Research & Literature

X-linked Ichthyosis Presenting as Erythroderma: A Rare Case.

Das A, Mishra V, Shome K, Sen A

Indian journal of dermatology 2015; (60(5)):491-3 doi:10.4103/0019-5154.164372.

Vitamin D: A New Promising Therapy for Congenital Ichthyosis.

Sethuraman G, Marwaha RK, Challa A, et al.

Pediatrics 2016; (137(1)) doi:10.1542/peds.2015-1313.

Ocular manifestations of genetic skin disorders.

Jen M, Nallasamy S

Clinics in dermatology 2016; (34(2)):242-75.

Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency.

Sánchez-Guijo A, Neunzig J, Gerber A, et al.

Molecular and cellular endocrinology 2016; (437()):142-153 doi:10.1016/j.mce.2016.08.019.

[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].

Huang JW, Tang N, Li WG, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2016; (18(11)):1136-1140.

[A Case of Steroid Sulfatase Deficiency Complicated by Bilateral Undescended Testis].

Okusa T, Yamamichi G, Taniguchi A, et al.

Hinyokika kiyo. Acta urologica Japonica 2016; (62(11)):595-597 doi:10.14989/ActaUrolJap_62_11_595.

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.

Shi H, Qi XF, Liu TT, et al.

BMC ophthalmology 2017; (17(1)):29 doi:10.1186/s12886-017-0423-5.

Acitretin : A Review of its Pharmacology and Therapeutic Use.

Pilkington T, Brogden RN

Drugs 1992; (43(4)):597-627 doi:10.2165/00003495-199243040-00010.

Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature.

Baek WS, Aypar U

Case reports in genetics 2017; (2017()):9086408 doi:10.1155/2017/9086408.

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.

Malik A, Amer AB, Salama M, et al.

Journal of medical case reports 2017; (11(1)):267 doi:10.1186/s13256-017-1420-2.

Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

Amasdl S, Smaili W, Natiq A, et al.

Cytogenetic and genome research 2017; (153(2)):66-72 doi:10.1159/000485071.

X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Diociaiuti A, Angioni A, Pisaneschi E, et al.

Experimental dermatology 2019; (28(10)):1156-1163 doi:10.1111/exd.13667.

Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China.

Liang J, Chen P, Chen H, et al.

The Journal of dermatology 2018; (45(8)):1003-1008 doi:10.1111/1346-8138.14462.

Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series.

Rodrigo-Nicolás B, Bueno-Martínez E, Martín-Santiago A, et al.

The British journal of dermatology 2018; (179(4)):933-939 doi:10.1111/bjd.16826.

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

Wang X, Tan L, Shen N, et al.

BMC medical genetics 2018; (19(1)):120 doi:10.1186/s12881-018-0642-5.

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome.

Berges-Raso I, Giménez-Palop O, Gabau E, et al.

Endocrinology, diabetes & metabolism case reports 2017; (2017()).

Placental steroid sulphatase deficiency: an approach to antenatal care and delivery.

Dreyer FE, Abdulrahman GO, Waring G, Hinshaw K

Annals of Saudi medicine 2018; (38(6)):445-449 doi:10.5144/0256.4947.2018.445.

Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis.

Cavenagh A, Chatterjee S, Davies W

PloS one 2019; (14(2)):e0212330 doi:10.1371/journal.pone.0212330.

X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.

Zhang M, Huang H, Lin N, et al.

Journal of clinical laboratory analysis 2020; (34(5)):e23201 doi:10.1002/jcla.23201.

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.

Afzal S, Ramzan K, Ullah S, et al.

BMC medical genetics 2020; (21(1)):20 doi:10.1186/s12881-020-0964-y.

Ichthyoses in everyday practice: management of a rare group of diseases.

Süßmuth K, Traupe H, Metze D, Oji V

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2020; (18(3)):225-243 doi:10.1111/ddg.14049.

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank.

Brcic L, Underwood JF, Kendall KM, et al.

Journal of medical genetics 2020; (57(10)):692-698 doi:10.1136/jmedgenet-2019-106676.

[Ichthyosis vulgaris].

Dorf IL, Sommerlund M, Koppelhus U

Ugeskrift for laeger 2020; (182(17)).

Multimodal Imaging of Pre-Descemet Corneal Dystrophy Associated With X-Linked Ichthyosis and Deletion of the STS Gene.

Boere PM, Bonnet C, Frausto RF, et al.

Cornea 2020; (39(11)):1442-1445 doi:10.1097/ICO.0000000000002382.

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus.

Ma W, Mao J, Wang X, et al.

Frontiers in genetics 2020; (11()):596 doi:10.3389/fgene.2020.00596.

Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis.

Xie W, Zhou H, Zhou L, et al.

The Journal of international medical research 2020; (48(10)):300060520962292 doi:10.1177/0300060520962292.

Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Liu J, Liu Q, Yang S, et al.

Molecular genetics & genomic medicine 2021; (9(8)):e1750 doi:10.1002/mgg3.1750.

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.

Kim MR, Oji V, Valentin F, et al.

Acta dermato-venereologica 2021; (101(9)):adv00546 doi:10.2340/00015555-3887.

ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications.

Cannon Homaei S, Barone H, Kleppe R, et al.

Neuroscience and biobehavioral reviews 2022; (132()):838-856 doi:10.1016/j.neubiorev.2021.11.012.

Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.

Liu S, Li L, Wu H, et al.

Molecular genetics & genomic medicine 2022; (10(1)):e1844 doi:10.1002/mgg3.1844.

How to Manage Low Estriol Levels in Pregnancies, One Center Experience.

Yilmaz Gulec E, Gezdirici A, Ayaz A, et al.

Medeniyet medical journal 2022; (37(1)):62-70 doi:10.4274/MMJ.galenos.2022.22747.

[Early warning of low maternal unconjugated estriol level by prenatal screening for fetus with X-linked ichthyosis].

Liu HY, Li J, Huang DR, et al.

Zhonghua fu chan ke za zhi 2022; (57(6)):407-412 doi:10.3760/cma.j.cn112141-20220125-00043.

Real-world data on the use of secukinumab and acitretin in pediatric generalized pustular psoriasis.

Miao C, Chen Y, Wang Z, et al.

The Journal of dermatology 2023; (50(2)):258-261 doi:10.1111/1346-8138.16551.

Retinoid-induced skeletal hyperostosis in disorders of keratinization.

Doolan BJ, Paolino A, Greenblatt DT, Mellerio JE

Clinical and experimental dermatology 2022; (47(12)):2273-2276 doi:10.1111/ced.15382.

A Case of Ichthyosis Vulgaris and the Use of 70% Glycolic Acid Chemical Peels for Management.

Palmer V, Dunwell P

Cureus 2022; (14(9)):e29334 doi:10.7759/cureus.29334.

Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results.

Kang H, Wang L, Li X, et al.

BMC pregnancy and childbirth 2022; (22(1)):813 doi:10.1186/s12884-022-05139-3.

Characterising heart rhythm abnormalities associated with Xp22.31 deletion.

Wren G, Baker E, Underwood J, et al.

Journal of medical genetics 2023; (60(7)):636-643 doi:10.1136/jmg-2022-108862.

X-linked ichthyosis: New insights into a multi-system disorder.

Wren GH, Davies W

Skin health and disease 2022; (2(4)):e179 doi:10.1002/ski2.179.

Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis.

Williams D, Onyia O, Chung DD, et al.

Molecular vision 2023; (29()):25-30.

RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis.

McGeoghan F, Camera E, Maiellaro M, et al.

Frontiers in molecular biosciences 2023; (10()):1176802 doi:10.3389/fmolb.2023.1176802.

STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.

Park J, Cho YG, Kim JK, Kim HH

Genes 2023; (14(10)) doi:10.3390/genes14101925.

Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan.

Umurzakova A, Ayaganov D, Mannapova A, et al.

Archives of Razi Institute 2023; (78(3)):949-954 doi:10.22092/ARI.2022.360050.2534.

Unraveling the molecular mechanisms of cell migration impairment and apoptosis associated with steroid sulfatase deficiency: Implications for X-linked ichthyosis.

Kwon TU, Kwon YJ, Baek HS, et al.

Biochimica et biophysica acta. Molecular basis of disease 2024; (1870(3)):167004 doi:10.1016/j.bbadis.2023.167004.

Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways.

Wren GH, Davies W

Essays in biochemistry 2024; (68(4)):423-429 doi:10.1042/EBC20230098.

Memory, mood and associated neuroanatomy in individuals with steroid sulphatase deficiency (X-linked ichthyosis).

Wren GH, Flanagan J, Underwood JFG, et al.

Genes, brain, and behavior 2024; (23(3)):e12893 doi:10.1111/gbb.12893.

Revisiting X-linked congenital ichthyosis.

Zhou B, Liang C, Li P, Xiao H

International journal of dermatology 2025; (64(1)):51-61 doi:10.1111/ijd.17396.

X-linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report.

Bhatta S, Pandit S, Chaudhary P, Chhetri NT

Clinical case reports 2024; (12(8)):e9245 doi:10.1002/ccr3.9245.

Steroid sulfatase suppresses keratinization by inducing proteasomal degradation of E-cadherin via Hakai regulation.

Kwon TU, Kwon YJ, Park H, et al.

Biochimica et biophysica acta. Molecular cell research 2025; (1872(3)):119898 doi:10.1016/j.bbamcr.2025.119898.

Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility study.

Wren GH, O'Callaghan P, Zaidi A, et al.

Archives of dermatological research 2025; (317(1)):351 doi:10.1007/s00403-025-03884-x.

Dysregulation of STS in keratinocytes promotes calcium signaling and differentiation.

Kwon TU, Kwon YJ, Park H, et al.

Scientific reports 2025; (15(1)):662 doi:10.1038/s41598-024-84701-9.

Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.

Gavazzi F, Yu E, Tashnim Z, et al.

Journal of child neurology 2025; (40(10)):852-861 doi:10.1177/08830738251339848.

Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.

Dantsev IS, Buianova AA, Polykova EB, et al.

Translational pediatrics 2025; (14(6)):1370-1379 doi:10.21037/tp-2025-87.

Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence.

Fryze M, Pietrzak A

Clinical, cosmetic and investigational dermatology 2026; (19()):581543 doi:10.2147/CCID.S581543.