ABSTRACT
Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital, nonhereditary facial overgrowth due to post-zygomatic activating mutations in PIK3CA gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face. This commonly results in early eruption of the teeth, hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Less than 80 cases of CILF have been reported in the literature so far. Treatment modalities include liposuction and surgical excision. However, since the hallmark of CILF is mutation in the PIK3CA gene, PI3K inhibitors may play a therapeutic role in CILF. We report a case of an 8-year-old boy with recurrent CILF of the scalp and nose, with PIK3CA H1047R mutation. We discuss the differential diagnoses, clinical outcomes, and management of this rare entity.
ABSTRACT
Congenital symmastia is distressing and difficult to treat, and traditional surgical modalities have met with limited success. We present a novel approach for a patient that failed all traditional surgical options. The anatomic deformity is analyzed using a modified version of Blondeel's 3-step analysis (conus, footprint, and skin envelope, to which we added a fourth element "intermammary web"). Combining operative principles from breast cancer reconstruction, we describe 5 operative steps that help correct the deformity, followed by a new postoperative splinting regimen that addresses the common pitfalls that could lead to recurrence.
