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April 5, 2026Clinical Case Reports0 citationsOpen Access

Aplasia Cutis Congenita in Bart's Syndrome: A Case Report and Literature Review

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PSParvaneh SadeghimoghadamNHNiloofar HoorshadMAMaryam Ghavami Adel

Key Points

  • The aim was to increase awareness of concomitant anomalies associated with aplasia cutis congenita.
  • Case report of a 23-year-old female with a male fetus showing various anomalies.
  • Observed skin lesions, nail dystrophy, and ear abnormalities.
  • Diagnosed with duodenal atresia using abdominal imaging.
  • The male fetus exhibited multiple skin lesions at birth.
  • Surgical intervention was required due to duodenal atresia.
  • The infant remained intubated for 25 days but unfortunately did not survive.

Abstract

ABSTRACT Aplasia cutis congenita (ACC) is a partial or complete absence of skin layers which can be a part of a syndromic disease. Bart's syndrome is a combination of clinical manifestations including ACC, epidermolysis bullosa, blistering in the oral mucosa, nail dystrophy, or congenital absence of nails. Additional anomalies, such as pyloric atresia, a broad nasal root, hypertelorism, and ear abnormalities, may also be present. We aimed to raise awareness about concomitant anomalies with ACC. A 23‐year‐old female with gravid 3 para 2 gave birth to a male fetus of 36 weeks and 3 days who had multiple skin lesions on bilateral temporal skin of scalp, left buccal, and dorsum of left hand. Small white‐colored pustules were prominent on his chest, and nail dystrophy on the first finger of the right hand was reported. Both ears were anomalous and right‐sided torticollis was observed. There was no bony defect at the site of the skin lesions. On the third day of admission, duodenal atresia was diagnosed owing to vomiting and abdominal distention and the presence of double bubble sign on abdominal x‐ray. The patient underwent surgery on the fifth day of birth and remained intubated until the 25th day of birth and unfortunately passed away. The management of ACC alone can be either surgical or conservative; however, it is important to first rule out concomitant anomalies and syndromes which include ACC as a cutaneous manifestation.

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Cite This Study

Sadeghimoghadam et al. (2026) studied this question.

synapsesocial.com/papers/69d1fceba79560c99a0a2979https://doi.org/10.1002/ccr3.72378
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