis: an update. Br J Dermatol 141: 617-627
  8. Hernández-Martín A et al. (2010) X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient. Dermatology 221:113-116.
  9. Ingordo V et al. (2003) Frequency of X-linked ichthyosis in coastal southern Italy: a study on a representative sample of a young male population. Dermatology 207: 148-150
  10. Kallmann FJ, Schönfeld WA, Barrera SE (1943) The genetic aspects of primary eunuchoidism. Am J Mental Deficiency 48: 203-236
  11. Lesca G et al. (2005) Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. Clin Genet 67: 367-368
  12. Maya-Nunez G et al. (1999) An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis. Clin Endocrinol (Oxf) 50:157-162
  13. Orel H (1929) The inheritance of ichthyosis congenita and ichthyosis vulgaris. Z Kinderheilk 47: 312-340
  14. Shapiro L (1981) X-linked ichthyosis. Int J Dermatol 20: 26-31
  15. Shwayder T (2004) Disorders of keratinization: diagnosis and management. Am J Clin Dermatol 5: 17-29
  16. Wells RS, Kerr CB (1965) Genetic classification of ichthyosis. Arch Dermatol 92: 1-6
  17. Wells RS, Kerr CB (1966) Clinical features of autosomal dominant and sex linked ichthyosis in an English population. Br J Med 1: 947-950

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