Vitiligo and dysgammaglobulinemia. A case report and family study

Bader, Patricia I.; Biegel, Angenieta A.; Epinette, Warren W.; Nance, Walter E.

doi:10.1111/j.1399-0004.1975.tb00363.x

Cited by 15 publications

(2 citation statements)

References 44 publications

(33 reference statements)

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“…With an unknown prevalence and unclarified mode of inheritance, VAMAS1 features patchy depigmentation of the hair and skin due to the loss of melanocytes, SNHI in certain cases, and a propensity of developing autoimmune thyroid disease, rheumatoid arthritis, and systemic lupus erythematosus [17,124]. The pathogenic variant p.L155H of NLRP1 has been identified to cause VAMAS1 [125].…”

Section: Vitiligo-associated Multiple Autoimmune Disease Susceptibilimentioning

confidence: 99%

Hereditary Hearing Impairment with Cutaneous Abnormalities

Lee

Lin

Chen

et al. 2020

Genes

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Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications. Our in-depth analyses revealed that the cutaneous manifestations associated with HHI could be classified into three categories: pigment, hyperkeratosis/nail, and connective tissue disorders, with each category involving distinct molecular pathogenesis mechanisms. This outline could help clinicians and researchers build a clear atlas regarding the phenotypic features and pathogenetic mechanisms of syndromic HHI with cutaneous abnormalities, and facilitate clinical and molecular diagnoses of these conditions.

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Section: Vitiligo-associated Multiple Autoimmune Disease Susceptibilimentioning

confidence: 99%

Hereditary Hearing Impairment with Cutaneous Abnormalities

Lee

Lin

Chen

et al. 2020

Genes

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“…There have been a number of reports of associations of LP with vitiligo and various autoimmune disorders. The association of vitiligo with IgA deficiency has also been reported10–12; however, there are a limited number of reports to assess this association. In 2 different studies, it was noted that serum levels of IgA in patients with LP were depressed 13,14 .…”

mentioning

confidence: 97%

Colocalization of Lichen Planus and Vitiligo Associated With Selective IgA Deficiency

Gül

Soylu

Demiriz³

2007

Skinmed

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A 28-year-old man with a diagnosis of vitiligo universalis for 6 years presented with reddish polygonal papules that had developed on his left hand first and then on his right hand. On dermatologic examination, porcelain-white hypopigmented appearance was observed all over his body, and there were violaceous, flat-topped papules changing from 2 to 5 mm in diameter localized on the hypopigmented areas of the dorsum of both hands and flexor sites (Figure 1). The physical examination and laboratory investigations including hemogram, erythrocyte sedimentation rate, serum biochemistry, and urinanalysis were normal. Antibodies to thyroid tissue, hepatitis viruses, human immunodeficiency virus, nuclear, and streptolysine were negative. Repeated IgA levels in serum were found to be decreased; however, the other immunoglobulins (IgG, IgM) and C3, C4 and cryoglobulins were in normal ranges. Histopathologic examination of the polygonal papules revealed hyperkeratosis, focal thickening of the granular layer, and irregular acanthosis in triangular saw-tooth pattern. The basal layer was invaded by the lymphocytic inflammatory infiltrate and had numerous necrotic keratinocytes. The infiltrate in the upper dermis was band-like and sharply demarcated at its lower border. There were also a few melanophages in the upper dermis. Melanocytes were decreased in number, and in some areas they were absent at the basal layer of epidermis. Clinical and histopathologic diagnosis were consistent with lichen planus and vitiligo (Figure 2).

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Vitiligo. Clinical picture and pathogenesis

McBurney¹

1979

Archives of Internal Medicine

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Vitiligo and dysgammaglobulinemia. A case report and family study

Cited by 15 publications

References 44 publications

Hereditary Hearing Impairment with Cutaneous Abnormalities

Hereditary Hearing Impairment with Cutaneous Abnormalities

Colocalization of Lichen Planus and Vitiligo Associated With Selective IgA Deficiency

Vitiligo. Clinical picture and pathogenesis

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