Degos disease: a new simulator of non‐accidental injury

Abstract

Recent high‐profile cases have made paediatricians very aware of the serious implications of either missing or wrongly diagnosing non‐accidental injury. Subdural fluid collections in non‐mobile infants usually represent haemorrhage caused by non‐accidental injury. We report a 6‐month‐old male who presented to the Accident and Emergency Department of Birmingham Heartlands Hospital with bilateral subdural fluid collections and skin ulcers resembling cigarette burns. Non‐accidental injury was considered to be the most likely diagnosis. However, while under observation in hospital, the child’s neurological condition deteriorated with progressive cerebral infarctions, and serial photographs of the skin lesions showed failure to heal. The revised diagnosis, confirmed histologically, was Degos disease, an extremely rare and often fatal occlusive vasculopathy. The child was treated palliatively and died 8 weeks after presentation. This report informs doctors of a new simulator of non‐accidental injury to be considered in infants with otherwise unexplained subdural fluid collections.

Recognizable phenotypes associated with intracranial calcification

“…This group includes Degos 17,18 disease, infantile Krabbe disease, 19 juvenile Alexander disease, 20 chromosomal abnormality, and presumed mitochondrial disease. In these patients the diagnosis was made because of other clinical and radiological features, and the pattern of calcification was non‐specific.…”

Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis

“…There was no histological evidence for granulomatous disease, lupus, vasculitis or pyoderma. The scar‐like lesions of Degos disease may mimic child abuse, but were excluded in these cases by morphology and histology findings. Urticaria causes scratching, but not chronic erosions.…”

Congenital Degos Disease: Case Report and Dermoscopic Findings

“…The classical wedge-shaped area of ischemia may be observed in developed and late-stage lesions, which usually lack perilesional erythema, but characteristic histologic features are not always consistently present, which may delay diagnosis (1,4,6,7,22). In our review, 13.8% (n = 5) of the children were found to have the typical wedgeshaped ischemia in the dermis (2,3,9,18,19) (Table 1).…”

“…Although DD most commonly affects middle-aged Caucasian adults, with a male preponderance, onset from birth to 70 years has been described (1,2). Pediatric cases are rare, and only a single case with presentation at birth has been reported (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(18)(19)(20)(21)(22)(23). Most cases appear to be sporadic, but some suggest the possibility of autosomal dominant inheritance (1,9,12).…”

“…Systemic involvement, the result of multiple infarctions, affects the gastrointestinal tract, central nervous system, and rarely the pericardium, lungs, and kidney (2,9). Cerebral thrombosis, massive hemorrhage, and bowel perforation, among other systemic manifestations, are the major causes of mortality (2,3,6,7,10,14,20,22). It has recently been proposed that DD be classified into malignant and benign forms based on the presence of extracutaneous involvement, because not all patients follow the same course (1).…”