PPKN
MCID: PLM104
MIFTS: 24

Palmoplantar Keratoderma, Nagashima Type (PPKN)

Categories: Genetic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nagashima Type

MalaCards integrated aliases for Palmoplantar Keratoderma, Nagashima Type:

Name: Palmoplantar Keratoderma, Nagashima Type 57 58 36 29 6 70
Keratoderma, Palmoplantar, Nagashima Type 72 39
Ppkn 57 72
Palmoplantar Hyperkeratosis, Nagashima Type 58
Ppk, Nagashima Type 58

Characteristics:

Orphanet epidemiological data:

58
palmoplantar keratoderma, nagashima type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life


HPO:

31
palmoplantar keratoderma, nagashima type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 615598
KEGG 36 H02264
MeSH 44 D007645
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA140966
UMLS 70 C3810072

Summaries for Palmoplantar Keratoderma, Nagashima Type

OMIM® : 57 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) and the Gamborg Nielsen type of recessive PPK (PPK Norrbotten; 244850), 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). (615598) (Updated 05-Apr-2021)

MalaCards based summary : Palmoplantar Keratoderma, Nagashima Type, also known as keratoderma, palmoplantar, nagashima type, is related to palmoplantar keratoderma, bothnian type. An important gene associated with Palmoplantar Keratoderma, Nagashima Type is SERPINB7 (Serpin Family B Member 7). Affiliated tissues include skin, and related phenotypes are hyperhidrosis and palmoplantar keratoderma

KEGG : 36 Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Its clinical manifestations are similar to but milder than those of mal de Meleda. It has been reported that mutations in SERPINB7, encoding a member of the serine protease inhibitor, cause PPKN.

UniProtKB/Swiss-Prot : 72 Keratoderma, palmoplantar, Nagashima type: An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive.

Related Diseases for Palmoplantar Keratoderma, Nagashima Type

Diseases related to Palmoplantar Keratoderma, Nagashima Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, bothnian type 10.9

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nagashima Type

Human phenotypes related to Palmoplantar Keratoderma, Nagashima Type:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 epidermal acanthosis 31 HP:0025092
4 palmoplantar hyperhidrosis 31 HP:0007410
5 orthokeratotic hyperkeratosis 31 HP:0025080
6 hypergranulosis 31 HP:0025114
7 maceration 31 HP:0032007

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin Histology:
orthokeratotic hyperkeratosis
hypergranulosis
acanthosis
perivascular inflammatory infiltrate, mild
lymphocytic infiltrate in upper dermis, mild to moderate

Skin Nails Hair Skin:
hyperhidrosis of palms and soles
erythematous palmoplantar hyperkeratosis, progressive extending onto dorsum of hands and achilles tendon area
maceration of palms and soles
distinct odor of palms and soles

Clinical features from OMIM®:

615598 (Updated 05-Apr-2021)

Drugs & Therapeutics for Palmoplantar Keratoderma, Nagashima Type

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Nagashima Type

Genetic Tests for Palmoplantar Keratoderma, Nagashima Type

Genetic tests related to Palmoplantar Keratoderma, Nagashima Type:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nagashima Type 29 SERPINB7

Anatomical Context for Palmoplantar Keratoderma, Nagashima Type

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nagashima Type:

40
Skin

Publications for Palmoplantar Keratoderma, Nagashima Type

Articles related to Palmoplantar Keratoderma, Nagashima Type:

# Title Authors PMID Year
1
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. 57 6
24773080 2014
2
New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis. 57 6
24514002 2014
3
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. 57 6
24207119 2013
4
A familial case of Nagashima-type palmoplantar keratosis. 57
20542838 2010
5
'Nagashima-type' keratosis palmoplantaris in two siblings. 57
19470072 2009
6
"Nagashima-type" keratosis as a novel entity in the palmoplantar keratoderma category. 57
18347294 2008

Variations for Palmoplantar Keratoderma, Nagashima Type

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nagashima Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINB7 NM_003784.4(SERPINB7):c.218_219delinsTAAACTTTACCT (p.Gln73fs) Indel Pathogenic 102447 rs797044479 GRCh37: 18:61459676-61459677
GRCh38: 18:63792442-63792443
2 SERPINB7 NM_003784.4(SERPINB7):c.455-1G>A SNV Pathogenic 102448 rs577442939 GRCh37: 18:61465837-61465837
GRCh38: 18:63798603-63798603
3 SERPINB7 NM_003784.4(SERPINB7):c.522dup (p.Val175fs) Duplication Pathogenic 157566 rs672601344 GRCh37: 18:61465904-61465905
GRCh38: 18:63798670-63798671
4 SERPINB7 NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) SNV Pathogenic 102446 rs142859678 GRCh37: 18:61471522-61471522
GRCh38: 18:63804288-63804288
5 SERPINB7 NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs) Deletion Pathogenic 1033615 GRCh37: 18:61468149-61468152
GRCh38: 18:63800915-63800918

Expression for Palmoplantar Keratoderma, Nagashima Type

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Nagashima Type.

Pathways for Palmoplantar Keratoderma, Nagashima Type

GO Terms for Palmoplantar Keratoderma, Nagashima Type

Sources for Palmoplantar Keratoderma, Nagashima Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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