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X-linked ichthyosis with steryl-sulfatase deficiency(XLI)

MedGen UID:
86937
•Concept ID:
C0079588
•
Disease or Syndrome
Synonyms: Ichthyosis, X-Linked; Placental steroid sulfatase deficiency; Recessive X-linked ichthyosis; Steroid sulfatase deficiency; Steroid sulfatase deficiency disease; STS DEFICIENCY; XLI
SNOMED CT: Sex-linked ichthyosis (72523005); X-linked ichthyosis (72523005); X-linked ichthyosis with steryl-sulfatase deficiency (72523005)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Gene (location): STS (Xp22.31)
 
Monarch Initiative: MONDO:0010622
OMIM®: 308100
Orphanet: ORPHA461

Definition

X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. Schnyder (1970) gave a useful classification of the inherited ichthyoses. Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients. Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis. [from OMIM]

Clinical features

From HPO
Testicular neoplasm
MedGen UID:
52675
•Concept ID:
C0039590
•
Neoplastic Process
The presence of a neoplasm of the testis.
See: Feature record | Search on this feature
Cryptorchidism
MedGen UID:
8192
•Concept ID:
C0010417
•
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
See: Feature record | Search on this feature
Palmar hyperlinearity
MedGen UID:
400466
•Concept ID:
C1864168
•
Finding
Exaggerated skin markings (dermatoglyphics) on the palms of the hand.
See: Feature record | Search on this feature
Palmoplantar keratoderma
MedGen UID:
1635750
•Concept ID:
C4551675
•
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Hypohidrosis
MedGen UID:
43796
•Concept ID:
C0020620
•
Disease or Syndrome
Abnormally diminished capacity to sweat.
See: Feature record | Search on this feature
Ichthyosis
MedGen UID:
7002
•Concept ID:
C0020757
•
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
See: Feature record | Search on this feature
Congenital ichthyosiform erythroderma
MedGen UID:
86936
•Concept ID:
C0079583
•
Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
See: Feature record | Search on this feature
Opacification of the corneal stroma
MedGen UID:
602191
•Concept ID:
C0423250
•
Finding
Reduced transparency of the stroma of cornea.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked ichthyosis with steryl-sulfatase deficiency
Follow this link to review classifications for X-linked ichthyosis with steryl-sulfatase deficiency in Orphanet.

Professional guidelines

PubMed

Ichthyosis: clinical manifestations and practical treatment options.
Oji V, Traupe H
Am J Clin Dermatol 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. PMID: 19824737
Ichthyoses: differential diagnosis and molecular genetics.
Oji V, Traupe H
Eur J Dermatol 2006 Jul-Aug;16(4):349-59. PMID: 16935789
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Recent clinical studies

Etiology

X-linked genodermatoses from diagnosis to tailored therapy.
Medori MC, Gisondi P, Bellinato F, Bonetti G, Micheletti C, Donato K, Dhuli K, Ergoren MC, Cristofoli F, Cecchin S, Marceddu G, Bertelli M
Clin Ter 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493. PMID: 37994770
X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.
Zhang M, Huang H, Lin N, He S, An G, Wang Y, Chen M, Chen L, Lin Y, Xu L
J Clin Lab Anal 2020 May;34(5):e23201. Epub 2020 Jan 16 doi: 10.1002/jcla.23201. PMID: 31944387Free PMC Article
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Pathogenesis-based therapies in ichthyoses.
Lai-Cheong JE, Elias PM, Paller AS
Dermatol Ther 2013 Jan-Feb;26(1):46-54. doi: 10.1111/j.1529-8019.2012.01528.x. PMID: 23384020Free PMC Article
Corneal dystrophies.
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article

Diagnosis

Inherited ichthyosis: Syndromic forms.
Yoneda K
J Dermatol 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. PMID: 26945533
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Corneal dystrophies.
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
X-linked ichthyosis: an update.
Hernández-Martín A, González-Sarmiento R, De Unamuno P
Br J Dermatol 1999 Oct;141(4):617-27. doi: 10.1046/j.1365-2133.1999.03098.x. PMID: 10583107
X-linked ichthyosis.
Shapiro LJ
Int J Dermatol 1981 Jan-Feb;20(1):26-31. doi: 10.1111/j.1365-4362.1981.tb05280.x. PMID: 7009454

Therapy

Pathogenesis-based therapies in ichthyoses.
Lai-Cheong JE, Elias PM, Paller AS
Dermatol Ther 2013 Jan-Feb;26(1):46-54. doi: 10.1111/j.1529-8019.2012.01528.x. PMID: 23384020Free PMC Article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
Mégarbané H, Mégarbané A
Orphanet J Rare Dis 2011 May 21;6:29. doi: 10.1186/1750-1172-6-29. PMID: 21600032Free PMC Article
X-linked ichthyosis: an oculocutaneous genodermatosis.
Fernandes NF, Janniger CK, Schwartz RA
J Am Acad Dermatol 2010 Mar;62(3):480-5. Epub 2010 Jan 18 doi: 10.1016/j.jaad.2009.04.028. PMID: 20080321
Managing ichthyosis: a case study.
Fleck CA
Ostomy Wound Manage 2006 Apr;52(4):82-6, 88, 90, passim. PMID: 16636365
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Prognosis

Sulfotransferase 2B1b, Sterol Sulfonation, and Disease.
Cook I, Leyh TS
Pharmacol Rev 2023 May;75(3):521-531. Epub 2022 Dec 22 doi: 10.1124/pharmrev.122.000679. PMID: 36549865Free PMC Article
Corneal dystrophies.
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
New aspects of the skin barrier organization.
Bouwstra J, Pilgram G, Gooris G, Koerten H, Ponec M
Skin Pharmacol Appl Skin Physiol 2001;14 Suppl 1:52-62. doi: 10.1159/000056391. PMID: 11509908
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Clinical prediction guides

Sulfotransferase 2B1b, Sterol Sulfonation, and Disease.
Cook I, Leyh TS
Pharmacol Rev 2023 May;75(3):521-531. Epub 2022 Dec 22 doi: 10.1124/pharmrev.122.000679. PMID: 36549865Free PMC Article
X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion.
Myers KA, Simard-Tremblay E, Saint-Martin C
Pediatr Neurol 2020 Jul;108:113-116. Epub 2020 Apr 13 doi: 10.1016/j.pediatrneurol.2020.02.008. PMID: 32299744
X-linked ichthyosis: an oculocutaneous genodermatosis.
Fernandes NF, Janniger CK, Schwartz RA
J Am Acad Dermatol 2010 Mar;62(3):480-5. Epub 2010 Jan 18 doi: 10.1016/j.jaad.2009.04.028. PMID: 20080321
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442
Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.
Traupe H, Happle R
Eur J Pediatr 1983 Mar;140(1):19-21. doi: 10.1007/BF00661898. PMID: 6135610

Recent systematic reviews

A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris.
Hernández-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I
J Am Acad Dermatol 2013 Oct;69(4):544-549.e8. Epub 2013 Jul 16 doi: 10.1016/j.jaad.2013.05.017. PMID: 23870202

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