U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital palmoplantar hyperkeratosis

MedGen UID:
383728
Concept ID:
C1855633
Congenital Abnormality; Finding
Synonyms: Congenital palmoplantar keratodermia; Congenital palmoplantar keratosis
 
HPO: HP:0007545

Definition

Abnormal thickening of the skin on the palms and soles that is present at birth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital palmoplantar hyperkeratosis

Conditions with this feature

Keratoderma with scleroatrophy of the extremities
MedGen UID:
98360
Concept ID:
C0406767
Congenital Abnormality
Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation (summary by Lee et al., 2000). See also 610644 for description of a disorder resembling Huriez syndrome, involving palmoplantar hyperkeratosis and squamous cell carcinoma in association with SRY (480000)-negative female-to-male XX sex reversal, caused by mutation in the RSPO1 gene (609595).
Haim-Munk syndrome
MedGen UID:
344539
Concept ID:
C1855627
Disease or Syndrome
Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers (summary by Hart et al., 2000).
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
MedGen UID:
1823973
Concept ID:
C5774200
Disease or Syndrome
Autosomal recessive keratoderma-ichthyosis-deafness syndrome (KDIDAR) is characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Other variable features include contractures, mild bleeding diathesis, and psychomotor retardation (Gruber et al., 2017).

Professional guidelines

PubMed

Ge M, Ji C, Li H, Huang H
DNA Cell Biol 2023 Oct;42(10):645-652. Epub 2023 Aug 10 doi: 10.1089/dna.2023.0154. PMID: 37566479
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article
Milstone LM, Fleckman P, Leachman SA, Leigh IM, Paller AS, van Steensel MA, Swartling C
J Investig Dermatol Symp Proc 2005 Oct;10(1):18-20. doi: 10.1111/j.1087-0024.2005.10203.x. PMID: 16250205

Recent clinical studies

Etiology

Youssefian L, Niaziorimi F, Saeidian AH, South AP, Khosravi-Bachehmir F, Khodavaisy S, Vahidnezhad H, Uitto J
J Invest Dermatol 2021 Jul;141(7):1754-1764.e1. Epub 2021 Jan 7 doi: 10.1016/j.jid.2020.11.030. PMID: 33422619
Gupta VP, Chaudhari I
Middle East Afr J Ophthalmol 2018 Jan-Mar;25(1):49-51. doi: 10.4103/meajo.MEAJO_221_17. PMID: 29899652Free PMC Article
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C
Acta Derm Venereol 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974. PMID: 25227139
Thiers BH
J Am Acad Dermatol 1997 Sep;37(3 Pt 2):S69-71. PMID: 9344189
Feinstein A, Friedman J, Schewach-Millet M
J Am Acad Dermatol 1988 Oct;19(4):705-11. doi: 10.1016/s0190-9622(88)70226-1. PMID: 3053803

Diagnosis

Nair N, Chang J, Evans MS
Pediatr Dermatol 2022 May;39(3):476-477. Epub 2022 Mar 20 doi: 10.1111/pde.14984. PMID: 36156296
Lee TL, Lin PH, Chen PL, Hong JB, Wu CC
Genes (Basel) 2020 Dec 30;12(1) doi: 10.3390/genes12010043. PMID: 33396879Free PMC Article
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A
Dermatol Online J 2007 Oct 13;13(4):11. PMID: 18319008
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

Therapy

Thomas M, Shon W, Truong AK
Dermatol Online J 2021 Jul 15;27(7) doi: 10.5070/D327754369. PMID: 34391333
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A
Dermatol Online J 2007 Oct 13;13(4):11. PMID: 18319008
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790
Thiers BH
J Am Acad Dermatol 1997 Sep;37(3 Pt 2):S69-71. PMID: 9344189
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Prognosis

Thomas M, Shon W, Truong AK
Dermatol Online J 2021 Jul 15;27(7) doi: 10.5070/D327754369. PMID: 34391333
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C
Acta Derm Venereol 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974. PMID: 25227139
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
Pediatr Dermatol 1996 Mar-Apr;13(2):105-13. doi: 10.1111/j.1525-1470.1996.tb01414.x. PMID: 9122065
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Clinical prediction guides

Youssefian L, Niaziorimi F, Saeidian AH, South AP, Khosravi-Bachehmir F, Khodavaisy S, Vahidnezhad H, Uitto J
J Invest Dermatol 2021 Jul;141(7):1754-1764.e1. Epub 2021 Jan 7 doi: 10.1016/j.jid.2020.11.030. PMID: 33422619
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C
Acta Derm Venereol 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974. PMID: 25227139
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A
Dermatol Online J 2007 Oct 13;13(4):11. PMID: 18319008
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB
J Investig Dermatol Symp Proc 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x. PMID: 16250204
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

Recent systematic reviews

Thomas M, Shon W, Truong AK
Dermatol Online J 2021 Jul 15;27(7) doi: 10.5070/D327754369. PMID: 34391333
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...