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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 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
Eichenfield DZ, Sprague J, Eichenfield LF
JAMA 2021 Nov 23;326(20):2055-2067. doi: 10.1001/jama.2021.17633. PMID: 34812859
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article

Recent clinical studies

Etiology

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
Lai D, Zhou S, Cheng S, Liu H, Cui Y
Lasers Med Sci 2022 Jun;37(4):2099-2110. Epub 2022 Feb 5 doi: 10.1007/s10103-022-03514-2. PMID: 35122202
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
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

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
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
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

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
Hou A, Cohen B, Haimovic A, Elbuluk N
Dermatol Surg 2017 Mar;43(3):321-339. doi: 10.1097/DSS.0000000000000924. PMID: 27755171
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

Sowash M, Alster T
Am J Clin Dermatol 2023 May;24(3):381-396. Epub 2023 Feb 13 doi: 10.1007/s40257-023-00759-7. PMID: 36781686
Zasada M, Budzisz E, Erkiert-Polguj A
Skin Pharmacol Physiol 2020;33(2):102-116. Epub 2020 May 19 doi: 10.1159/000508168. PMID: 32428912
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
Di Chiacchio N, Ruben BS, Loureiro WR
Clin Dermatol 2013 Sep-Oct;31(5):594-601. doi: 10.1016/j.clindermatol.2013.06.007. PMID: 24079589

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
Lai D, Zhou S, Cheng S, Liu H, Cui Y
Lasers Med Sci 2022 Jun;37(4):2099-2110. Epub 2022 Feb 5 doi: 10.1007/s10103-022-03514-2. PMID: 35122202
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

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
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
Kim HJ, Moon SH, Cho SH, Lee JD, Kim HS
Acta Derm Venereol 2017 Jul 6;97(7):776-781. doi: 10.2340/00015555-2668. PMID: 28374042
Bhate K, Williams HC
Br J Dermatol 2013 Mar;168(3):474-85. doi: 10.1111/bjd.12149. PMID: 23210645

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