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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; Steroid sulfatase deficiency; Steroid sulfatase deficiency disease; STS DEFICIENCY; XLI
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, 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.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
X-linked dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Sex-linked ichthyosis (72523005); X-linked ichthyosis (72523005); X-linked ichthyosis with steryl-sulfatase deficiency (72523005)
 
Gene (location): STS (Xp22.31)
OMIM®: 308100
Orphanet: ORPHA281210

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

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).
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe.
Neoplasm
MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.
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.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

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.

Recent clinical studies

Etiology

Chatterjee S, Humby T, Davies W
PLoS One 2016;11(10):e0164417. Epub 2016 Oct 6 doi: 10.1371/journal.pone.0164417. PMID: 27711218Free PMC Article
Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH
J Korean Med Sci 2016 Aug;31(8):1307-18. Epub 2016 May 20 doi: 10.3346/jkms.2016.31.8.1307. PMID: 27478344Free PMC Article
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Hand JL, Runke CK, Hodge JC
J Am Acad Dermatol 2015 Apr;72(4):617-27. Epub 2015 Feb 7 doi: 10.1016/j.jaad.2014.12.020. PMID: 25659225
Cuevas-Covarrubias SA, González-Huerta LM
Br J Dermatol 2008 Mar;158(3):483-6. Epub 2007 Dec 11 doi: 10.1111/j.1365-2133.2007.08373.x. PMID: 18076704

Diagnosis

Shi H, Qi XF, Liu TT, Hao Q, Li XH, Liang LL, Wang YM, Cui ZH
BMC Ophthalmol 2017 Mar 16;17(1):29. doi: 10.1186/s12886-017-0423-5. PMID: 28302098Free PMC Article
Chatterjee S, Humby T, Davies W
PLoS One 2016;11(10):e0164417. Epub 2016 Oct 6 doi: 10.1371/journal.pone.0164417. PMID: 27711218Free PMC Article
Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH
J Korean Med Sci 2016 Aug;31(8):1307-18. Epub 2016 May 20 doi: 10.3346/jkms.2016.31.8.1307. PMID: 27478344Free PMC Article
Bai J, Qu Y, Cao Y, Li Y, Zhang W, Jin Y, Wang H, Song F
Mol Med Rep 2016 Feb;13(2):1135-40. Epub 2015 Dec 10 doi: 10.3892/mmr.2015.4674. PMID: 26676689Free PMC Article
Hand JL, Runke CK, Hodge JC
J Am Acad Dermatol 2015 Apr;72(4):617-27. Epub 2015 Feb 7 doi: 10.1016/j.jaad.2014.12.020. PMID: 25659225

Therapy

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
Elias PM, Williams ML, Feingold KR
Clin Dermatol 2012 May-Jun;30(3):311-22. doi: 10.1016/j.clindermatol.2011.08.017. PMID: 22507046Free PMC Article
Hoppe T, Winge MC, Bradley M, Nordenskjöld M, Vahlquist A, Berne B, Törmä H
Br J Dermatol 2012 Sep;167(3):514-22. Epub 2012 Aug 10 doi: 10.1111/j.1365-2133.2012.10979.x. PMID: 22486194
Ramesh R, Chen H, Kukula A, Wakeling EL, Rustin MH, McLean WH
J Dermatol Sci 2011 Dec;64(3):159-62. Epub 2011 Aug 27 doi: 10.1016/j.jdermsci.2011.07.006. PMID: 21945601
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

Prognosis

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
Oyama N, Satoh M, Iwatsuki K, Kaneko F
J Invest Dermatol 2000 Jun;114(6):1195-9. doi: 10.1046/j.1523-1747.2000.00004.x. PMID: 10844566
Delfino M, Procaccini EM, Illiano GM, Milone A
Br J Dermatol 1998 Apr;138(4):655-7. PMID: 9640374
Morita E, Katoh O, Shinoda S, Hiragun T, Tanaka T, Kameyoshi Y, Yamamoto S
J Invest Dermatol 1997 Aug;109(2):244-5. PMID: 9242515
Cuevas-Covarrubias SA, Kofman-Alfaro SH, Palencia AB, Díaz-Zagoya JC
J Dermatol 1996 Sep;23(9):594-7. PMID: 8916657

Clinical prediction guides

Shi H, Qi XF, Liu TT, Hao Q, Li XH, Liang LL, Wang YM, Cui ZH
BMC Ophthalmol 2017 Mar 16;17(1):29. doi: 10.1186/s12886-017-0423-5. PMID: 28302098Free PMC Article
Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH
J Korean Med Sci 2016 Aug;31(8):1307-18. Epub 2016 May 20 doi: 10.3346/jkms.2016.31.8.1307. PMID: 27478344Free PMC Article
Song Y, Chen J, Yi Z, Dang X, Cheng D, Wu X, Tan Y
Mol Med Rep 2013 Oct;8(4):1183-7. Epub 2013 Aug 12 doi: 10.3892/mmr.2013.1625. PMID: 23939749
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
Cuevas-Covarrubias SA, González-Huerta LM
Br J Dermatol 2008 Mar;158(3):483-6. Epub 2007 Dec 11 doi: 10.1111/j.1365-2133.2007.08373.x. PMID: 18076704

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
Cuevas-Covarrubias SA, González-Huerta LM
Br J Dermatol 2008 Mar;158(3):483-6. Epub 2007 Dec 11 doi: 10.1111/j.1365-2133.2007.08373.x. PMID: 18076704

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