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Punctate palmoplantar keratoderma type 1(PPKP1; PPKP1A)

MedGen UID:
372099
•Concept ID:
C1835662
•
Disease or Syndrome
Synonyms: Buschke fischer brauer syndrome; Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; Type I punctate palmoplantar keratoderma
SNOMED CT: Punctate palmoplantar keratoderma type 1 (717184007); Buschke Fischer Brauer syndrome (717184007); Keratodermia palmoplantaris papulosa Buschke Fischer Brauer type (717184007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Related gene: AAGAB
 
Monarch Initiative: MONDO:0019332
OMIM®: 148600; 614888
Orphanet: ORPHA79501

Definition

A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype [from SNOMEDCT_US]

Clinical features

From HPO
Punctate palmoplantar hyperkeratosis
MedGen UID:
870406
•Concept ID:
C4024851
•
Disease or Syndrome
A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
See: Feature record | Search on this feature
Abnormal dental morphology
MedGen UID:
11849
•Concept ID:
C0040427
•
Anatomical Abnormality
An abnormality of the morphology of the tooth.
See: Feature record | Search on this feature
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
Epidermal acanthosis
MedGen UID:
65136
•Concept ID:
C0221270
•
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
See: Feature record | Search on this feature
Abnormal nail morphology
MedGen UID:
163115
•Concept ID:
C0853087
•
Anatomical Abnormality
Abnormal structure or appearance of the nail.
See: Feature record | Search on this feature
Orthokeratosis
MedGen UID:
375169
•Concept ID:
C1843359
•
Finding
Formation of an anuclear keratin layer
See: Feature record | Search on this feature
Hypergranulosis
MedGen UID:
481177
•Concept ID:
C3279547
•
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature.
Gram SB, Bjerrelund J, Jelsig AM, Bygum A, Leboeuf-Yde C, Ousager LB
Orphanet J Rare Dis 2023 Sep 13;18(1):290. doi: 10.1186/s13023-023-02862-8. PMID: 37705065Free PMC Article
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN
Acta Derm Venereol 2016 May;96(4):468-72. doi: 10.2340/00015555-2304. PMID: 26608363

Diagnosis

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature.
Gram SB, Bjerrelund J, Jelsig AM, Bygum A, Leboeuf-Yde C, Ousager LB
Orphanet J Rare Dis 2023 Sep 13;18(1):290. doi: 10.1186/s13023-023-02862-8. PMID: 37705065Free PMC Article
Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.
Hasegawa A, Hayashi R, Shimomura Y, Hirashima M, Abe R
J Dermatol 2021 Dec;48(12):1926-1930. Epub 2021 Sep 17 doi: 10.1111/1346-8138.16162. PMID: 34535911
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN
Acta Derm Venereol 2016 May;96(4):468-72. doi: 10.2340/00015555-2304. PMID: 26608363
Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, Ohguchi Y, Nomura Y, Yamashita T, McLean WH, Shimizu H
Acta Derm Venereol 2015 Jan;95(1):110-1. doi: 10.2340/00015555-1832. PMID: 24573067

Therapy

Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.
Nomura T, Moriuchi R, Takeda M, Suzuki S, Kikuchi K, Ito T, Shimizu H, Shimizu S
J Dermatol 2015 Sep;42(9):889-92. Epub 2015 Apr 28 doi: 10.1111/1346-8138.12916. PMID: 25919143
Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, Ohguchi Y, Nomura Y, Yamashita T, McLean WH, Shimizu H
Acta Derm Venereol 2015 Jan;95(1):110-1. doi: 10.2340/00015555-1832. PMID: 24573067

Prognosis

AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.
Elhaji Y, Hedlin C, Nath A, Price EL, Gallant C, Northgrave S, Hull PR
J Cutan Med Surg 2020 Jan/Feb;24(1):28-32. Epub 2019 Sep 16 doi: 10.1177/1203475419878161. PMID: 31526046

Clinical prediction guides

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN
Acta Derm Venereol 2016 May;96(4):468-72. doi: 10.2340/00015555-2304. PMID: 26608363

Recent systematic reviews

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature.
Gram SB, Bjerrelund J, Jelsig AM, Bygum A, Leboeuf-Yde C, Ousager LB
Orphanet J Rare Dis 2023 Sep 13;18(1):290. doi: 10.1186/s13023-023-02862-8. PMID: 37705065Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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