Palmoplantar Keratoderma And Woolly Hair; Ppkwh

Description

Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.

Clinical Features

Top most frequent phenotypes and symptoms related to Palmoplantar Keratoderma And Woolly Hair; Ppkwh

  • Dyspnea
  • Ranula
  • Palmoplantar keratoderma
  • Sparse scalp hair
  • Epidermal acanthosis
  • Sparse and thin eyebrow
  • Syncope
  • Sparse eyelashes
  • Sparse body hair
  • Woolly hair
And another 4 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.


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Palmoplantar Keratoderma And Woolly Hair; Ppkwh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KANK2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

KANK2
Specificity
100 %
Genes
100 %
KANK2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

KANK2
Specificity
100 %
Genes
100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via the KANK2 Gene.

By PreventionGenetics PreventionGenetics in United States.

KANK2
Specificity
100 %
Genes
100 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %

Alternate names

Palmoplantar Keratoderma And Woolly Hair; Ppkwh Is also known as ;kwwh type iv; keratoderma with woolly hair type iv; woolly hair-palmoplantar hyperkeratosis syndrome.


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