Trichodysplasia spinulosa in a child: Identification of trichodysplasia spinulosa‐associated polyomavirus in skin, serum, and urine

Abstract

A 6‐year‐old girl with a history of chronic immunosuppression following small bowel and colon transplantation for tufting enteropathy presented with a diffuse, facial‐predominant eruption composed of pink‐to‐skin‐colored papules with central white dystrophic spicules. Histology from a punch biopsy and polymerase chain reaction (PCR) from plucked spicules confirmed a diagnosis of trichodysplasia spinulosa (TS). Additional molecular studies identified several strains of the trichodysplasia spinulosa–associated polyomavirus infecting multiple tissues of the patient, confirming the systemic nature of trichodysplasia spinulosa infections.

Pediatric trichodysplasia spinulosa: A report of 2 cases and review of the literature

“…All patients presented with predominately centrofacial folliculocentric papules with keratinaceous spines. Twelve of the 19 cases demonstrated generalized involvement including the trunk and extremities 2,4,7,9‐15,18 . Lateral eyebrow alopecia and less commonly eyelash alopecia were reported as well 2,7,8,11,12,17,20 .…”

“…Renal transplant was the second most common, reported in five patients 4,14‐16 . Other underlying diagnoses included heart transplant, colon transplant, lung transplant, and multiorgan transplant 2,5,17‐20 . Immunosuppressive medications included tacrolimus, mycophenolate mofetil, systemic steroids, vincristine, methotrexate, cytarabine, cyclophosphamide, mercaptopurine, and sirolimus.…”

“…In three cases, PCR for TSPyV was run on plucked keratinaceous spines and found to be positive. 4,8,18 SV40T antibody immunostaining from tissue samples was also completed in two cases. In one case, TSPyV was detected via PCR testing of plucked spine, blood, and urine.…”

“…4,[14][15][16] Other underlying diagnoses included heart transplant, colon transplant, lung transplant, and multiorgan transplant. 2,5,[17][18][19][20] Immunosuppressive medications included tacrolimus, mycophenolate mofetil, systemic steroids, vincristine, methotrexate, cytarabine, cyclophosphamide, mercaptopurine, and sirolimus. The most commonly encountered combination was tacrolimus, mycophenolate mofetil, and systemic steroids, used in six patients.…”

Recent developments in trichodysplasia spinulosa disease

“…27 Immunostaining with an anti-TSPyV VP1 showed TSPyV In another study, next-generation sequencing on a small bowel and kidney transplant patient's blood and urine samples revealed multiple unique strains of TSPyV (Table 1). 28 These findings suggest that the virus may be undergoing active selection and mutation during the infection process, possibly to evade host immune recognition. Further investigation is required to determine the clinical relevance of these various TSPyV strains, how these strains differ, and whether there is a correlation between the strain type and cutaneous eruption.…”