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Deficiency of steryl-sulfatase(SSDD)

MedGen UID:
403441
•Concept ID:
C2717836
•
Disease or Syndrome
Synonym: Steroid Sulfatase Deficiency Disease
SNOMED CT: Steryl-sulfate sulfohydrolase deficiency (3642008); Arylsulfatase C deficiency (3642008); Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2) (3642008); Deficiency of steryl-sulfatase (3642008)
 
OMIM®: 308100

Professional guidelines

PubMed

Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.
Hu H, Huang Y, Hou R, Xu H, Liu Y, Liao X, Xu J, Jiang L, Wang D
BMC Med Genomics 2023 Apr 3;16(1):69. doi: 10.1186/s12920-023-01493-z. PMID: 37013593Free PMC Article
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
Characterising heart rhythm abnormalities associated with Xp22.31 deletion.
Wren G, Baker E, Underwood J, Humby T, Thompson A, Kirov G, Escott-Price V, Davies W
J Med Genet 2023 Jul;60(7):636-643. Epub 2022 Nov 15 doi: 10.1136/jmg-2022-108862. PMID: 36379544Free 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
Corneal dystrophies.
Klintworth GK
Orphanet J Rare Dis 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. PMID: 19236704Free PMC Article
Genetic skin diseases.
Francis JS
Curr Opin Pediatr 1994 Aug;6(4):447-53. doi: 10.1097/00008480-199408000-00016. PMID: 7951667

Diagnosis

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
Types of congenital nonsyndromic ichthyoses.
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
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

Therapy

Steroid sulfatase inhibitors: the current landscape.
Anbar HS, Isa Z, Elounais JJ, Jameel MA, Zib JH, Samer AM, Jawad AF, El-Gamal MI
Expert Opin Ther Pat 2021 Jun;31(6):453-472. Epub 2021 Apr 19 doi: 10.1080/13543776.2021.1910237. PMID: 33783295
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
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

Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.
Hu H, Huang Y, Hou R, Xu H, Liu Y, Liao X, Xu J, Jiang L, Wang D
BMC Med Genomics 2023 Apr 3;16(1):69. doi: 10.1186/s12920-023-01493-z. PMID: 37013593Free PMC Article
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
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC
J Inherit Metab Dis 2020 Nov;43(6):1298-1309. Epub 2020 Aug 20 doi: 10.1002/jimd.12298. PMID: 32749716Free 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

Clinical prediction guides

Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study.
Lan X, Qiao R, Sun J, Song H, Gao M, Mo R, Song Z, Yang Y, Jiang Y
J Dermatol 2024 Feb;51(2):253-260. Epub 2023 Dec 12 doi: 10.1111/1346-8138.17026. PMID: 38087855
Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.
Hu H, Huang Y, Hou R, Xu H, Liu Y, Liao X, Xu J, Jiang L, Wang D
BMC Med Genomics 2023 Apr 3;16(1):69. doi: 10.1186/s12920-023-01493-z. PMID: 37013593Free PMC Article
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
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC
J Inherit Metab Dis 2020 Nov;43(6):1298-1309. Epub 2020 Aug 20 doi: 10.1002/jimd.12298. PMID: 32749716Free 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

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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