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Palmoplantar keratoderma, Nagashima type(PPKN)

MedGen UID:
816402
Concept ID:
C3810072
Disease or Syndrome
Synonyms: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN
SNOMED CT: Palmoplantar keratoderma Nagashima type (722205008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SERPINB7 (18q21.33)
 
Monarch Initiative: MONDO:0014272
OMIM®: 615598
Orphanet: ORPHA140966

Definition

Nagashima-type palmoplantar keratoderma is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis, first described by Nagashima (1977) in the Japanese literature. It is characterized by well-demarcated diffuse erythematous hyperkeratosis that extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Involvement of the elbows and knees has also been reported, and there is a high frequency of hyperhidrosis on the palms and soles. In contrast to other types of transgressive diffuse hyperkeratosis such as mal de Meleda (248300), PPKN shows only mild hyperkeratosis that is nonprogressive after the second decade and does not involve flexion contractures or constricting bands (summary by Kubo et al., 2013). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). [from OMIM]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
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).
Maceration
MedGen UID:
108234
Concept ID:
C0558143
Finding
A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.
Palmoplantar hyperhidrosis
MedGen UID:
224808
Concept ID:
C1274743
Disease or Syndrome
Hyperhidrosis palmaris et plantaris (HYPRPP) is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and axilla. Perspiration in those affected may be aggravated by emotional stimuli (summary by Higashimoto et al., 2006). Stolman (1998) noted that hyperhidrosis may be complicated by skin maceration as well as secondary microbial infections, and that treatment modalities are associated with complications.
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.
Orthokeratotic hyperkeratosis
MedGen UID:
811321
Concept ID:
C3670629
Disease or Syndrome
A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPalmoplantar keratoderma, Nagashima type
Follow this link to review classifications for Palmoplantar keratoderma, Nagashima type in Orphanet.

Professional guidelines

PubMed

Huang C, Yang Y, Huang X, Zhou Z
Biomed Res Int 2021;2021:8841994. Epub 2021 Jan 27 doi: 10.1155/2021/8841994. PMID: 33575348Free PMC Article

Recent clinical studies

Etiology

Brandt E, Harjama L, Elomaa O, Saarela J, Donner K, Lappalainen K, Kivirikko S, Ranki A, Kere J, Kettunen K, Hannula-Jouppi K
J Eur Acad Dermatol Venereol 2024 Feb;38(2):413-418. Epub 2023 Sep 22 doi: 10.1111/jdv.19498. PMID: 37684051
Liu J, Chen Z, Hu L, Song Z, Mo R, Tsang LS, Liu Y, Huang X, Gong Z, Lin Z, Yang Y
J Dermatol 2023 Mar;50(3):375-382. Epub 2022 Nov 1 doi: 10.1111/1346-8138.16621. PMID: 36317385
Cohen-Barak E, Azzam W, Koetsier JL, Danial-Farran N, Barcan M, Hriesh M, Khayat M, Edison N, Krausz J, Gafni-Amsalem C, Kubo A, Godsel LM, Ziv M, Allon-Shalev S
Exp Dermatol 2022 Feb;31(2):214-222. Epub 2021 Aug 17 doi: 10.1111/exd.14444. PMID: 34379845Free PMC Article
Li Y, Yu X, Pan C, Wang Y, Han J, Yao Z, Li M
Acta Derm Venereol 2021 Feb 11;101(2):adv00392. doi: 10.2340/00015555-3760. PMID: 33554268Free PMC Article
Katayama S, Nomura T, Takeda M, Miyauchi T, Suzuki S, Peh JT, Nohara T, Kitamura S, Hata H, Shimizu H
Acta Derm Venereol 2019 Dec 1;99(13):1311-1312. doi: 10.2340/00015555-3326. PMID: 31573665

Diagnosis

Braun M, Choate KA, Mathes EF
Pediatr Dermatol 2023 Sep-Oct;40(5):882-885. Epub 2023 Jan 31 doi: 10.1111/pde.15265. PMID: 36721328
Liu J, Chen Z, Hu L, Song Z, Mo R, Tsang LS, Liu Y, Huang X, Gong Z, Lin Z, Yang Y
J Dermatol 2023 Mar;50(3):375-382. Epub 2022 Nov 1 doi: 10.1111/1346-8138.16621. PMID: 36317385
Huang C, Yang Y, Huang X, Zhou Z
Biomed Res Int 2021;2021:8841994. Epub 2021 Jan 27 doi: 10.1155/2021/8841994. PMID: 33575348Free PMC Article
Chen W, Song Z, Yang CC, Hao F
J Eur Acad Dermatol Venereol 2019 Feb;33(2):277-280. Epub 2018 Oct 23 doi: 10.1111/jdv.15266. PMID: 30284750
Zhang J, Zhang G, Ni C, Cheng R, Liang J, Li M, Yao Z
Mol Med Rep 2016 Nov;14(5):4049-4054. Epub 2016 Sep 21 doi: 10.3892/mmr.2016.5757. PMID: 27666198Free PMC Article

Therapy

Li Y, Yu X, Pan C, Wang Y, Han J, Yao Z, Li M
Acta Derm Venereol 2021 Feb 11;101(2):adv00392. doi: 10.2340/00015555-3760. PMID: 33554268Free PMC Article
Ohguchi Y, Nomura T, Suzuki S, Takeda M, Miyauchi T, Mizuno O, Shinkuma S, Fujita Y, Nemoto O, Ono K, McLean WHI, Shimizu H
J Invest Dermatol 2018 Apr;138(4):836-843. Epub 2017 Oct 26 doi: 10.1016/j.jid.2017.10.014. PMID: 29106929

Prognosis

Huang C, Yang Y, Huang X, Zhou Z
Biomed Res Int 2021;2021:8841994. Epub 2021 Jan 27 doi: 10.1155/2021/8841994. PMID: 33575348Free PMC Article
Chen W, Song Z, Yang CC, Hao F
J Eur Acad Dermatol Venereol 2019 Feb;33(2):277-280. Epub 2018 Oct 23 doi: 10.1111/jdv.15266. PMID: 30284750
Zhang J, Zhang G, Ni C, Cheng R, Liang J, Li M, Yao Z
Mol Med Rep 2016 Nov;14(5):4049-4054. Epub 2016 Sep 21 doi: 10.3892/mmr.2016.5757. PMID: 27666198Free PMC Article
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M
Am J Hum Genet 2013 Nov 7;93(5):945-56. Epub 2013 Oct 24 doi: 10.1016/j.ajhg.2013.09.015. PMID: 24207119Free PMC Article
Kabashima K, Sakabe J, Yamada Y, Tokura Y
Arch Dermatol 2008 Mar;144(3):375-9. doi: 10.1001/archderm.144.3.375. PMID: 18347294

Clinical prediction guides

Li Y, Yu X, Pan C, Wang Y, Han J, Yao Z, Li M
Acta Derm Venereol 2021 Feb 11;101(2):adv00392. doi: 10.2340/00015555-3760. PMID: 33554268Free PMC Article
Chen W, Song Z, Yang CC, Hao F
J Eur Acad Dermatol Venereol 2019 Feb;33(2):277-280. Epub 2018 Oct 23 doi: 10.1111/jdv.15266. PMID: 30284750
Zhang J, Zhang G, Ni C, Cheng R, Liang J, Li M, Yao Z
Mol Med Rep 2016 Nov;14(5):4049-4054. Epub 2016 Sep 21 doi: 10.3892/mmr.2016.5757. PMID: 27666198Free PMC Article
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M
Am J Hum Genet 2013 Nov 7;93(5):945-56. Epub 2013 Oct 24 doi: 10.1016/j.ajhg.2013.09.015. PMID: 24207119Free PMC Article
Kabashima K, Sakabe J, Yamada Y, Tokura Y
Arch Dermatol 2008 Mar;144(3):375-9. doi: 10.1001/archderm.144.3.375. PMID: 18347294

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