Congenital Degos Disease: Case Report and Dermoscopic Findings

Abstract

Pediatric Degos disease is rare, with only 36 cases reported in the medical literature. Classically the diagnosis has been established according to pathognomonic histopathologic findings, but when these features are not present, there may be a delay in diagnosis. We report the second congenital case of Degos disease, highlighting the clinical and dermoscopic findings.

Neonate with white macules and mild erosions

“…Atrophic papulosis (AP), also known as Degos disease, is a very rare vasculopathic disorder. Approximately 200 cases have been reported in literature of which about 40 have been seen in the pediatric age‐group . The skin manifestations are unique and present as central, porcelain‐white atrophic lesions with a telangiectatic rim.…”

White scarlike lesions in a female infant with bilious emesis and sixth nerve palsy

“…Degos disease, or malignant atrophic papulosis, is named after its description by the French dermatologist Robert Degos in 1942 and is extremely rare in children. Most cases occur in middle‐aged adults, with only a handful of cases ever reported in infancy, and congenital presentation is even rarer, with only two cases ever reported before this patient …”

“…Although our patient had a progressive fatal course, it is not clear whether congenital onset portends a poorer prognosis. Of the two congenital cases reported, one followed a progressive course, and the other was systemically well at 18 months old on treatment …”

“…Most cases occur in middle-aged adults, with only a handful of cases ever reported in infancy, 1-3 and congenital presentation is even rarer, with only two cases ever reported before this patient. 4 The clinical presentation of the skin lesions is characteristically described as the appearance and evolution of discrete, atrophic, porcelain-white skin lesions with surrounding erythema and typical natural history, although lesions initially appear as pink papules on the trunk and extremities that umbilicate and then develop the characteristic porcelain white centers that can become necrotic or ulcerated. The morphologic differential diagnosis for these lesions includes progressive systemic sclerosis, cutaneous lupus erythematosus, and other medium-vessel vasculitides.…”

“…Of the two congenital cases reported, one followed a progressive course, and the other was systemically well at 18 months old on treatment. 4 Laboratory testing, including basic screening for autoimmune diseases (e.g. ANA, dsDNA, complement) or systemic inflammation (erythrocyte sedimentation rate, CRP), can have normal results and be unhelpful.…”