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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).
Autosomal recessive inheritance (Orphanet)
 
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

Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports.
Meserve EE, Nucci MR
Surg Pathol Clin 2016 Jun;9(2):243-68. doi: 10.1016/j.path.2016.01.006. PMID: 27241107
Utility of lesion diameter in the clinical diagnosis of cutaneous melanoma.
Abbasi NR, Yancovitz M, Gutkowicz-Krusin D, Panageas KS, Mihm MC, Googe P, King R, Prieto V, Osman I, Friedman RJ, Rigel DS, Kopf AW, Polsky D
Arch Dermatol 2008 Apr;144(4):469-74. doi: 10.1001/archderm.144.4.469. PMID: 18427040
Primary adrenal causes of Cushing's syndrome. Diagnosis and surgical management.
Perry RR, Nieman LK, Cutler GB Jr, Chrousos GP, Loriaux DL, Doppman JL, Travis WD, Norton JA
Ann Surg 1989 Jul;210(1):59-68. doi: 10.1097/00000658-198907000-00010. PMID: 2742414Free PMC Article

Recent clinical studies

Etiology

Diseases Predisposing to Adrenocortical Malignancy (Li-Fraumeni Syndrome, Beckwith-Wiedemann Syndrome, and Carney Complex).
Jouinot A, Bertherat J
Exp Suppl 2019;111:149-169. doi: 10.1007/978-3-030-25905-1_9. PMID: 31588532
Skin Cancer: Precancers.
Bruner P, Bashline B
FP Essent 2019 Jun;481:23-27. PMID: 31188549
Familial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors.
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
Peutz-Jeghers syndrome.
Buck JL, Harned RK, Lichtenstein JE, Sobin LH
Radiographics 1992 Mar;12(2):365-78. doi: 10.1148/radiographics.12.2.1561426. PMID: 1561426
Hereditary gastrointestinal polyposis syndromes.
Haggitt RC, Reid BJ
Am J Surg Pathol 1986 Dec;10(12):871-87. doi: 10.1097/00000478-198612000-00006. PMID: 3024515

Diagnosis

Adrenal Cushing's syndrome in children.
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
Diseases of the lips.
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
Diseases of the tongue.
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
Dermoscopy: basic concepts.
Campos-do-Carmo G, Ramos-e-Silva M
Int J Dermatol 2008 Jul;47(7):712-9. doi: 10.1111/j.1365-4632.2008.03556.x. PMID: 18613881
Rare syndromes.
Jabbour SA, Davidovici BB, Wolf R
Clin Dermatol 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005. PMID: 16828412

Therapy

Maintenance therapy improves the survival outcomes of patients with metastatic nasopharyngeal carcinoma responding to first-line chemotherapy: a multicentre, randomized controlled clinical study.
Lu Y, Huang H, Yang H, Hu X, Liu M, Huang C, Feng X, Chen X, Jiang Z
J Cancer Res Clin Oncol 2023 Jul;149(8):4327-4338. Epub 2022 Sep 8 doi: 10.1007/s00432-022-04341-2. PMID: 36075994Free PMC Article
Infigratinib (BGJ398) in previously treated patients with advanced or metastatic cholangiocarcinoma with FGFR2 fusions or rearrangements: mature results from a multicentre, open-label, single-arm, phase 2 study.
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
Neuroimaging in infants and children in select neurocutaneous disorders.
Steele L, Shipman AR
Clin Exp Dermatol 2021 Apr;46(3):438-443. Epub 2020 Nov 12 doi: 10.1111/ced.14471. PMID: 33180972
How to Diagnose and Classify Tattoo Complications in the Clinic: A System of Distinctive Patterns.
Serup J
Curr Probl Dermatol 2017;52:58-73. Epub 2017 Mar 10 doi: 10.1159/000450780. PMID: 28288451
Molecular genetics of adrenocortical tumor formation and potential pharmacologic targets.
Rauschecker M, Stratakis CA
Minerva Endocrinol 2012 Jun;37(2):133-9. PMID: 22691887Free PMC Article

Prognosis

Cancer-associated retinopathy preceding the diagnosis of cancer.
Hoogewoud F, Butori P, Blanche P, Brézin AP
BMC Ophthalmol 2018 Nov 3;18(1):285. doi: 10.1186/s12886-018-0948-2. PMID: 30390655Free PMC Article
Genetics of tumors of the adrenal cortex.
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
Adrenocorticotropic hormone-independent Cushing's syndrome.
Bourdeau I, Lampron A, Costa MH, Tadjine M, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2007 Jun;14(3):219-25. doi: 10.1097/MED.0b013e32814db842. PMID: 17940443
Surgical management of Cushing's syndrome.
Imai T, Kikumori T, Funahashi H, Nakao A
Biomed Pharmacother 2000 Jun;54 Suppl 1:140s-145s. doi: 10.1016/s0753-3322(00)80031-1. PMID: 10915011
A concise genetic and clinical guide to multiple endocrine neoplasias and related syndromes.
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

Clinical Spectrum of Adrenal Cushing's Syndrome and the Caution for Interpretation of Adrenocorticotrophic Hormone: A Single-Center Experience.
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
Skin Cancer: Precancers.
Bruner P, Bashline B
FP Essent 2019 Jun;481:23-27. PMID: 31188549
Cancer-associated retinopathy preceding the diagnosis of cancer.
Hoogewoud F, Butori P, Blanche P, Brézin AP
BMC Ophthalmol 2018 Nov 3;18(1):285. doi: 10.1186/s12886-018-0948-2. PMID: 30390655Free PMC Article
Genetics of tumors of the adrenal cortex.
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
Ectopic production of ACTH and corticotropin-releasing hormone (CRH).
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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