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Familial progressive hyperpigmentation

MedGen UID:
976513
Concept ID:
CN293905
Disease or Syndrome
Synonyms: familial progressive hyperpigmentation; Fph; FPH1; hyperpigmentation, familial progressive, 1; Melanosis diffusa congenita; melanosis diffusa congenita; Melanosis universalis hereditaria; melanosis universalis hereditaria; Universal melanosis; universal melanosis
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.
 
Monarch Initiative: MONDO:0013648
Orphanet: ORPHA79146

Definition

Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial progressive hyperpigmentation

Recent clinical studies

Etiology

Zhang J, Li M, Yao Z
Mol Med Rep 2016 Nov;14(5):4023-4029. Epub 2016 Sep 22 doi: 10.3892/mmr.2016.5760. PMID: 27666661Free PMC Article
Chernosky ME, Anderson DE, Chang JP, Shaw MW, Romsdahl MM
Arch Dermatol 1971 Jun;103(6):581-91 passim. PMID: 4326548

Diagnosis

Kato M, Yagami A, Tsukamoto T, Shinkai Y, Kato T, Kurahashi H
J Dermatol 2020 Jun;47(6):669-672. Epub 2020 Mar 18 doi: 10.1111/1346-8138.15313. PMID: 32189379
Zhang J, Li M, Yao Z
Mol Med Rep 2016 Nov;14(5):4023-4029. Epub 2016 Sep 22 doi: 10.3892/mmr.2016.5760. PMID: 27666661Free PMC Article
Chernosky ME, Anderson DE, Chang JP, Shaw MW, Romsdahl MM
Arch Dermatol 1971 Jun;103(6):581-91 passim. PMID: 4326548

Prognosis

Wang ZQ, Si L, Tang Q, Lin D, Fu Z, Zhang J, Cui B, Zhu Y, Kong X, Deng M, Xia Y, Xu H, Le W, Hu L, Kong X
Am J Hum Genet 2009 May;84(5):672-7. Epub 2009 Apr 16 doi: 10.1016/j.ajhg.2009.03.019. PMID: 19375057Free PMC Article

Clinical prediction guides

Vona B, Schwartzbaum DA, Rodriguez AA, Lewis SS, Toosi MB, Radhakrishnan P, Bozan N, Akın R, Doosti M, Manju R, Duman D, Sineni CJ, Nampoothiri S, Karimiani EG, Houlden H, Bademci G, Tekin M, Girisha KM, Maroofian R, Douzgou S
J Eur Acad Dermatol Venereol 2022 Sep;36(9):1606-1611. Epub 2022 May 25 doi: 10.1111/jdv.18207. PMID: 35543077Free PMC Article
Wang T, Li H, Dong Y, Hu M, She Q, Deng Y
J Cutan Pathol 2017 Nov;44(11):948-950. Epub 2017 Sep 4 doi: 10.1111/cup.13012. PMID: 28749546
Amyere M, Vogt T, Hoo J, Brandrup F, Bygum A, Boon L, Vikkula M
J Invest Dermatol 2011 Jun;131(6):1234-9. Epub 2011 Mar 3 doi: 10.1038/jid.2011.29. PMID: 21368769
Wang ZQ, Si L, Tang Q, Lin D, Fu Z, Zhang J, Cui B, Zhu Y, Kong X, Deng M, Xia Y, Xu H, Le W, Hu L, Kong X
Am J Hum Genet 2009 May;84(5):672-7. Epub 2009 Apr 16 doi: 10.1016/j.ajhg.2009.03.019. PMID: 19375057Free PMC Article

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