Lipoatrophic panniculitis and chromosome 10 abnormality

Abstract

We report a 3-year-old girl with a 12-month history of an acquired lipoatrophy that was rapidly progressive. Her karyotype revealed additional material on chromosome 10 at the 10q26 location. The human pancreatic lipase gene maps to chromosome 10q24-26, and we postulate an association. Lipoatrophic panniculitis describes the panniculitides in which atrophy is a feature. The classification of these diseases is confusing in the literature and the precise diagnosis still relies on a combination of clinical and laboratory assessment. Our finding of a chromosomal abnormality on chromosome 10q26 has not been described previously.

Lipoatrophic Panniculitis of the Ankles in Childhood

“…9 In this article, there was a mixture of cases of lipoatrophic panniculitis of the ankles with other types of lipoatrophy secondary to trauma or insulin and antibiotic injections. With the exception of the case reported by Martinez et al, 16 in which a predominance of CD3 lymphocytes was found, no consistent immunohistochemical studies have been performed to characterize the lymphoid infiltrate or to evaluate proliferative activity. In all other reported cases with histopathologic findings, mostly lobular inflammation of the subcutaneous tissue has been described, with predominance of histiocytes and fewer number of lymphocytes, neutrophils, plasma cells, and eosinophils.…”

“…In all, 15 cases have been published that can be regarded as corresponding to lipoatrophic panniculitis of the ankles in childhood [3][4][5][6]9,11,12,[14][15][16][17][18][19][20][21] (Table 1), and in 14 of them, a histopathologic study has been carried out. The presence of foamy macrophages is emphasized, together with lymphocytes and occasional polymorphs, but no systematic immunohistochemical or molecular study has been done.…”

Lipoatrophic panniculitis of the ankles

“…These patients responded to systemic corticosteroids. Martinez et al 5 . described an association between extensive lipoatrophic panniculitis and chromosome 10 abnormality.…”

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 .…”

“…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 …”