THE UTILITY OF THE NORMAL THIN SECTION SKIN BIOPSY IN THE ASSESSMENT OF SYSTEMIC/EXTRACUTANEOUS DISEASE.
Academic Article
Overview
abstract
BACKGROUND: Diseases reflective of multiorgan vascular injury of diverse etiology, peripheral nerve disease, dysautonomia syndromes and intravascular lymphoma malignancies may potentially exhibit abnormalities on a normal skin biopsy that may be instrumental in establishing a diagnosis. MATERIALS AND METHODS: A retrospective review of our data base was conducted to uncover cases where a normal skin biopsy was performed to rule in or out certain systemic diseases such as complement driven thrombotic microvascular disease including atypical hemolytic uremic syndrome, post transplant thrombotic microangiopathy, and severe/critical COVID-19, systemic capillary leak syndrome, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) intravascular B cell lymphoma, dysautonomia syndromes and mast cell activation syndrome. Immunohistochemical stains were conducted inclu C5b-9, CD56, MXA, B and T cell markers. RESULTS: There were expected patterns critical in establishing diagnosis based on evaluating certain parameters including assessing for increased C5b-9 microvascular deposition from the deltoid area(atypical hemolytic uremic syndrome, post-transplant thrombotic microangiopathy, catastrophic antiphospholipid antibody syndrome and severe/critical COVID-19), enhanced type I interferon signaling (systemic capillary leak syndrome), ultrastructural arteriopathic changes (CADASIL),lower extremity reduced cutaneous autonomic innervation (small fiber neuropathy and POTS), abdominal, thigh and buttock skin for the presence of intravascular lymphocytes on biopsy(intravascular B cell lymphoma), distinct structural changes in elastic fibers supportive of pseudoxanthoma elasticum and a higher than normal density of mast cells in the absence of other inflammatory cell types (mast cell activation syndrome). CONCLUSION: The skin is a critical window for understanding disease, a concept well exemplified by the myriad of diseases that can be suggested by the microscopic and or ultrastructural examination of clinically normal skin, hence establishing the normal skin biopsy as an important tool for understanding extracutaneous disease.
