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X-Linked Ichthyosis

X-linked ichthyosis is an X-linked disorder caused due to the deficiency of the enzyme - steroid sulfatase, which leads to the build-up of cholesterol sulfate in the skin. This causes the skin cells to attach to each other more strongly than usual with reduced exfoliation and building up of the skin cells in clumps which give rise to the scales-like appearance of the skin.


Presentation

X-linked ichthyosis (XLI) is an inherited disorder caused by the deficiency of the steroid sulfatase (STS) enzyme which maintains the integrity of the skin. Deficiency of this enzyme leads to accumulation of cholesterol sulfate in the cutaneous cells which adhere to each other strongly and do not exfoliate. Instead, they clump together leading to the classical appearance of scaly skin. Although this condition is more commonly seen amongst men (X-linked), a few cases in heterozygous females (carriers) with corneal opacities has also been reported [1].

Typically XLI starts at birth [2] or in the neonatal period with some atypical cases presenting either later [3] in childhood or with fewer phenotypic features. Classically the infant has scales on the posterior aspect of the neck, trunk, extensor aspects of the limbs [4] and scalp. With the progression of the disease in childhood, prominent scalp scaling extending to the preauricular region, posterior neck and involving the flexural aspects of the limbs is noted. Usually, the palms and the soles are unaffected.The scales are adherent, brown, polygonal and described as "dirty". They are more prominent in winter and cold weather and may present initially as erythroderma [5]. Hair and nails are normal in patients with XLI. Corneal opacities have been reported in affected males [1] as well as a late manifestation in heterozygous carriers [6]. Cryptorchidism and testicular cancer cases have also been reported [7] [8] in XLI patients.

Atypical presentations with milder phenotypic manifestations like dermatitis [9] or lower limb scaling alone [10] can also occur. Rarer clinical features include hypertrophic pyloric stenosis [11] [12], short stature, and mental retardation.

Onset in Infancy
  • The disease has an onset in infancy and can be disfiguring.[doi.org]

Workup

Diagnosis of XLI is based on the appearance of the classical scaly pattern of the skin in affected individuals. A complete family history and physical examination are important before proceeding with confirmatory tests. Slit-lamp examination in affected adult males and heterozygous females [6] [13] is likely to show comma-shaped corneal opacities in the posterior capsule and corneal stroma [14] [15].

Diagnosis of XLI can be confirmed postnatally with genetic analysis of STS activity assays of placental cells, cutaneous fibroblasts, keratinocytes, or lymphocytes. Biochemical testing will confirm the deficiency of arylsulfatase C. Antenatally, XLI can be diagnosed with fluorescence in situ hybridization (FISH) [16]. Genetic diagnosis of homozygotic XLI can be done with Polymerase chain reaction and Southern blot testing while multiplex quantitative fluorescent polymerase chain reaction (PCR), as well as, FISH are required to identify carriers and complete deletions [17].

Although skin samples in mild cases may appear normal on histology, samples obtained from more severe cases show eosinophilic hyperkeratosis, with rete ridges, and a sparse infiltrate of perivascular and periappendageal lymphocytes and histiocytes.

Treatment

  • Treatment included emollients exclusively with partial and temporary remission of cutaneous lesions. Recently, the patient had not received topical or systemic medical treatment. Laboratory investigations were within normal limits.[ncbi.nlm.nih.gov]
  • Management and treatment Treatment consists in hydrating and softening the skin with the use of lubricating bath oils and emollients containing humectants and keratolytics (e. g. urea, lactic acid, and glycolic acid).[orpha.net]
  • We report the clinical characteristics, molecular causes and treatment outcome of two Chinese brothers with KS and X-linked ichthyosis.[ncbi.nlm.nih.gov]
  • One of the aims of treatment is to reduce scaling by removing the excess, flaky scales, and keep the skin hydrated. This can be achieved using a variety of topical creams.[en.wikipedia.org]
  • Effective management of his ichthyosis included treatment with 6% salicylic acid gel under plastic occlusion and removal of the scales by scrubbing.[ncbi.nlm.nih.gov]

Prognosis

  • (Outcomes/Resolutions) The prognosis of X-Linked Recessive Ichthyosis depends on the severity of the signs and symptoms Severe congenital cases have poor prognosis, while mild, acquired cases have a much better prognosis Additional and Relevant Useful[dovemed.com]
  • Prognosis RXLI represents a benign form of ichthyosis. The ichthyosis is life-long but hyperkeratosis and scaling may improve with age. Life expectancy is normal. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Although it is rare, affecting approximately 1/50 000–150 000 boys and men, it deserves to be known as an earlier diagnosis may optimize the care of patient, improve the prognosis of the disease and give genetic counselling to the family.[abstracts.eurospe.org]

Etiology

  • RXLI represents one of the best understood diseases in dermatology--from the gene to the SC interstices, its etiology and pathogenesis are becoming clear, and assessment of disease mechanisms in RXLI led to new insights about the role of SSase and CSO4[ncbi.nlm.nih.gov]
  • Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003;4: 81-95. Zettersen, E, Man, MQ, Sato, J, et al. Recessive x-linked ichthyosis: role of cholesterol sulfate accumulation in the barrier abnormality.[rarediseases.org]
  • Etiology X-linked ichthyosis is an epidermal lipid metabolism anomaly due to inactivating mutations or deletions in the steroid sulfatase STS gene (Xp22.3).[orpha.net]
  • Etiology RLXI is due to mutations in the steroid sulfatase STS gene located on chromosome Xp22.3. STS codes for a lipid hydrolase that participates in the regulation of permeability barrier homeostasis and desquamation.[orpha.net]

Epidemiology

  • Summary Epidemiology RXLI affects almost exclusively males. It is the second most common type of ichthyosis with an estimated prevalence of 1 / 2,000 to 1 / 6,000 males.[orpha.net]
  • Summary Epidemiology The prevalence of syndromic RXLI is estimated at 1/50,000-1/150,000. It affects almost exclusively males. Clinical description Cutaneous manifestations include generalized hyperkeratosis and scaling of the skin.[orpha.net]
  • EPIDEMIOLOGY Recessive XLI is the second most frequent ichthyosis after ichthyosis vulgaris. It is reported worldwide in all ethnic groups and affects almost exclusively males. XLI incidence ranges from 1 in 1300 to 1 in 9000 male births [ 2-5 ].[uptodate.com]
  • Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups.[wjgnet.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure.[ncbi.nlm.nih.gov]

Prevention

  • .), an unrestricted grant from Research to Prevent Blindness, and a grant from the Gerald Oppenheimer Family Foundation Center for the Prevention of Eye Disease (A.J.A.). The authors have no conflicts of interest to disclose.[journals.lww.com]
  • This can help prevent complications such as skin infections (that may occur frequently otherwise) The prognosis of X-Linked Recessive Ichthyosis depends on the severity of the signs and symptoms.[dovemed.com]
  • Your childbirth will need to be closely monitored to prevent unnecessary damage to your child. X-linked Ichthyosis leaflet[ichthyosis.org.uk]
  • ;Dexamethasone 28 Phase 3 Study to Treat Patients With Soft Tissue Sarcomas Completed NCT02049905 Phase 3 Aldoxorubicin;Investigator's Choice Treatment (Darcabazine, Pazopanib, Gemcitabine Docetaxel, Doxorubicin, Ifosfamide) 29 Sodium Thiosulfate in Preventing[malacards.org]
  • Be the first video Your name here Important information Legal Disclaimer Statements regarding dietary supplements have not been evaluated by the FDA and are not intended to diagnose, treat, cure, or prevent any disease or health condition.[amazon.com]

References

Article

  1. Sever RJ, Frost P, Weinstein G. Eye changes in ichthyosis. JAMA. 1968; 206: 2283-2286.
  2. Wells RS, Jennings MC. X-linked ichthyosis and ichthyosis vulgaris: clinical and genetic distinctions in a second series of families. JAMA. 1967; 202: 485-488.
  3. Went LN, DeGroot WP, Sanger R, et al. X-linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred. Ann. Hum. Genet. 1969;32: 333-346.
  4. Fernandes NF, Janniger CK, Schwartz RA. X-linked ichthyosis: an oculocutaneous genodermatosis. J Am Acad Dermatol. 2010 Mar. 62(3):480-5.
  5. Das A, Mishra V, Shome K, Sen A. X-linked Ichthyosis Presenting as Erythroderma: A Rare Case. Indian J Dermatol. 2015 Sep-Oct; 60 (5):491-3.
  6. Jay B, Blach RK, Wells RS. Ocular manifestations of ichthyosis. Brit. J. Ophthal. 1968;52: 217-226.
  7. Traupe H, Happle R. Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications, and cryptorchidism. Europ. J. Pediat. 1983;140: 19-21.
  8. Lykkesfeldt G, Hoyer H, Lykkesfeldt AE, et al. Steroid sulphatase deficiency associated with testis cancer. Lancet 1983; 322: 1456. Note: Originally Volume II.
  9. Hand JL, Runke CK, Hodge JC. The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray. J Am Acad Dermatol. 2015 Apr. 72 (4):617-27.
  10. Gonzalez-Huerta L, Mendiola-Jimenez J, Del Moral-Stevenel M, et al. Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene. Int J Dermatol. 2009 Feb; 48(2):142-4.
  11. Garcia-Perez A, Crespo M. X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. Clin. Exp. Derm. 1981;6: 159-161.
  12. Stoll C, Grosshans E, Binder P, Roth M. Hypertrophic pyloric stenosis associated with X-linked ichthyosis in two brothers. Clin. Exp. Derm. 1983;8: 61-64.
  13. Kempster RC, Hirst LW, de la Cruz Z, Green WR. Clinicopathologic study of the cornea in X-linked ichthyosis. Arch Ophthalmol. 1997 Mar. 115(3):409-15.
  14. Haritoglou C, Ugele B, Kenyon KR, Kampik A. Corneal manifestations of X-linked ichthyosis in two brothers. Cornea. 2000 Nov; 19(6):861-3.
  15. Ingordo V, D'Andria G, Gentile C, et al. Frequency of X-linked ichthyosis in coastal southern Italy: a study on a representative sample of a young male population. Dermatology. 2003; 207(2):148-50.
  16. Zhu HY, Li HB, Wu LQ, et al. [Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family]. Zhonghua Yi Xue Za Zhi. 2008 Dec 16; 88(46):3246-9.
  17. Aviram-Goldring A, Goldman B, Netanelov-Shapira I, et al. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol. 2000 Mar, 39(3):182-7.

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Last updated: 2019-07-11 21:15