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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.
 
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.
Abnormal dental morphology
MedGen UID:
11849
Concept ID:
C0040427
Anatomical Abnormality
An abnormality of the morphology of the tooth.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
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).
Abnormal nail morphology
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormal structure or appearance of the nail.
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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
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

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
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
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
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

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
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

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

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

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

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