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Generalized hyperpigmentation

MedGen UID:
870432
Concept ID:
C4024878
Finding
Synonym: Generalised hyperpigmentation
 
HPO: HP:0007440

Conditions with this feature

Glucocorticoid deficiency 1
MedGen UID:
885551
Concept ID:
C4049650
Disease or Syndrome
Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and, because of the failure of the negative feedback loop to the pituitary and hypothalamus, grossly elevated ACTH levels (summary by Clark et al., 2009). Genetic Heterogeneity of Familial Glucocorticoid Deficiency Familial glucocorticoid deficiency-2 (GCCD2; 607398) is caused by mutation in the MRAP gene (609196) on chromosome 21q22. GCCD3 (609197) has been mapped to chromosome 8q11.2-q13.2. GCCD4 with or without mineralocorticoid deficiency (614736) is caused by mutation in the NNT gene (607878) on chromosome 5p12. GCCD5 (617825) is caused by mutation in the TXNRD2 gene (606448) on chromosome 22q11.
Amyloidosis, primary localized cutaneous, 3
MedGen UID:
1640641
Concept ID:
C4554421
Disease or Syndrome
Amyloidosis cutis dyschromica (ACD), a rare form of primary localized cutaneous amyloidosis, is a pigmentary disorder in which keratinocyte-derived amyloid is deposited in the skin. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. ACD can be distinguished from other conditions with similar clinical findings by a skin biopsy in which amyloid deposition in the papillary dermis is seen. Specific features that set ACD apart from the more common macular and lichenoid variants of primary cutaneous amyloidosis include dotted, reticular, or diffuse hyperpigmentation admixed with lentil-sized hypopigmented macules; mild or no associated pruritus; and, on histologic examination of skin from both hyper- and hypopigmented lesions, amyloid deposition confined to the papillary dermis, in close proximity to the epidermis (Huang et al. (2009); Mahon et al., 2016). For a discussion of genetic heterogeneity of primary localized cutaneous amyloidosis, see 105250.

Professional guidelines

PubMed

Thawabteh AM, Jibreen A, Karaman D, Thawabteh A, Karaman R
Molecules 2023 Jun 18;28(12) doi: 10.3390/molecules28124839. PMID: 37375394Free PMC Article
Lee YS, Lee YJ, Lee JM, Han TY, Lee JH, Choi JE
Medicina (Kaunas) 2022 Jul 14;58(7) doi: 10.3390/medicina58070936. PMID: 35888655Free PMC Article
Plensdorf S, Livieratos M, Dada N
Am Fam Physician 2017 Dec 15;96(12):797-804. PMID: 29431372

Recent clinical studies

Etiology

Gupta J, Chowdhury SR, Jauhari P, Ragunathan K, Chakrabarty B, Jain V, Gulati S
Neurology 2024 Feb 27;102(4):e208049. Epub 2024 Jan 25 doi: 10.1212/WNL.0000000000208049. PMID: 38271654
Kaur S, Goraya JS
Pediatr Dermatol 2018 Nov;35(6):796-799. Epub 2018 Oct 11 doi: 10.1111/pde.13679. PMID: 30307060
Rao G, Khan YZ, Chitnis DS
Indian Pediatr 2008 Mar;45(3):240-2. PMID: 18367775
Jing W
J Dermatol 2000 Apr;27(4):225-32. doi: 10.1111/j.1346-8138.2000.tb02156.x. PMID: 10824485
Jing W, Ismail R
Int J Dermatol 1999 Jun;38(6):457-63. doi: 10.1046/j.1365-4362.1999.00644.x. PMID: 10397587

Diagnosis

Keorochana N, Suleesathira B, Vongkulsiri S
Medicine (Baltimore) 2023 Jun 30;102(26):e33958. doi: 10.1097/MD.0000000000033958. PMID: 37390266Free PMC Article
Kaur S, Goraya JS
Pediatr Dermatol 2018 Nov;35(6):796-799. Epub 2018 Oct 11 doi: 10.1111/pde.13679. PMID: 30307060
Yang CF, Lin SP, Chiang CP, Wu YH, H'ng WS, Chang CP, Chen YT, Wu JY
Am J Hum Genet 2018 Feb 1;102(2):219-232. Epub 2018 Jan 11 doi: 10.1016/j.ajhg.2017.12.012. PMID: 29336782Free PMC Article
Basagiannis CS, Panagoulias GS, Tentolouris N, Basoukeas S, Sambaziotis D, Ladas SD
South Med J 2010 Apr;103(4):353-6. doi: 10.1097/SMJ.0b013e3181d3949c. PMID: 20224490
Fistarol SK, Itin PH
J Dtsch Dermatol Ges 2010 Mar;8(3):187-201; quiz 201-2. Epub 2009 Sep 24 doi: 10.1111/j.1610-0387.2009.07137.x. PMID: 19788584

Therapy

Ranawaka N, Welikumbura NH
Indian J Tuberc 2021 Jul;68(3):405-407. Epub 2020 Aug 6 doi: 10.1016/j.ijtb.2020.08.005. PMID: 34099210
Kaur S, Goraya JS
Pediatr Dermatol 2018 Nov;35(6):796-799. Epub 2018 Oct 11 doi: 10.1111/pde.13679. PMID: 30307060
Vennepureddy A, Siddique MN, Odaimi M, Terjanian T
J Oncol Pharm Pract 2016 Jun;22(3):556-60. Epub 2015 Apr 8 doi: 10.1177/1078155215580468. PMID: 25855241
Basagiannis CS, Panagoulias GS, Tentolouris N, Basoukeas S, Sambaziotis D, Ladas SD
South Med J 2010 Apr;103(4):353-6. doi: 10.1097/SMJ.0b013e3181d3949c. PMID: 20224490
Chesney TM, Wardlaw LL, Kaplan RJ, Chow JF
J Am Acad Dermatol 1981 Jan;4(1):64-6. doi: 10.1016/s0190-9622(81)70010-0. PMID: 7204691

Prognosis

Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA
Am J Med Genet A 2006 Jan 1;140(1):8-16. doi: 10.1002/ajmg.a.31078. PMID: 16372351
Uyttendaele H, Koss T, Bagheri B, Schneiderman P, Silfen ME, Gallagher MP, Garzon M, Engler D
Pediatr Dermatol 2003 May-Jun;20(3):254-6. doi: 10.1046/j.1525-1470.2003.20314.x. PMID: 12787277
Supornsilchai V, Wacharasindhu S, Desudchit T
J Med Assoc Thai 2002 Jun;85 Suppl 1:S286-92. PMID: 12188425
Jing W
J Dermatol 2000 Apr;27(4):225-32. doi: 10.1111/j.1346-8138.2000.tb02156.x. PMID: 10824485
Jing W, Ismail R
Int J Dermatol 1999 Jun;38(6):457-63. doi: 10.1046/j.1365-4362.1999.00644.x. PMID: 10397587

Clinical prediction guides

Yang CF, Lin SP, Chiang CP, Wu YH, H'ng WS, Chang CP, Chen YT, Wu JY
Am J Hum Genet 2018 Feb 1;102(2):219-232. Epub 2018 Jan 11 doi: 10.1016/j.ajhg.2017.12.012. PMID: 29336782Free PMC Article
Loh TY, Cohen PR
Dermatol Online J 2017 Apr 15;23(4) PMID: 28541873
Cogulu O, Durmaz B, Wollnik B, Durmaz A, Darcan S, Ozkinay F
Genet Couns 2012;23(2):281-7. PMID: 22876588
Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA
Am J Med Genet A 2006 Jan 1;140(1):8-16. doi: 10.1002/ajmg.a.31078. PMID: 16372351
Intragumtornchai T, Phanthumchinda K, Lerdlum S, Supmpathanukul P, Sakulramrung R
J Med Assoc Thai 1993 Oct;76(10):585-90. PMID: 7964231

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