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Punctate palmoplantar keratoderma

MedGen UID:
697565
•Concept ID:
C1274216
•
Congenital Abnormality
Synonym: Keratoderma, palmoplantar punctate
SNOMED CT: Punctate palmoplantar keratoderma (402773000)

Professional guidelines

PubMed

Diagnosis and Management of Inherited Palmoplantar Keratodermas.
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".
Sakiyama T, Kubo A
J Dermatol 2016 Mar;43(3):264-74. doi: 10.1111/1346-8138.13219. PMID: 26945534

Recent clinical studies

Etiology

Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB
Clin Genet 2024 May;105(5):561-566. Epub 2024 Feb 4 doi: 10.1111/cge.14486. PMID: 38311882
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
Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.
Charfeddine C, Ktaifi C, Laroussi N, Hammami H, Jmel H, Landoulsi Z, Badri T, Benmously R, Bchetnia M, Boubaker MS, Fenniche S, Abdelhak S, Mokni M
J Eur Acad Dermatol Venereol 2016 Dec;30(12):2122-2130. Epub 2016 Jul 12 doi: 10.1111/jdv.13787. PMID: 27400994
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
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH
Nat Genet 2012 Nov;44(11):1272-6. Epub 2012 Oct 14 doi: 10.1038/ng.2444. PMID: 23064416Free PMC Article

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
Congenital hypopigmentation, hyperpigmentation, and punctate palmoplantar keratoderma.
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
Palmar and Plantar Pits, More than Just Viral Warts.
Alejo A, Castellanos-Angarita A, Arias L, Mejía M, Charry L
Skinmed 2021;19(4):310-312. Epub 2021 Aug 1 PMID: 34526209
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
Punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome).
Oztas P, Alli N, Polat M, Dagdelen S, Ustün H, Artüz F, Erdemli E
Am J Clin Dermatol 2007;8(2):113-6. doi: 10.2165/00128071-200708020-00008. PMID: 17428117

Therapy

Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid.
Jo JW, Jeong DS, Kim CY
J Dermatol 2018 May;45(5):609-612. Epub 2018 Mar 3 doi: 10.1111/1346-8138.14255. PMID: 29500825
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
Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin.
Al-Mutairi N, Joshi A, Nour-Eldin O
J Drugs Dermatol 2005 Sep-Oct;4(5):627-34. PMID: 16167422
Punctate palmoplantar keratoderma with pigmentary lesions on the dorsa of feet and ankles: successful treatment with a combination of low-dose oral etretinate and topical calcipotriol.
Horikoshi M, Kuroda K, Tajima S
J Dermatol 2004 Jun;31(6):469-72. doi: 10.1111/j.1346-8138.2004.tb00534.x. PMID: 15235186

Prognosis

Hyperpigmentation in a Chinese family with autosomal dominant Cole disease.
Li Z, Wang L, Wang S
Exp Dermatol 2022 Feb;31(2):248-254. Epub 2021 Jul 29 doi: 10.1111/exd.14434. PMID: 34297442
A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma.
Gómez-García AC, Salas-Alanís JC, Bar-Fernandez N, Mendoza-Meza R, Díaz-Montes SM, Fajardo-Ramírez OR
Acta Dermatovenerol Alp Pannonica Adriat 2021 Mar;30(1):47-48. PMID: 33765759
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 and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.
Charfeddine C, Ktaifi C, Laroussi N, Hammami H, Jmel H, Landoulsi Z, Badri T, Benmously R, Bchetnia M, Boubaker MS, Fenniche S, Abdelhak S, Mokni M
J Eur Acad Dermatol Venereol 2016 Dec;30(12):2122-2130. Epub 2016 Jul 12 doi: 10.1111/jdv.13787. PMID: 27400994
Punctate palmoplantar keratoderma and malignancy in a four-generation family.
Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, MacDermot KD, Rustin MH
Br J Dermatol 1996 Apr;134(4):720-6. PMID: 8733379

Clinical prediction guides

Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
Gram SB, Jørgensen ASF, Bygum A, Brusgaard K, Ousager LB
Clin Genet 2024 May;105(5):561-566. Epub 2024 Feb 4 doi: 10.1111/cge.14486. PMID: 38311882
Hyperpigmentation in a Chinese family with autosomal dominant Cole disease.
Li Z, Wang L, Wang S
Exp Dermatol 2022 Feb;31(2):248-254. Epub 2021 Jul 29 doi: 10.1111/exd.14434. PMID: 34297442
A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma.
Gómez-García AC, Salas-Alanís JC, Bar-Fernandez N, Mendoza-Meza R, Díaz-Montes SM, Fajardo-Ramírez OR
Acta Dermatovenerol Alp Pannonica Adriat 2021 Mar;30(1):47-48. PMID: 33765759
Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.
Charfeddine C, Ktaifi C, Laroussi N, Hammami H, Jmel H, Landoulsi Z, Badri T, Benmously R, Bchetnia M, Boubaker MS, Fenniche S, Abdelhak S, Mokni M
J Eur Acad Dermatol Venereol 2016 Dec;30(12):2122-2130. Epub 2016 Jul 12 doi: 10.1111/jdv.13787. PMID: 27400994
Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31.
Gao M, Yang S, Li M, Yan KL, Jiang YX, Cui Y, Xiao FL, Shen YJ, Chen JJ, Liu JB, Xu SJ, Huang W, Zhang XJ
Br J Dermatol 2005 May;152(5):874-8. doi: 10.1111/j.1365-2133.2005.06488.x. PMID: 15888140

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

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