Localized Lipoatrophia with Persistent Circulating Autoantibodies and Partial Immunoglobulin A Deficiency in a Child

Abstract

A 7-year-old Caucasian girl developed lipoatrophic areas on the abdomen and left thigh. Laboratory tests showed a partial IgA deficiency, circulating autoantibodies (ANAs, double- and single-stranded anti-DNAs, rheumatoid factor). The clinical aspect resembles lipodystrophia centrifugalis abdominalis infantilis, but autoimmune abnormalities suggest connective tissue panniculitis which underlines the overlap between the different forms of localized lipoatrophias.

Acquired idiopathic lipoatrophic panniculitis in a 12‐month‐old infant

“…Lipoatrophy is a term describing the lack of adipose tissue, which can be partial or generalised, and present at birth or acquired later in life . Lipoatrophic panniculitis is a rare condition affecting mainly children aged between 3 and 13 years of age . A characteristic form of lipoatrophic panniculitis localised to the ankles and described mainly in children has been named annular lipoatrophic panniculitis of the ankles .…”

“…It has been postulated that an autoimmune mechanism may be involved, as many of the reported cases of lipoatrophic panniculitis have shown an association with autoimmune disorders, including Hashimoto's thyroiditis, Graves' disease, juvenile rheumatoid arthritis, insulin‐dependent diabetes mellitus and alopecia areata . Circulating autoantibodies, namely ANA, have been demonstrated in some patients . Another report of lipoatrophic panniculitis in association with a chromosome 10 abnormality suggested a possible association with human pancreatic lipase gene, which maps to the same chromosome …”

Lipodystrophia centrifugalis abdominalis infantilis in a Caucasian girl: report of a case with perieccrine inflammation

“…In light of the uncommon location and atypical appearance of the lesion, the authors equivocated whether this lesion truly represented lipodystrophia centrifugalis abdominalis. 9 Although LCAI is considered an idiopathic condition, there have been reports of ANA positivity 18 in a few patients in absence of other supporting findings of connective tissue disease. Additionally, immunoglobulin A (IgA) deficiency has been reported in two cases 5,18 in the absence of IgA antigliadin or of a clinical history of gastrointestinal symptoms.…”

“…9 Although LCAI is considered an idiopathic condition, there have been reports of ANA positivity 18 in a few patients in absence of other supporting findings of connective tissue disease. Additionally, immunoglobulin A (IgA) deficiency has been reported in two cases 5,18 in the absence of IgA antigliadin or of a clinical history of gastrointestinal symptoms. 5 Other associations have included inguinal hernia, local bacterial infection, congenital dislocation of the hip 3 and acquired angioblastoma.…”

Associação de imunodeficiências primárias com doenças auto-imunes na infância

“…Essa associação tem sido raramente descrita na literatura. Tremeau-Martinage et al (25) descreveram um caso de um paciente de sete anos de idade com Def IgA, paniculite auto-imune e presença de múltiplos auto-anticorpos.…”