Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,xx Sex Reversal

Description

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.

Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,xx Sex Reversal

  • Hearing impairment
  • Strabismus
  • Milia
  • Coma
  • Hypospadias
  • Hyperkeratosis
  • Carcinoma
  • Corneal opacity
  • Nail dystrophy
  • Palmoplantar keratoderma
And another 19 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,xx Sex Reversal Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11B1, HCCS, B3GLCT, CYP19A1, WNT4, RSPO1, PSMC3IP
Specificity
13 %
Genes
100 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

WT1, CYP11B1, HCCS, NR5A1, B3GLCT, CYP19A1, WNT4, RSPO1, PSMC3IP
Specificity
12 %
Genes
100 %
RSPO1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

RSPO1
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, CYB5A, CYP17A1, AR, ARX, DHCR7, SRY, NR0B1, LHCGR, ATRX, SOX3, POR, SOX9, RIPK4, NR5A1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
RSPO1.

By Fulgent Genetics Fulgent Genetics in United States.

RSPO1
Specificity
100 %
Genes
100 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %

Alternate names

Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,xx Sex Reversal Is also known as ;palmoplantar hyperkeratosis-xx sex reversal-predisposition to squamous cell carcinoma syndrome.


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