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Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome(PLACK)

MedGen UID:
902464
Concept ID:
C4225381
Disease or Syndrome
Synonym: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
SNOMED CT: PLACK syndrome (1237509001); PLACK (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome (1237509001); Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (1237509001); Peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (1237509001)
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): CAST (5q15)
 
Monarch Initiative: MONDO:0014574
OMIM®: 616295
Orphanet: ORPHA444138

Definition

A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent. [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.
Cheilitis
MedGen UID:
3349
Concept ID:
C0007971
Disease or Syndrome
Inflammation of the lip.
Oral mucosa leukoplakia
MedGen UID:
9738
Concept ID:
C0023532
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
Angular cheilitis
MedGen UID:
526202
Concept ID:
C0221237
Disease or Syndrome
A type of inflammation of the lips involving one or both of the corners of the mouth.
Acantholysis
MedGen UID:
1687
Concept ID:
C0000887
Pathologic Function
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Onycholysis
MedGen UID:
39324
Concept ID:
C0085661
Disease or Syndrome
Detachment of the nail from the nail bed.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
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).
Scaling skin
MedGen UID:
472970
Concept ID:
C0237849
Finding
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
Leukonychia
MedGen UID:
68698
Concept ID:
C0240182
Finding
White discoloration of the nails.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Knuckle pads
MedGen UID:
78103
Concept ID:
C0264000
Disease or Syndrome
Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'
Phrynoderma
MedGen UID:
83101
Concept ID:
C0334013
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Telangiectases of the cheeks
MedGen UID:
767501
Concept ID:
C3554587
Finding
Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome

Recent clinical studies

Etiology

Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP, Yakıcıer MC
Cell Tissue Res 2019 Nov;378(2):267-277. Epub 2019 Aug 7 doi: 10.1007/s00441-019-03077-9. PMID: 31392520

Diagnosis

Nguyen C, Hughes C, Little S, Carruth A, Nolan D, Ruth J
Pediatr Dermatol 2024 Nov-Dec;41(6):1211-1214. Epub 2024 Jul 12 doi: 10.1111/pde.15671. PMID: 38994911
Boggs JME, Irvine AD
Pediatr Dermatol 2021 Jan;38(1):210-212. Epub 2020 Oct 3 doi: 10.1111/pde.14383. PMID: 33010050

Therapy

Sawan ZA, Almehaidib A, Binamer Y, Monies D, Alsaleem KA, Aldekhail W, Alkuraya FS, Abanemai M
Clin Genet 2021 Apr;99(4):572-576. Epub 2021 Jan 20 doi: 10.1111/cge.13919. PMID: 33410500

Prognosis

Sawan ZA, Almehaidib A, Binamer Y, Monies D, Alsaleem KA, Aldekhail W, Alkuraya FS, Abanemai M
Clin Genet 2021 Apr;99(4):572-576. Epub 2021 Jan 20 doi: 10.1111/cge.13919. PMID: 33410500
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y
Am J Hum Genet 2015 Mar 5;96(3):440-7. Epub 2015 Feb 12 doi: 10.1016/j.ajhg.2014.12.026. PMID: 25683118Free PMC Article

Clinical prediction guides

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y
Am J Hum Genet 2015 Mar 5;96(3):440-7. Epub 2015 Feb 12 doi: 10.1016/j.ajhg.2014.12.026. PMID: 25683118Free PMC Article

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