ABSTRACT
ABSTRACT: Cystinosis is an autosomal recessive lysosomal storage disorder with intracellular cystine accumulation caused by mutations in the CTNS gene. We present a case of a 48-year-old woman with a history of cystinosis and squamous cell carcinoma treated with Mohs micrographic surgery where widespread deposition of cystine crystals were noted on frozen sections of the Mohs layers. These were rectangular to polygonal refractile crystals within the cytoplasm of dermal fibroblasts and macrophages which were highlighted by polarized light microscopy. This case illustrates the use of frozen section processing to demonstrate the presence of intracellular cystine crystals. Moreover, because patients with cystinosis may be predisposed to developing carcinomas postrenal transplantation, Mohs surgeons should be aware of this unusual phenomenon when evaluating the slides.
Subject(s)
Cystinosis , Cystine/genetics , Cystinosis/genetics , Female , Humans , Incidental Findings , Middle Aged , Mohs Surgery , MutationABSTRACT
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.
Subject(s)
Aniridia/genetics , Fatty Acid Transport Proteins/genetics , Ichthyosis/genetics , Infant, Premature, Diseases/genetics , Kidney/abnormalities , Mutation , Psychomotor Disorders/genetics , Skin/pathology , Female , Humans , Infant, Newborn , MaleABSTRACT
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.
