What does this research mean for the field?

Conservative management is a safe and effective alternative to surgery for extensive aplasia cutis congenita lesions with dural exposure, and detailed clinical and familial evaluation can effectively diagnose syndromic cases when genetic testing is unavailable. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.SUPPORTS_CONSENSUS.

What question did this study set out to answer?

To describe the clinical presentation and management of a newborn with severe familial aplasia cutis congenita featuring full-thickness scalp and bone loss with exposed dura mater.

September 3, 2026CureusOpen Access

Familial Aplasia Cutis Congenita With Exposure of the Meningeal Membrane: A Case Report

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Authors

LKLeandro R Kuniyoshi JPJessica B Pozza RBRodrigo C Barreiros

Discussion

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Overview

Case report reveals syndromic aplasia cutis congenita with dural exposure in a newborn, suggesting conservative wound management effectively avoids neonatal surgical risks.

Key Points

To describe the clinical presentation and management of a newborn with severe familial aplasia cutis congenita featuring full-thickness scalp and bone loss with exposed dura mater.
Clinical and genetic assessment of a male newborn (N=1) presenting with a 4–5 cm vertex ulceration, dysmorphic features, and cardiac anomalies.
Evaluation of family pedigree demonstrating autosomal dominant inheritance and literature review comparing surgical versus conservative interventions for Frieden type 9 aplasia cutis congenita.
Examination revealed a 4–5 cm vertex scalp defect with complete calvarial absence and dural exposure, associated with facial asymmetry, hypertelorism, low-set ears, cutaneous syndactyly, and an atrial septal defect characteristic of Scalp-Ear-Nipple syndrome.
Literature analysis confirmed that conservative local wound care provides a safe and effective therapeutic course, avoiding high neonatal risks of hemorrhage, infection, and general anesthesia associated with surgical grafting.

Cite This Study

Kuniyoshi et al. (2026) studied this question.

synapsesocial.com/papers/6a9934ea636c6408cfa7cbbf https://doi.org/10.7759/cureus.115515

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September 3, 2026CureusOpen Access

Familial Aplasia Cutis Congenita With Exposure of the Meningeal Membrane: A Case Report

View Full Paper

Ask AI

Bookmark

Authors

LKLeandro R Kuniyoshi JPJessica B Pozza RBRodrigo C Barreiros

Discussion

Member takes

Overview

Case report reveals syndromic aplasia cutis congenita with dural exposure in a newborn, suggesting conservative wound management effectively avoids neonatal surgical risks.

Key Points

To describe the clinical presentation and management of a newborn with severe familial aplasia cutis congenita featuring full-thickness scalp and bone loss with exposed dura mater.
Clinical and genetic assessment of a male newborn (N=1) presenting with a 4–5 cm vertex ulceration, dysmorphic features, and cardiac anomalies.
Evaluation of family pedigree demonstrating autosomal dominant inheritance and literature review comparing surgical versus conservative interventions for Frieden type 9 aplasia cutis congenita.
Examination revealed a 4–5 cm vertex scalp defect with complete calvarial absence and dural exposure, associated with facial asymmetry, hypertelorism, low-set ears, cutaneous syndactyly, and an atrial septal defect characteristic of Scalp-Ear-Nipple syndrome.
Literature analysis confirmed that conservative local wound care provides a safe and effective therapeutic course, avoiding high neonatal risks of hemorrhage, infection, and general anesthesia associated with surgical grafting.

Cite This Study

Kuniyoshi et al. (2026) studied this question.

synapsesocial.com/papers/6a9934ea636c6408cfa7cbbf https://doi.org/10.7759/cureus.115515

Also Consider

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