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Progressive hyperpigmentation

MedGen UID:
870414
•Concept ID:
C4024859
•
Pathologic Function
HPO: HP:0007505

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive hyperpigmentation

Conditions with this feature

Hyperpigmentation with or without hypopigmentation, familial progressive
MedGen UID:
333550
•Concept ID:
C1840392
•
Disease or Syndrome
Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011). Also see familial progressive hyperpigmentation (FPH1; 614233).
See: Condition Record
Hyperpigmentation with or without hypopigmentation, familial progressive

Professional guidelines

PubMed

The stepwise approach to the treatment of melasma.
Perez MI
Cutis 2005 Apr;75(4):217-22. PMID: 15916218

Recent clinical studies

Etiology

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
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
A case of hyperpigmentation and acanthosis nigricans by testosterone injections.
Karadag A, Kavala M, Demir F, Turkoğlu Z, Kartal I, Zemheri E
Hum Exp Toxicol 2014 Dec;33(12):1297-301. Epub 2014 Feb 6 doi: 10.1177/0960327113514099. PMID: 24505054
Familial progressive hyperpigmentation.
Chernosky ME, Anderson DE, Chang JP, Shaw MW, Romsdahl MM
Arch Dermatol 1971 Jun;103(6):581-91 passim. PMID: 4326548

Diagnosis

Progressive Hyperpigmentation on the Face in a Skin of Color Woman: Answer.
Gosch ME, McMichael AJ, Niehaus AG, Sangüeza OP
Am J Dermatopathol 2024 Apr 1;46(4):255-256. doi: 10.1097/DAD.0000000000002671. PMID: 38488349
Progressive hyperpigmentation over hands and feet in a young male.
Pathania YS, Budania A
Pediatr Dermatol 2021 Jul;38(4):e28-e29. doi: 10.1111/pde.14666. PMID: 34448229
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
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
Novel autosomal recessive progressive hyperpigmentation syndrome.
Hüffmeier U, Hausser I, Reis A, Rauch A
Am J Med Genet A 2005 Jun 1;135(2):195-9. doi: 10.1002/ajmg.a.30668. PMID: 15852476
Familial progressive hyperpigmentation.
Chernosky ME, Anderson DE, Chang JP, Shaw MW, Romsdahl MM
Arch Dermatol 1971 Jun;103(6):581-91 passim. PMID: 4326548

Therapy

Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
Takeichi T, Hsu CK, Yang HS, Chen HY, Wong TW, Tsai WL, Chao SC, Lee JY, Akiyama M, Simpson MA, McGrath JA
Br J Dermatol 2015 Apr;172(4):1111-5. Epub 2015 Feb 27 doi: 10.1111/bjd.13413. PMID: 25234635
A case of hyperpigmentation and acanthosis nigricans by testosterone injections.
Karadag A, Kavala M, Demir F, Turkoğlu Z, Kartal I, Zemheri E
Hum Exp Toxicol 2014 Dec;33(12):1297-301. Epub 2014 Feb 6 doi: 10.1177/0960327113514099. PMID: 24505054
The stepwise approach to the treatment of melasma.
Perez MI
Cutis 2005 Apr;75(4):217-22. PMID: 15916218

Prognosis

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
Ali N, Maharaj AV, Buonocore F, Achermann JC, Metherell LA
Front Endocrinol (Lausanne) 2022;13:860055. Epub 2022 Mar 28 doi: 10.3389/fendo.2022.860055. PMID: 35418949Free PMC Article
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.
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
Ocular findings in xeroderma pigmentosum: report of two cases.
Stenson S
Ann Ophthalmol 1982 Jun;14(6):580-5. PMID: 7114695

Clinical prediction guides

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
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
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
Ali N, Maharaj AV, Buonocore F, Achermann JC, Metherell LA
Front Endocrinol (Lausanne) 2022;13:860055. Epub 2022 Mar 28 doi: 10.3389/fendo.2022.860055. PMID: 35418949Free PMC Article
Familial progressive hyperpigmentation: A family resurvey and ultrastructural skin investigation.
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
KITLG mutations cause familial progressive hyper- and hypopigmentation.
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
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.
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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