A Case of Familial Cutaneous Collagenoma

Abstract

Familial cutaneous collagenoma is a rare hereditary disease that is inherited in an autosomal dominant pattern. It is characterized by early onset of multiple, skin-colored, sometimes hypopigmented cutaneous nodules, which initially show a symmetrical arrangement on the trunk, and later on the neck and upper limbs. We report on a case of a 45-year-old female who presented with multiple oval to round hypopigmented papules measuring 5~15 mm on her trunk. Histopathologically, the lesions showed an increased amount of collagen fibers and decreased, fragmented elastic fibers in the dermis. The skin lesions were diagnosed as familial cutaneous collagenoma and no treatment was administered. To the best of our knowledge, our case is the first reported case of familial cutaneous collagenoma (FCC) in the Korean literature.

Eruptive collagenomas associated with adalimumab treatment of juvenile rheumatoid arthritis

“…Histopathologically, the collagenomas of EC show an excessive accumulation of dense, coarse collagen fibers in the dermis . Other terms that have been used to describe the abnormal collagen of EC include “broad bundles,” “haphazardly arranged,” or “homogenized.” In most reports, elastic fibers (as seen with the Van Gieson elastic stain) are described as being diminished in number, fragmented, or “abnormal” . We have found that the abnormal collagen bundles have a slightly different tint of eosinophilia than that of the adjacent normal collagen (on H and E stained slides), and there are also fewer artifactual fenestrations of the collagen and a higher number of fibroblasts.…”

“…The first description of eruptive collagenomas is often attributed to Coulomb in 1955, but Amaya mentions probable cases in the Japanese literature dating back to 1928. Henderson et al described the first case of familial collagenoma in 1968, and since then several other affected families have been documented . Lesions of EC tend to appear rather suddenly, in days to weeks, but additional lesions can arise for several months after the initial crop.…”

“…All age groups and both sexes can be affected by EC, and cases as young as 2 and 3 years old and as old as 70 years have been described. While most cases are reported as having an onset in adolescence and young adulthood, several pediatric cases have been described. A single case report of a patient with lesions present at birth can also be found …”

“…Most patients with EC are otherwise well or have one of a variety of isolated comorbidities. In one family, onset of lesions started in puberty and the condition worsened during a pregnancy, suggesting a hormonal relationship . However, several cases have had an onset of EC as young children or adults.…”

“…Collagenomas are connective tissue nevi that are dominated by an increase in collagen (vs elastin) . Multiple acquired collagenomas can be familial or can affect a single family member. When several collagenomas arise within a short time span, whether familial or non‐familial, they are referred to as eruptive collagenoma (EC).…”