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Vitiligo

MedGen UID:
22677
Concept ID:
C0042900
Disease or Syndrome
Synonyms: Blotchy loss of skin color; Blotchy loss of skin colour; vitiligo
SNOMED CT: Vitiligo (56727007)
 
HPO: HP:0001045
Monarch Initiative: MONDO:0008661

Definition

Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. [from NCI]

Conditions with this feature

Stiff-man syndrome
MedGen UID:
39017
Concept ID:
C0085292
Disease or Syndrome
The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder.
Polyglandular autoimmune syndrome, type 1
MedGen UID:
39125
Concept ID:
C0085859
Disease or Syndrome
Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over longterm follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).
Hereditary spastic paraplegia 23
MedGen UID:
167094
Concept ID:
C0796019
Disease or Syndrome
Spastic paraplegia-23 (SPG23) is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by Lee et al., 2017).
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).
Spondyloenchondrodysplasia with immune dysregulation
MedGen UID:
375009
Concept ID:
C1842763
Disease or Syndrome
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Autoimmune disease, susceptibility to, 1
MedGen UID:
335848
Concept ID:
C1842979
Finding
Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.
Vitiligo-associated multiple autoimmune disease susceptibility 1
MedGen UID:
335788
Concept ID:
C1847835
Disease or Syndrome
Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010). Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease Susceptibility Additional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, 607836, associated with mutation in the FOXD3 gene, 611539), 7 (VAMAS3; 608391), 8 (VAMAS4; 608392), 4 (VAMAS5; 609400), and 6p21.3 (VAMAS6; 193200).
Ermine phenotype
MedGen UID:
346466
Concept ID:
C1856899
Disease or Syndrome
A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
Deafness-vitiligo-achalasia syndrome
MedGen UID:
347427
Concept ID:
C1857339
Disease or Syndrome
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.
Vitiligo-associated multiple autoimmune disease susceptibility 6
MedGen UID:
479331
Concept ID:
C3277701
Finding
Familial cold autoinflammatory syndrome 3
MedGen UID:
482544
Concept ID:
C3280914
Disease or Syndrome
Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).
Fanconi anemia complementation group P
MedGen UID:
854020
Concept ID:
C3469542
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Combined immunodeficiency due to LRBA deficiency
MedGen UID:
766426
Concept ID:
C3553512
Disease or Syndrome
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
MedGen UID:
1801342
Concept ID:
C5676971
Disease or Syndrome
Immunodeficiency-99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) is an autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment (Kuhny et al., 2020).

Professional guidelines

PubMed

Qi F, Liu F, Gao L
Front Immunol 2021;12:790125. Epub 2021 Nov 18 doi: 10.3389/fimmu.2021.790125. PMID: 34868078Free PMC Article
Frisoli ML, Essien K, Harris JE
Annu Rev Immunol 2020 Apr 26;38:621-648. Epub 2020 Feb 4 doi: 10.1146/annurev-immunol-100919-023531. PMID: 32017656
Plensdorf S, Livieratos M, Dada N
Am Fam Physician 2017 Dec 15;96(12):797-804. PMID: 29431372

Recent clinical studies

Etiology

Bergqvist C, Ezzedine K
J Dermatol 2021 Mar;48(3):252-270. Epub 2021 Jan 6 doi: 10.1111/1346-8138.15743. PMID: 33404102
Chen J, Li S, Li C
Med Res Rev 2021 Mar;41(2):1138-1166. Epub 2020 Nov 17 doi: 10.1002/med.21754. PMID: 33200838Free PMC Article
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
Speeckaert R, Lambert J, Bulat V, Belpaire A, Speeckaert M, van Geel N
Front Immunol 2020;11:568447. Epub 2020 Oct 27 doi: 10.3389/fimmu.2020.568447. PMID: 33193342Free PMC Article
Rodrigues M, Ezzedine K, Hamzavi I, Pandya AG, Harris JE; Vitiligo Working Group
J Am Acad Dermatol 2017 Jul;77(1):1-13. doi: 10.1016/j.jaad.2016.10.048. PMID: 28619550

Diagnosis

Marchioro HZ, Silva de Castro CC, Fava VM, Sakiyama PH, Dellatorre G, Miot HA
An Bras Dermatol 2022 Jul-Aug;97(4):478-490. Epub 2022 May 25 doi: 10.1016/j.abd.2021.09.008. PMID: 35643735Free PMC Article
Bergqvist C, Ezzedine K
Dermatology 2020;236(6):571-592. Epub 2020 Mar 10 doi: 10.1159/000506103. PMID: 32155629
Frisoli ML, Essien K, Harris JE
Annu Rev Immunol 2020 Apr 26;38:621-648. Epub 2020 Feb 4 doi: 10.1146/annurev-immunol-100919-023531. PMID: 32017656
Rodrigues M, Ezzedine K, Hamzavi I, Pandya AG, Harris JE; Vitiligo Working Group
J Am Acad Dermatol 2017 Jul;77(1):1-13. doi: 10.1016/j.jaad.2016.10.048. PMID: 28619550
Ezzedine K, Eleftheriadou V, Whitton M, van Geel N
Lancet 2015 Jul 4;386(9988):74-84. Epub 2015 Jan 15 doi: 10.1016/S0140-6736(14)60763-7. PMID: 25596811

Therapy

Rosmarin D, Passeron T, Pandya AG, Grimes P, Harris JE, Desai SR, Lebwohl M, Ruer-Mulard M, Seneschal J, Wolkerstorfer A, Kornacki D, Sun K, Butler K, Ezzedine K; TRuE-V Study Group
N Engl J Med 2022 Oct 20;387(16):1445-1455. doi: 10.1056/NEJMoa2118828. PMID: 36260792
Feng Y, Lu Y
Front Immunol 2022;13:986918. Epub 2022 Aug 31 doi: 10.3389/fimmu.2022.986918. PMID: 36119071Free PMC Article
Wenzel D, Haddadi NS, Afshari K, Richmond JM, Rashighi M
Immun Inflamm Dis 2021 Dec;9(4):1101-1145. Epub 2021 Jul 17 doi: 10.1002/iid3.475. PMID: 34272836Free PMC Article
Karagaiah P, Valle Y, Sigova J, Zerbinati N, Vojvodic P, Parsad D, Schwartz RA, Grabbe S, Goldust M, Lotti T
Expert Opin Emerg Drugs 2020 Mar;25(1):7-24. Epub 2020 Feb 3 doi: 10.1080/14728214.2020.1712358. PMID: 31958256
Damsky W, King BA
J Am Acad Dermatol 2017 Apr;76(4):736-744. Epub 2017 Jan 28 doi: 10.1016/j.jaad.2016.12.005. PMID: 28139263Free PMC Article

Prognosis

Böhm M, Schunter JA, Fritz K, Salavastru C, Dargatz S, Augustin M, Tanew A
J Dtsch Dermatol Ges 2022 Mar;20(3):365-378. Epub 2022 Mar 4 doi: 10.1111/ddg.14713. PMID: 35246935
Wenzel D, Haddadi NS, Afshari K, Richmond JM, Rashighi M
Immun Inflamm Dis 2021 Dec;9(4):1101-1145. Epub 2021 Jul 17 doi: 10.1002/iid3.475. PMID: 34272836Free PMC Article
Sibaud V
Am J Clin Dermatol 2018 Jun;19(3):345-361. doi: 10.1007/s40257-017-0336-3. PMID: 29256113
Rodrigues M, Ezzedine K, Hamzavi I, Pandya AG, Harris JE; Vitiligo Working Group
J Am Acad Dermatol 2017 Jul;77(1):1-13. doi: 10.1016/j.jaad.2016.10.048. PMID: 28619550
Ezzedine K, Eleftheriadou V, Whitton M, van Geel N
Lancet 2015 Jul 4;386(9988):74-84. Epub 2015 Jan 15 doi: 10.1016/S0140-6736(14)60763-7. PMID: 25596811

Clinical prediction guides

Bibeau K, Pandya AG, Ezzedine K, Jones H, Gao J, Lindley A, Harris JE
J Eur Acad Dermatol Venereol 2022 Oct;36(10):1831-1844. Epub 2022 Jun 14 doi: 10.1111/jdv.18257. PMID: 35611638Free PMC Article
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
Speeckaert R, Lambert J, Bulat V, Belpaire A, Speeckaert M, van Geel N
Front Immunol 2020;11:568447. Epub 2020 Oct 27 doi: 10.3389/fimmu.2020.568447. PMID: 33193342Free PMC Article
Kussainova A, Kassym L, Akhmetova A, Glushkova N, Sabirov U, Adilgozhina S, Tuleutayeva R, Semenova Y
PLoS One 2020;15(11):e0241445. Epub 2020 Nov 10 doi: 10.1371/journal.pone.0241445. PMID: 33170870Free PMC Article
Grimes PE, Nashawati R
Dermatol Clin 2017 Apr;35(2):235-243. doi: 10.1016/j.det.2016.11.012. PMID: 28317532

Recent systematic reviews

Kussainova A, Kassym L, Akhmetova A, Glushkova N, Sabirov U, Adilgozhina S, Tuleutayeva R, Semenova Y
PLoS One 2020;15(11):e0241445. Epub 2020 Nov 10 doi: 10.1371/journal.pone.0241445. PMID: 33170870Free PMC Article
Salloum A, Bazzi N, Maalouf D, Habre M
Dermatol Ther 2020 Nov;33(6):e14297. Epub 2020 Sep 23 doi: 10.1111/dth.14297. PMID: 32940387
Bae JM, Jung HM, Hong BY, Lee JH, Choi WJ, Lee JH, Kim GM
JAMA Dermatol 2017 Jul 1;153(7):666-674. doi: 10.1001/jamadermatol.2017.0002. PMID: 28355423Free PMC Article
Vaughn AR, Branum A, Sivamani RK
Phytother Res 2016 Aug;30(8):1243-64. Epub 2016 May 23 doi: 10.1002/ptr.5640. PMID: 27213821
Greco A, Fusconi M, Gallo A, Turchetta R, Marinelli C, Macri GF, De Virgilio A, de Vincentiis M
Autoimmun Rev 2013 Sep;12(11):1033-8. Epub 2013 Apr 6 doi: 10.1016/j.autrev.2013.01.004. PMID: 23567866

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