Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.

This study assesses whether the routine submission of mastectomy scars for histologic examination at the time of delayed breast reconstruction is useful. A retrospective review was performed of all delayed breast reconstructions for breast cancer performed by a single surgeon over a 5-year period from January 2000 to December 2004. One hundred eighty-eight patients underwent delayed breast reconstruction during this period, and of these, 133 scars (1 patient had bilateral scars excised) were submitted for histology where the reconstruction was performed by either transversus rectus abdominus muscle flap (TRAM) or latissimus dorsi myocutaneous flap (LDF) +/- implant. Fifty-six patients had reconstruction performed by tissue expander through the inframammary crease where the original mastectomy scar was not excised and were excluded from the study. One mastectomy scar specimen showed a 2-mm suspicious area of invasive ductal carcinoma consistent with same histopathology at the time of mastectomy. This study corroborates evidence that it is questionable whether routine histopathology of mastectomy scar at the time of delayed breast reconstruction should not be a standard practice.