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Familial generalized lentiginosis

MedGen UID:
486897
•Concept ID:
C3492944
•
Disease or Syndrome
Synonyms: LENTIGINOSIS PROFUSA; LENTIGINOSIS, DIFFUSE; LENTIGINOSIS, GENERALIZED; Lentiginosis, inherited patterned
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Autosomal dominant inheritance (Orphanet)
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007891
OMIM®: 151001
Orphanet: ORPHA231040

Definition

Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. [from ORDO]

Clinical features

From HPO
Hypermelanotic macule
MedGen UID:
375013
•Concept ID:
C1842774
•
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial generalized lentiginosis

Professional guidelines

PubMed

Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases.
Xu ZX, Jiang LX, Chen YR, Zhang YH, Zhang Z, Yu PF, Dong ZW, Yang HR, Gu GL
World J Gastroenterol 2023 Mar 14;29(10):1627-1637. doi: 10.3748/wjg.v29.i10.1627. PMID: 36970589Free PMC Article
Guidelines of care for the management of primary cutaneous melanoma.
Swetter SM, Tsao H, Bichakjian CK, Curiel-Lewandrowski C, Elder DE, Gershenwald JE, Guild V, Grant-Kels JM, Halpern AC, Johnson TM, Sober AJ, Thompson JA, Wisco OJ, Wyatt S, Hu S, Lamina T
J Am Acad Dermatol 2019 Jan;80(1):208-250. Epub 2018 Nov 1 doi: 10.1016/j.jaad.2018.08.055. PMID: 30392755
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.
Daniell J, Plazzer JP, Perera A, Macrae F
Fam Cancer 2018 Jul;17(3):421-427. doi: 10.1007/s10689-017-0037-3. PMID: 28900777

Recent clinical studies

Etiology

Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases.
Xu ZX, Jiang LX, Chen YR, Zhang YH, Zhang Z, Yu PF, Dong ZW, Yang HR, Gu GL
World J Gastroenterol 2023 Mar 14;29(10):1627-1637. doi: 10.3748/wjg.v29.i10.1627. PMID: 36970589Free PMC Article
Colorectal polyps in childhood.
Thakkar K, Fishman DS, Gilger MA
Curr Opin Pediatr 2012 Oct;24(5):632-7. doi: 10.1097/MOP.0b013e328357419f. PMID: 22890064
Hereditary colon cancer syndromes.
Gala M, Chung DC
Semin Oncol 2011 Aug;38(4):490-9. doi: 10.1053/j.seminoncol.2011.05.003. PMID: 21810508
Lessons from the skin--cutaneous features of familial cancer.
Winship IM, Dudding TE
Lancet Oncol 2008 May;9(5):462-72. doi: 10.1016/S1470-2045(08)70126-8. PMID: 18452857
Gastrointestinal polyposis syndromes.
Brosens LA, van Hattem WA, Jansen M, de Leng WW, Giardiello FM, Offerhaus GJ
Curr Mol Med 2007 Feb;7(1):29-46. doi: 10.2174/156652407779940404. PMID: 17311531

Diagnosis

Clinical features, diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases.
Xu ZX, Jiang LX, Chen YR, Zhang YH, Zhang Z, Yu PF, Dong ZW, Yang HR, Gu GL
World J Gastroenterol 2023 Mar 14;29(10):1627-1637. doi: 10.3748/wjg.v29.i10.1627. PMID: 36970589Free PMC Article
Guidelines of care for the management of primary cutaneous melanoma.
Swetter SM, Tsao H, Bichakjian CK, Curiel-Lewandrowski C, Elder DE, Gershenwald JE, Guild V, Grant-Kels JM, Halpern AC, Johnson TM, Sober AJ, Thompson JA, Wisco OJ, Wyatt S, Hu S, Lamina T
J Am Acad Dermatol 2019 Jan;80(1):208-250. Epub 2018 Nov 1 doi: 10.1016/j.jaad.2018.08.055. PMID: 30392755
Colorectal polyps in childhood.
Thakkar K, Fishman DS, Gilger MA
Curr Opin Pediatr 2012 Oct;24(5):632-7. doi: 10.1097/MOP.0b013e328357419f. PMID: 22890064
Hereditary colon cancer syndromes.
Gala M, Chung DC
Semin Oncol 2011 Aug;38(4):490-9. doi: 10.1053/j.seminoncol.2011.05.003. PMID: 21810508
Gastrointestinal polyposis syndromes.
Brosens LA, van Hattem WA, Jansen M, de Leng WW, Giardiello FM, Offerhaus GJ
Curr Mol Med 2007 Feb;7(1):29-46. doi: 10.2174/156652407779940404. PMID: 17311531

Therapy

Risk factors for subsequent primary melanoma in patients with previous melanoma: a systematic review and meta-analysis.
Smith J, Cust AE, Lo SN
Br J Dermatol 2024 Jan 23;190(2):174-183. doi: 10.1093/bjd/ljad275. PMID: 37562043
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.
Daniell J, Plazzer JP, Perera A, Macrae F
Fam Cancer 2018 Jul;17(3):421-427. doi: 10.1007/s10689-017-0037-3. PMID: 28900777
Colorectal polyps in childhood.
Thakkar K, Fishman DS, Gilger MA
Curr Opin Pediatr 2012 Oct;24(5):632-7. doi: 10.1097/MOP.0b013e328357419f. PMID: 22890064
Precursors to skin cancer.
Sober AJ, Burstein JM
Cancer 1995 Jan 15;75(2 Suppl):645-50. doi: 10.1002/1097-0142(19950115)75:2+<645::aid-cncr2820751405>3.0.co;2-1. PMID: 7804989
Risk factors for cutaneous melanoma. A practical method of recognizing predisposed individuals.
Rhodes AR, Weinstock MA, Fitzpatrick TB, Mihm MC Jr, Sober AJ
JAMA 1987 Dec 4;258(21):3146-54. PMID: 3312689

Prognosis

Holistic Patient Assessment: Dermatology in Dental Practice.
Chapireau D, Bashir SJ, Fan K
Prim Dent J 2020 Mar;9(1):37-42. doi: 10.1177/2050168420911028. PMID: 32519610
Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.
Gilad O, Rosner G, Fliss-Isakov N, Aharon-Kaspi S, Strul H, Gluck N, Kariv R
Clin Transl Gastroenterol 2019 May 22;10(5):1-9. doi: 10.14309/ctg.0000000000000035. PMID: 31107726Free PMC Article
Genetic alterations in sporadic and hereditary colorectal cancer: implementations for screening and follow-up.
Souglakos J
Dig Dis 2007;25(1):9-19. doi: 10.1159/000099166. PMID: 17384504
Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes.
Stratakis CA
J Endocrinol Invest 2001 May;24(5):370-83. doi: 10.1007/BF03343875. PMID: 11407658
The molecular basis and clinical aspects of Peutz-Jeghers syndrome.
Hemminki A
Cell Mol Life Sci 1999 May;55(5):735-50. doi: 10.1007/s000180050329. PMID: 10379360

Clinical prediction guides

Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.
Gilad O, Rosner G, Fliss-Isakov N, Aharon-Kaspi S, Strul H, Gluck N, Kariv R
Clin Transl Gastroenterol 2019 May 22;10(5):1-9. doi: 10.14309/ctg.0000000000000035. PMID: 31107726Free PMC Article
Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome.
Chen C, Zhang X, Wang D, Wang F, Pan J, Wang Z, Liu C, Wu L, Lu H, Li N, Wei J, Shi H, Wan H, Zhu M, Chen S, Zhou Y, Zhou X, Yang L, Liu J
Med Sci Monit 2016 Oct 10;22:3628-3640. doi: 10.12659/msm.897498. PMID: 27721366Free PMC Article
CLINICAL, EPIDEMIOLOGIC, AND ENDOSCOPIC PROFILE IN CHILDREN AND ADOLESCENTS WITH COLONIC POLYPS IN TWO REFERENCE CENTERS.
Andrade DO, Ferreira AR, Bittencourt PF, Ribeiro DF, Silva RG, Alberti LR
Arq Gastroenterol 2015 Dec;52(4):303-10. doi: 10.1590/S0004-28032015000400010. PMID: 26840472
Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML
BMC Med Genet 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. PMID: 26467218Free PMC Article
LKB1; linking cell structure and tumor suppression.
Hezel AF, Bardeesy N
Oncogene 2008 Nov 24;27(55):6908-19. doi: 10.1038/onc.2008.342. PMID: 19029933

Recent systematic reviews

Risk factors for subsequent primary melanoma in patients with previous melanoma: a systematic review and meta-analysis.
Smith J, Cust AE, Lo SN
Br J Dermatol 2024 Jan 23;190(2):174-183. doi: 10.1093/bjd/ljad275. PMID: 37562043

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