Aplasia cutis congenita (ACC) can be associated with fetus papyraceus. We report here the first case of ACC linked to fetus papyraceus with pulmonary anomalies. At birth, the patient presented with skin lesions of the trunk consisting of well-defined, symmetrically distributed, bilateral atrophic ulcerations. Physical examination was otherwise normal. Persistent bronchospasm occurred at the age of 7 months; computed tomography images showed small bilateral pulmonary bullae. At the age of 5 years, skin and pulmonary lesions had not extended. Although the mechanisms of ACC linked to fetus papyraceus are unclear, vascular ischemia is strongly suggested, and could explain the bilateral and symmetric congenital skin and lung aplasia.

Objectives:The present study aimed to assess long-term functional outcomes of children with anorectal malformations (ARMs) across a network of expert centers in France.Methods:Retrospective cross-sectional study of patients ages 6–30 years that had been surgically treated for ARM. Patient and ARM characteristics (eg, level, surgical approach) and functional outcomes were assessed in the different age groups.Results:Among 367 patients, there were 155 females (42.2%) and 212 males (57.8%), 188 (51.2%) cases with, and 179 (48.8%) higher forms without, perineal fistula. Univariate and multivariate statistical analyses with logistic regression showed correlation between the level of the rectal blind pouch and voluntary bowel movements (odds ratio [OR] = 1.84 [1.31–2.57], P < 0.001), or soiling (OR = 1.72 [1.31–2.25], P < 0.001), which was also associated with the inability to discriminate between stool and gas (OR = 2.45 [1.28–4.67], P = 0.007) and the presence of constipation (OR = 2.97 [1.74–5.08], P < 0.001). Risk factors for constipation were sacral abnormalities [OR = 2.26 [1.23–4.25], P = 0.01) and surgical procedures without an abdominal approach (OR = 2.98 [1.29–6.87], P = 0.01). Only the holding of voluntary bowel movements and soiling rates improved with age.Conclusion:This cross-sectional study confirms a strong association between anatomical status and functional outcomes in patients surgically treated for ARM. It specifically highlights the need for long-term follow-up of all patients to help them with supportive care.

No abstract