U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
 
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.
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).
Palmar hyperlinearity
MedGen UID:
400466
Concept ID:
C1864168
Finding
Exaggerated skin markings (dermatoglyphics) on the palms of the hand.
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.
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.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
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.
Congenital ichthyosiform erythroderma
MedGen UID:
86936
Concept ID:
C0079583
Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

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

Mahmood Alsabbagh M
Fetal Pediatr Pathol 2024 Mar-Apr;43(2):157-175. Epub 2024 Jan 10 doi: 10.1080/15513815.2023.2301468. PMID: 38204144
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Cuevas-Covarrubias SA, Valdés-Flores M, Orozco Orozco E, Díaz-Zagoya JC, Kofman-Alfaro SH
J Dermatol 1998 Aug;25(8):556-7. doi: 10.1111/j.1346-8138.1998.tb02456.x. PMID: 9769606

Recent clinical studies

Etiology

Pinkova B, Buckova H, Borska R, Fajkusova L
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2020 Dec;164(4):357-365. Epub 2020 Oct 21 doi: 10.5507/bp.2020.050. PMID: 33087941
Süßmuth K, Gruber R, Rodriguez E, Traupe H, Amler S, Sánchez-Guijo A, Valentin F, Tarinski T, Straub N, Metze D, Schneider SW, Hausser I, Baurecht H, Weidinger S, Oji V
J Invest Dermatol 2018 Mar;138(3):709-711. Epub 2017 Oct 17 doi: 10.1016/j.jid.2017.08.047. PMID: 29054605
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Kerr CB
Bibl Haematol 1968;29:59-70. doi: 10.1159/000384594. PMID: 5303926

Diagnosis

Pinkova B, Buckova H, Borska R, Fajkusova L
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2020 Dec;164(4):357-365. Epub 2020 Oct 21 doi: 10.5507/bp.2020.050. PMID: 33087941
Fischer J, Bourrat E
Acta Derm Venereol 2020 Mar 25;100(7):adv00096. doi: 10.2340/00015555-3432. PMID: 32147747Free PMC Article
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Shwayder T, Ott F
Pediatr Clin North Am 1991 Aug;38(4):835-57. doi: 10.1016/s0031-3955(16)38156-1. PMID: 1870908
Shapiro LJ
Int J Dermatol 1981 Jan-Feb;20(1):26-31. doi: 10.1111/j.1365-4362.1981.tb05280.x. PMID: 7009454

Therapy

Teng JMC, Bunick CG, Guenthner S, Murrell DF, Marathe K, Kempers S, Eads K, Mendelsohn AM, Raiz J, Tavakkol A, Castelo-Soccio L
J Am Acad Dermatol 2022 Dec;87(6):1455-1458. Epub 2022 Jul 21 doi: 10.1016/j.jaad.2022.07.028. PMID: 35872261
Paller AS, Browning J, Parish LC, Bunick CG, Rome Z, Bhatia N
J Am Acad Dermatol 2022 Nov;87(5):1189-1191. Epub 2022 Mar 7 doi: 10.1016/j.jaad.2022.02.060. PMID: 35271936
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
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
Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, Shenoy S
Blood 2007 Jan 1;109(1):383-5. Epub 2006 Sep 21 doi: 10.1182/blood-2006-05-025072. PMID: 16990602

Prognosis

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
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Singalavanija S, Sangtawesin V, Horpoapan S, Ratrisawadi V
J Med Assoc Thai 1998 May;81(5):365-70. PMID: 9623037
Meyer JC, Gilardi S, Schneider H, Mieth D, Schnyder UW
G Ital Dermatol Venereol 1987 Jun;122(6):285-8. PMID: 3623622

Clinical prediction guides

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
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
Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P
Am J Med Genet 1991 Nov 1;41(2):184-7. doi: 10.1002/ajmg.1320410210. PMID: 1785631
Meyer JC, Gilardi S, Schneider H, Mieth D, Schnyder UW
G Ital Dermatol Venereol 1987 Jun;122(6):285-8. PMID: 3623622
Jöbsis AC, De Groot WP, Tigges AJ, De Bruijn HW, Rijken Y, Meijer AE, Marinkovic-Ilsen A
Am J Pathol 1980 May;99(2):279-89. PMID: 6929654Free PMC Article

Recent systematic reviews

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...