Long-standing pili torti in 2 patients with chronic graft-vs-host disease

cGVHD: chronic graft-vs-host disease HSCT: hematopoietic stem cell transplant INTRODUCTION Pili torti is a term that originates from Latin (pili meaning hair, torti meaning twisted) used to describe the irregularly flattened and twisted appearance of hair shafts on microscopic hair mount evaluation. Clinically, affected patients have fragile, coarse, and sparse hair. The 1808 rotation along the hair shaft axis is thought to be caused by perifollicular fibrosis and abnormalities of the inner root sheath, with subsequent irregular formation of the hair shaft. The characteristic narrow and numerous twists distinguish pili torti from other types of hair shaft disorders. Congenital pili torti has been associated with a number of syndromes, including Bj€ ornstad syndrome, Menkes syndrome, and others. Bj€ ornstad syndrome is known to be caused by a missense mutation in the BCS1L gene on chromosome 2q34-36. BCS1L encodes an ATPase that has a central role in the proper functioning of the electron transport chain. In Bj€ ornstad syndrome, BSC1L mutations cause variable degrees of pili torti and sensorineural hearing loss, shown to be due to disrupted mitochondrial respirasome assembly and increased production of reactive oxygen species. Reports of acquired pili torti are few and have been associated with the use of oral retinoids and erlotinib and, in some patients, cicatricial alopecia. In these cases, however, the pili torti is localized, and medication-induced cases tend to resolve after discontinuation of the offending agent. Herein we describe 2 women with chronic graft-vs-host disease (cGVHD) with long-standing, diffuse alopecia and pili torti.