Vitiligo is an acquired pigmentary disorder characterized by loss of melanocytes. Vitiligo can appear at any time from birth into adulthood, with most patients developing vitiligo before the third decade of life. A family history of vitiligo is noted in 30%-40% of cases. Onset during infancy is rare, and congenital vitiligo with presentation at birth is even rarer.

Vitiligo typically manifests as patterned white skin patches arising anywhere on the body but more commonly symmetrically in areas of frequent trauma, particularly on the face, upper chest, hands, elbows, knees, axillae, and perineum.

Due to the rare nature of the condition and lack of data, the etiology and progression of vitiligo are unknown. Varying hypotheses exist in the literature, including autoimmune, genetic, neural, autocytotoxic, or metabolic processes. It is thought that environmental factors might contribute to pathogenesis in genetically susceptible individuals. Genetic studies have shown candidate genes such as PTPN22. HLA seems to play a role in the pathogenesis of vitiligo. Studies have also revealed that XBP1, FOXP3, and TSLP can be associated with vitiligo.

Little is known as to why vitiligo presents at different ages and what factors might predispose individuals to develop lesions earlier on. It is thought that the immune attack might start in utero in genetically predisposed individuals and only presents clinically under the influence of other epidemiologic factors.

Congenital vitiligo with presentation at birth has been reported fewer than 10 times in the literature. One case reported a 2-month-old boy with vitiligo since birth born to 2 HIV-infected parents who were undergoing antiretroviral therapy for several years. Segmental vitiligo was reported in a 1-year-old boy with infantile generalized pustular psoriasis after 3 weeks of treatment with acitretin, with repigmentation once switched to secukinumab. Infantile vitiligo has been reported in a 5-month-old boy with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) with associated alopecia, and chronic diarrhea.

Vitiligo is linked to the co-occurrence of autoimmune diseases, including diabetes mellitus type 1, pernicious anemia, autoimmune thyroid disease, inflammatory bowel disease, Addison disease, alopecia areata, psoriasis, celiac disease, rheumatoid arthritis, systemic lupus erythematosus, Sjögren syndrome, and myasthenia gravis. A number of susceptibility loci seen in vitiligo are shared with these conditions.