Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?

Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings

“…[12] Leukonychia was seen from infancy or early childhood itself in the previously reported cases of FLOTCH syndrome. [15] Our patient did not have leukonychia even at the age of 40 years. Presence or absence of leukonychia in the deceased sibling of the patient could not be confirmed.…”

“…Abnormal keratinization has been hypothesized as a mechanism for occurrence of trichilemmal cysts and leukonychia in FLOTCH syndrome. [15] Whether the association of trichilemmal cysts and generalized alopecia in our case has a similar pathological link or is a chance association needs to be explored. We hope this rare case report throws more light on understanding the etiopathogenesis of trichilemmal cyst.…”

“…[2,9,14] A genetic background can be further supported by presence of trichilemmal cysts in FLOTCH syndrome, their association with Gardner syndrome and nevoid occurrence in some cases. [12,15,16] The candidate gene is still not known. But Eiberg et al mapped a probable locus for a candidate gene 'TRICY1' (for trichilemmal cysts) on chromosome 3p24-p21.2.…”

A Syndrome of Leukonychia, Koilonychia and Multiple Pilar Cysts

“…Since Bauer described a family with leuconychia totalis and sebaceous cysts in 1920, only 5 In the present case, not only leuconychia but also koilonychia was noted, and cases of patients suffering both concurrent nail manifestations have been documented (1,3). Ciliar dystrophy was reported in a case described in (2), but no such concurrent manifestations have as yet been reported in other families.…”

PLCD1 and Pilar Cysts

“…While most families with trichilemmal cysts develop multiple scalp cysts as the sole clinical manifestation, trichilemmal cysts can present in combination with porcelain white nails (leukonychia) in rare families, where the genetic basis has not been elucidated (Rodríguez-Lojo et al, 2011). Leukonychia is thought to arise from a defect in keratinization in the nail plate, preventing the normal visualization of the pink vascular nail bed.…”