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: 30.01.2022

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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

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

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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.

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

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X-linked recessive mutations of the steroid sulfatase gene(STS gene; gene locus: Xp22.3). The gene defect is a deletion of the STS gene in 90%. This leads to a deficiency of microsomal steroid sulfatase, an enzyme that removes sulfate residues from cholesterol sulfate and dehydroepinandrosterone. This leads to an increase of cholesterol sulfate in keratinocytes, fibroblasts and leukocytes. Gene mutation may also extend to adjacent genes, leading to more complex disease associations.

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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.

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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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Beginning in infancy with relatively light scales first on the lower legs. In comparison to the autosomal dominant ichthyosis vulgaris the scaling is stronger, the skin scales themselves are larger and relatively firmly attached. With increasing age, the scaling becomes darker, more adherent and later is dirty grey, thick and coarse-fielded, rhombic. The large body flexor folds are mostly recessed, just like in the autosomal dominant form. The palms of the hands and soles of the feet do not show any increased line drawing. Comma-shaped, deep-seated corneal opacities are frequent. The accumulation of birth complications is also striking. In addition, about one in five patients has an undescended testicle (cryptorchidism).

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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.

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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.

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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.

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

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

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