Syndromic Recessive X-Linked Ichthyosis

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Retrieved

2021-01-23

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Orphanet

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Genes

STS, TP53, MDM2, EGFR, SMUG1, AKT1, CRP, PDGFRA, PTEN, TNF, VEGFA, CD274, CDKN2A, BRCA1, ABCB1, HIF1A, IGF1, MLH1, FLG, KDR, KIT, EWSR1, PARP1, MMP9, ABCC1, MSH2, SERPINE1, EGF, VIM, RASSF1

STS, TP53, MDM2, EGFR, SMUG1, AKT1, CRP, PDGFRA, PTEN, TNF, VEGFA, CD274, CDKN2A, BRCA1, ABCB1, HIF1A, IGF1, MLH1, FLG, KDR, KIT, EWSR1, PARP1, MMP9, ABCC1, MSH2, SERPINE1, EGF, VIM, RASSF1, HEATR3, PDCD1, PECAM1, CD44, BCL2, CHEK1, CTNNB1, LGR5, VIP, WNT5A, FOSL1, HMGA2, MLRL, DMD, TACC3, FBP2, CREG1, CFLAR, PROM1, HSPB3, PCLAF, TNFSF10, EZR, VEGFC, BMP2, SSX2, SS18, STAR, STAT3, TERT, TGFB1, TGM1, THBD, TIMP1, TIMP2, BRCA2, TOP2A, BRAF, TST, TYMS, GAB2, HPSE, SMARCB1, RAB40B, IL33, PRIMA1, LPP-AS2, MIRLET7I, MIR152, MIR210, MIR215, MIR34B, MIR429, PRB2, SSX2B, MIR1226, PSC, EMSLR, LOC110806263, RTN4R, HIF3A, MIB1, SETD2, ATF1, CHEK2, TBC1D9, MAPK8IP2, ANXA5, HPGDS, ALK, DEPDC1B, FOXP3, UBASH3A, MIEF1, KRT20, ALB, PIWIL2, SPP1, CCL7, CX3CL1, ELANE, HPGD, HRAS, HSPB1, HSPB2, HTC2, IRF8, IGF2, IL1B, IL6, ANOS1, CSPG4, CSF2, LAG3, LAMB1, LGALS1, GADD45A, CFH, HCCS, ERCC2, EPAS1, STOM, EPHB2, EPHB4, ERBB2, ERCC1, ERCC5, GSTA1, DHCR7, PTK2B, FGFR1, TIMM8A, FOS, MTOR, COL11A2, MDM4, MGMT, POLD1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R2, PLAGL1, PRKCB, CASP3, MAPK1, MAPK8, CA9, RARA, RASGRF1, CCL2, ABCB4, CD8A, MITF, MTAP, MKI67, MMP2, CDC25C, MRC1, CDK1, CD68, MUC1, MS4A1, MYC, NME1, NRAS, PEBP1, CD47, SERPINA5, H3P10

Drugs

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Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

Epidemiology

The prevalence of syndromic RXLI is estimated at 1/50,000-1/150,000. It affects almost exclusively males.

Clinical description

Cutaneous manifestations include generalized hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. This mechanism can be observed in Kallman syndrome, hypergonadotropic hypogonadism, ocular albinism type 1 (see these terms), or hypertrophic pyloric stenosis.

Etiology

RLXI is due to mutations in the steroid sulfatase STS gene located on chromosome Xp22.3. STS codes for a lipid hydrolase that participates in the regulation of permeability barrier homeostasis and desquamation. STS mutations result in abnormal desquamation, decreased corneodesmosomal degradation and retention hyperkeratosis. Transmission is X-linked recessive.