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Hyperpigmentation with or without hypopigmentation, familial progressive(MUH; FPH2, FORMERLY; FPHH)

MedGen UID:
333550
Concept ID:
C1840392
Disease or Syndrome
Synonyms: Congenital hypomelanotic and hypermelanotic macules; Hyperpigmentation, familial progressive, 2; MELANOSIS UNIVERSALIS HEREDITARIA
SNOMED CT: Familial progressive hyperpigmentation (715630006); Melanosis diffusa congenita (715630006); Melanosis universalis hereditaria (715630006); Universal melanosis (715630006)
 
Gene (location): KITLG (12q21.32)
 
Monarch Initiative: MONDO:0007771
OMIM®: 145250

Definition

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). [from OMIM]

Clinical features

From HPO
Vitiligo
MedGen UID:
22677
Concept ID:
C0042900
Disease or Syndrome
Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the epidermis involving the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Multiple lentigines
MedGen UID:
272242
Concept ID:
C1328931
Disease or Syndrome
Presence of an unusually high number of lentigines (singular
Hypopigmented skin patches
MedGen UID:
373164
Concept ID:
C1836735
Finding
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.
Progressive hyperpigmentation
MedGen UID:
870414
Concept ID:
C4024859
Pathologic Function

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Neagu N, Conforti C, Agozzino M, Marangi GF, Morariu SH, Pellacani G, Persichetti P, Piccolo D, Segreto F, Zalaudek I, Dianzani C
J Dermatolog Treat 2022 Jun;33(4):1816-1837. Epub 2022 Mar 23 doi: 10.1080/09546634.2021.1914313. PMID: 33849384
Shenoy A, Madan R
J Drugs Dermatol 2020 Aug 1;19(8):763-768. doi: 10.36849/JDD.2020.4887. PMID: 32845587
Friedmann DP, Goldman MP
Clin Plast Surg 2015 Jan;42(1):33-50. doi: 10.1016/j.cps.2014.08.007. PMID: 25440739

Recent clinical studies

Etiology

Shen A, Cheng CE, Malik R, Mark E, Vecerek N, Maloney N, Leavens J, Nambudiri VE, Saavedra AP, Hogeling M, Worswick S
J Am Acad Dermatol 2023 Aug;89(2):376-378. Epub 2023 Mar 30 doi: 10.1016/j.jaad.2023.03.034. PMID: 37001731
Ko D, Wang RF, Ozog D, Lim HW, Mohammad TF
J Am Acad Dermatol 2023 Feb;88(2):291-320. Epub 2022 Feb 12 doi: 10.1016/j.jaad.2021.12.065. PMID: 35158001
Elbuluk N, Grimes P, Chien A, Hamzavi I, Alexis A, Taylor S, Gonzalez N, Weiss J, Desai SR, Kang S
Am J Clin Dermatol 2021 Nov;22(6):829-836. Epub 2021 Sep 1 doi: 10.1007/s40257-021-00633-4. PMID: 34468934
Artzi O, Horovitz T, Bar-Ilan E, Shehadeh W, Koren A, Zusmanovitch L, Mehrabi JN, Salameh F, Isman Nelkenbaum G, Zur E, Sprecher E, Mashiah J
J Cosmet Dermatol 2021 Nov;20(11):3432-3445. Epub 2021 Aug 19 doi: 10.1111/jocd.14382. PMID: 34411403
Unal E, Guarneri C, Chokoeva AA, Wollina U, Tchernev G
Wien Med Wochenschr 2017 Mar;167(3-4):66-69. Epub 2016 Oct 21 doi: 10.1007/s10354-016-0519-1. PMID: 27770322

Diagnosis

Syder NC, Quarshie C, Elbuluk N
Dermatol Clin 2023 Jul;41(3):393-405. Epub 2023 Apr 14 doi: 10.1016/j.det.2023.02.005. PMID: 37236709
Wang RF, Ko D, Friedman BJ, Lim HW, Mohammad TF
J Am Acad Dermatol 2023 Feb;88(2):271-288. Epub 2022 Feb 11 doi: 10.1016/j.jaad.2022.01.051. PMID: 35151757
Syder N, Sicco K, Gutierrez D
J Drugs Dermatol 2022 Mar 1;21(3):324-330. doi: 10.36849/JDD.6454. PMID: 35254753
Doolan BJ, Gupta M
Aust J Gen Pract 2021 Dec;50(12):880-885. doi: 10.31128/AJGP-05-21-6002. PMID: 34845463
Plensdorf S, Livieratos M, Dada N
Am Fam Physician 2017 Dec 15;96(12):797-804. PMID: 29431372

Therapy

Nautiyal A, Wairkar S
Pigment Cell Melanoma Res 2021 Nov;34(6):1000-1014. Epub 2021 Jun 3 doi: 10.1111/pcmr.12986. PMID: 33998768
Searle T, Al-Niaimi F, Ali FR
Dermatol Ther 2020 Nov;33(6):e14095. Epub 2020 Sep 4 doi: 10.1111/dth.14095. PMID: 32720446
Plensdorf S, Livieratos M, Dada N
Am Fam Physician 2017 Dec 15;96(12):797-804. PMID: 29431372
Unal E, Guarneri C, Chokoeva AA, Wollina U, Tchernev G
Wien Med Wochenschr 2017 Mar;167(3-4):66-69. Epub 2016 Oct 21 doi: 10.1007/s10354-016-0519-1. PMID: 27770322
Sonthalia S, Daulatabad D, Sarkar R
Indian J Dermatol Venereol Leprol 2016 May-Jun;82(3):262-72. doi: 10.4103/0378-6323.179088. PMID: 27088927

Prognosis

Armenta AM, Henkel ED, Ahmed AM
Drugs Aging 2019 Mar;36(3):235-245. doi: 10.1007/s40266-018-00633-w. PMID: 30637685
Wiznia LE, Cohen JM, Beasley JM, Meehan SA, Latkowski JM
Dermatol Online J 2018 Dec 15;24(12) PMID: 30677799
Robles-Méndez JC, Rizo-Frías P, Herz-Ruelas ME, Pandya AG, Ocampo Candiani J
Int J Dermatol 2018 May;57(5):505-514. Epub 2017 Oct 26 doi: 10.1111/ijd.13806. PMID: 29076159
Chaowattanapanit S, Silpa-Archa N, Kohli I, Lim HW, Hamzavi I
J Am Acad Dermatol 2017 Oct;77(4):607-621. doi: 10.1016/j.jaad.2017.01.036. PMID: 28917452
Perales-Martínez DE, Moncada B, Rolón-Padilla A, Chávez-López MA
Reumatol Clin 2012 Jul-Aug;8(4):227-8. Epub 2011 Dec 19 doi: 10.1016/j.reuma.2011.10.013. PMID: 22189157

Clinical prediction guides

Leung AKC, Lam JM, Barankin B, Leong KF, Hon KL
Curr Pediatr Rev 2022;19(1):68-82. doi: 10.2174/1573396318666220429085231. PMID: 36698243
Artzi O, Horovitz T, Bar-Ilan E, Shehadeh W, Koren A, Zusmanovitch L, Mehrabi JN, Salameh F, Isman Nelkenbaum G, Zur E, Sprecher E, Mashiah J
J Cosmet Dermatol 2021 Nov;20(11):3432-3445. Epub 2021 Aug 19 doi: 10.1111/jocd.14382. PMID: 34411403
Nautiyal A, Wairkar S
Pigment Cell Melanoma Res 2021 Nov;34(6):1000-1014. Epub 2021 Jun 3 doi: 10.1111/pcmr.12986. PMID: 33998768
Spritz RA, Santorico SA
J Invest Dermatol 2021 Feb;141(2):265-273. Epub 2020 Aug 8 doi: 10.1016/j.jid.2020.06.004. PMID: 32778407
Gammon A, Jasperson K, Kohlmann W, Burt RW
Best Pract Res Clin Gastroenterol 2009;23(2):219-31. doi: 10.1016/j.bpg.2009.02.007. PMID: 19414148Free PMC Article

Recent systematic reviews

Leszczynski R, da Silva CA, Pinto ACPN, Kuczynski U, da Silva EM
Cochrane Database Syst Rev 2022 Sep 26;9(9):CD011642. doi: 10.1002/14651858.CD011642.pub2. PMID: 36161591Free PMC Article
Neagu N, Conforti C, Agozzino M, Marangi GF, Morariu SH, Pellacani G, Persichetti P, Piccolo D, Segreto F, Zalaudek I, Dianzani C
J Dermatolog Treat 2022 Jun;33(4):1816-1837. Epub 2022 Mar 23 doi: 10.1080/09546634.2021.1914313. PMID: 33849384
Michelle L, Pouldar Foulad D, Ekelem C, Saedi N, Mesinkovska NA
Dermatol Surg 2021 Jan 1;47(1):70-74. doi: 10.1097/DSS.0000000000002484. PMID: 32740208
McKesey J, Tovar-Garza A, Pandya AG
Am J Clin Dermatol 2020 Apr;21(2):173-225. doi: 10.1007/s40257-019-00488-w. PMID: 31802394
Bhate K, Williams HC
Br J Dermatol 2013 Mar;168(3):474-85. doi: 10.1111/bjd.12149. PMID: 23210645

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