PLACK
MCID: PLN020
MIFTS: 28

Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads (PLACK)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

MalaCards integrated aliases for Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

Name: Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 57 72 29 6 39
Plack 57 72
Peeling Skin-Leukonychia-Acral Punctate Keratoses-Cheilitis-Knuckle Pads Syndrome 58
Plack Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM®:

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

Miscellaneous:
onset of blistering skin in infancy with improvement over time


HPO:

31
peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 616295
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA444138

Summaries for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

UniProtKB/Swiss-Prot : 72 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads: An autosomal recessive disease characterized by generalized, continuous shedding of the outer layers of the epidermis, leukonychia, acral punctate keratosis, cheilitis, knuckle pads with multiple hyperkeratotic micropapules involving the interphalangeal joints, and palmoplantar keratoderma.

MalaCards based summary : Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads, also known as plack, is related to cheilitis and knuckle pads. An important gene associated with Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads is CAST (Calpastatin). Affiliated tissues include skin, tongue and cortex, and related phenotypes are palmoplantar keratoderma and onycholysis

More information from OMIM: 616295

Related Diseases for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Diseases related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cheilitis 29.5 ERAP1 CAST
2 knuckle pads 29.4 ERAP1 CAST
3 peeling skin syndrome 10.1
4 erythrokeratoderma ''en cocardes'' 10.1
5 keratosis 9.9
6 generalized peeling skin syndrome 9.9
7 cerebral atrophy 9.9
8 rare genetic skin disease 9.9
9 hypertension, essential 9.5 ERAP1 CAST

Graphical network of the top 20 diseases related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:



Diseases related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Symptoms & Phenotypes for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Human phenotypes related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 onycholysis 31 HP:0001806
3 leukonychia 31 HP:0001820
4 epidermal acanthosis 31 HP:0025092
5 scaling skin 31 HP:0040189
6 angular cheilitis 31 HP:0030318

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
widening of intercellular spaces
intraepidermal clefting with irregular acanthosis
electron microscopy
more
Head And Neck Mouth:
angular cheilitis
leukokeratosis of tongue
leukokeratosis of buccal mucosa

Skin Nails Hair Skin:
palmoplantar keratoderma
knuckle pads
generalized peeling skin
acral punctate keratosis
hyperkeratotic micropapules over dorsum of interphalangeal joints

Skin Nails Hair Nails:
proximal leukonychia
mild distal onycholysis

Clinical features from OMIM®:

616295 (Updated 05-Apr-2021)

Drugs & Therapeutics for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Search Clinical Trials , NIH Clinical Center for Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Genetic Tests for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Genetic tests related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

# Genetic test Affiliating Genes
1 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 29 CAST

Anatomical Context for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

MalaCards organs/tissues related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

40
Skin, Tongue, Cortex

Publications for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Articles related to Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

(show all 25)
# Title Authors PMID Year
1
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. 57 6 61
25683118 2015
2
Autosomal recessive pachyonychia congenita. 57 6
3527073 1986
3
PLACK syndrome is potentially treatable with intralipids. 61
33410500 2021
4
PLACK syndrome resulting from a novel homozygous variant in CAST. 61
33010050 2021
5
PLACK syndrome: the penny dropped. 61
32918489 2020
6
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. 61
31392520 2019
7
PLACK syndrome shows remarkable phenotypic homogeneity. 61
30656735 2019
8
Assessing and developing the written reflective practice skills of speech-language pathology students. 61
28925287 2019
9
Co-delivery of a CD4 T cell helper epitope via covalent liposome attachment with a surface-arrayed B cell target antigen fosters higher affinity antibody responses. 61
30197285 2018
10
PLACK syndrome resulting from a new homozygous insertion mutation in CAST. 61
28851602 2017
11
Exploring the source of the mid-level hump for intensity discrimination in quiet and the effects of noise. 61
25786945 2015
12
Improved psychophysical methods to estimate peripheral gain and compression. 61
23716207 2013
13
Does a pitch center exist in auditory cortex? 61
22049331 2012
14
[Carotid artery plaque in patients with disorders of glucose regulation]. 61
18510060 2008
15
Pitch discrimination interference: the role of pitch pulse asynchrony. 61
16018488 2005
16
Factors affecting the duration effect in pitch perception for unresolved complex tones. 61
14714811 2003
17
Enteral immunization with attenuated recombinant Listeria monocytogenes as a live vaccine vector: organ-dependent dynamics of CD4 T lymphocytes reactive to a Leishmania major tracer epitope. 61
12595418 2003
18
Interactions of forward and simultaneous masking in intensity discrimination. 61
9566324 1998
19
Temporal processing of the pitch of complex tones. 61
9566327 1998
20
Loudness enhancement and intensity discrimination under forward and backward masking. 61
8759955 1996
21
Temporal factors in referential intensity coding. 61
8759956 1996
22
Forward- and backward-masked intensity discrimination measured using forced-choice and adjustment procedures. 61
7963025 1994
23
Frequency discrimination in forward and backward masking. 61
1474225 1992
24
[Duplex ultrasound scanning of the carotid arteries in patients with obliterative diseases of the lower extremities]. 61
1437098 1992
25
The vitamin A of a euphausiid crustacean. 61
13416535 1957

Variations for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

ClinVar genetic disease variations for Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAST NM_001190442.1(CAST):c.298A>T (p.Lys100Ter) SNV Pathogenic 189335 rs786204842 GRCh37: 5:96065427-96065427
GRCh38: 5:96729723-96729723
2 CAST , ERAP1 NM_001190442.1(CAST):c.1585del (p.Val529fs) Deletion Pathogenic 189336 rs786205141 GRCh37: 5:96098017-96098017
GRCh38: 5:96762313-96762313
3 CAST NM_001750.7(CAST):c.730dup (p.Ile244fs) Duplication Pathogenic 189334 rs786205140 GRCh37: 5:96073581-96073582
GRCh38: 5:96737877-96737878
4 CAST , ERAP1 NM_001750.7(CAST):c.1974dup (p.Asp659Ter) Duplication Pathogenic 1032571 GRCh37: 5:96100965-96100966
GRCh38: 5:96765261-96765262

Expression for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Search GEO for disease gene expression data for Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads.

Pathways for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

GO Terms for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

Sources for Peeling Skin with Leukonychia, Acral Punctate Keratoses,...

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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