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Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

MedGen UID:
1807813
Concept ID:
C5681108
Disease or Syndrome
Synonyms: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA; CAPOK; Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome; pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
SNOMED CT: Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (1230005002)
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).
 
Monarch Initiative: MONDO:0018657
Orphanet: ORPHA447961

Definition

A rare genetic skin disease with characteristics of infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo and hyperpigmented macules of the trunk and face and areas of reticular hypo and hyperpigmentation of the extremities), palmoplantar keratoderma and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

Professional guidelines

PubMed

Meserve EE, Nucci MR
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Recent clinical studies

Etiology

Jouinot A, Bertherat J
Exp Suppl 2019;111:149-169. doi: 10.1007/978-3-030-25905-1_9. PMID: 31588532
Bruner P, Bashline B
FP Essent 2019 Jun;481:23-27. PMID: 31188549
Jaju PD, Ransohoff KJ, Tang JY, Sarin KY
J Am Acad Dermatol 2016 Mar;74(3):437-51; quiz 452-4. doi: 10.1016/j.jaad.2015.08.073. PMID: 26892653
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Diagnosis

Guarnotta V, Emanuele F, Salzillo R, Giordano C
Front Endocrinol (Lausanne) 2023;14:1329082. Epub 2023 Dec 12 doi: 10.3389/fendo.2023.1329082. PMID: 38192416Free PMC Article
Bruner P, Bashline B
FP Essent 2019 Jun;481:23-27. PMID: 31188549
Greenberg SA, Schlosser BJ, Mirowski GW
Clin Dermatol 2017 Sep-Oct;35(5):e1-e14. Epub 2017 Nov 16 doi: 10.1016/j.clindermatol.2017.11.003. PMID: 29289276
Mangold AR, Torgerson RR, Rogers RS 3rd
Clin Dermatol 2016 Jul-Aug;34(4):458-69. Epub 2016 Mar 8 doi: 10.1016/j.clindermatol.2016.02.018. PMID: 27343960
Elston DM, Stratman EJ, Miller SJ
J Am Acad Dermatol 2016 Jan;74(1):1-16; quiz 17-8. doi: 10.1016/j.jaad.2015.06.033. PMID: 26702794

Therapy

Mandal B, Das R, Mondal S
Ann Pharm Fr 2024 May;82(3):373-391. Epub 2024 Feb 13 doi: 10.1016/j.pharma.2024.02.005. PMID: 38354975
Javle M, Roychowdhury S, Kelley RK, Sadeghi S, Macarulla T, Weiss KH, Waldschmidt DT, Goyal L, Borbath I, El-Khoueiry A, Borad MJ, Yong WP, Philip PA, Bitzer M, Tanasanvimon S, Li A, Pande A, Soifer HS, Shepherd SP, Moran S, Zhu AX, Bekaii-Saab TS, Abou-Alfa GK
Lancet Gastroenterol Hepatol 2021 Oct;6(10):803-815. Epub 2021 Aug 3 doi: 10.1016/S2468-1253(21)00196-5. PMID: 34358484
Steele L, Shipman AR
Clin Exp Dermatol 2021 Apr;46(3):438-443. Epub 2020 Nov 12 doi: 10.1111/ced.14471. PMID: 33180972
Serup J
Curr Probl Dermatol 2017;52:58-73. Epub 2017 Mar 10 doi: 10.1159/000450780. PMID: 28288451
Rauschecker M, Stratakis CA
Minerva Endocrinol 2012 Jun;37(2):133-9. PMID: 22691887Free PMC Article

Prognosis

Bonnet-Serrano F, Bertherat J
Endocr Relat Cancer 2018 Mar;25(3):R131-R152. Epub 2017 Dec 12 doi: 10.1530/ERC-17-0361. PMID: 29233839
Baena-Cañada JM, Martínez MJ, García-Olmedo O, Jiménez-Bárcenas R, Muriel-Cueto P
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Biomed Pharmacother 2000 Jun;54 Suppl 1:140s-145s. doi: 10.1016/s0753-3322(00)80031-1. PMID: 10915011
Stratakis CA, Ball DW
J Pediatr Endocrinol Metab 2000 May;13(5):457-65. doi: 10.1515/jpem.2000.13.5.457. PMID: 10803862

Clinical prediction guides

Gosavi V, Lila A, Memon SS, Sarathi V, Thakkar K, Dalvi A, Malhotra G, Prakash G, Patil V, Shah NS, Bandgar T
Horm Metab Res 2022 Feb;54(2):57-66. Epub 2022 Feb 7 doi: 10.1055/a-1735-3232. PMID: 35130566
Bruner P, Bashline B
FP Essent 2019 Jun;481:23-27. PMID: 31188549
Bonnet-Serrano F, Bertherat J
Endocr Relat Cancer 2018 Mar;25(3):R131-R152. Epub 2017 Dec 12 doi: 10.1530/ERC-17-0361. PMID: 29233839
Notay M, Kamangar F, Awasthi S, Fazel N
Pediatr Dermatol 2017 Mar;34(2):e97-e98. Epub 2017 Jan 25 doi: 10.1111/pde.13067. PMID: 28120347
Müller OA, von Werder K
J Steroid Biochem Mol Biol 1992 Oct;43(5):403-8. doi: 10.1016/0960-0760(92)90076-u. PMID: 1327073

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