White Epidermal Nevi at Birth in a Patient with Tuberous Sclerosis

Abstract

We report a neonate who presented at birth with multiple, scattered, white macerated plaques. Punch biopsy confirmed epidermal nevi. At 3 months of age the patient presented with infantile spasms and, after full evaluation, was diagnosed with tuberous sclerosis complex (TSC). We suggest that physicians consider TSC in a neonate with epidermal nevi inconsistent with any described epidermal nevus syndrome.

Neonatal Tuberous Sclerosis: is skin really the window?

“…3 It is reported that, 42% of epidermal nevi are actually due to mutations that produce proteins which act as upstream regulators of the TSC1 and TSC2 genes. [9][10][11] Similarities between Linear Sebaceous Nevus Syndrome, another kind of hamartoses and Tuberous Sclerosis have been described in the past 12 and recently, newer osseocutaneous manifestations with TSC have also been described. 13 Progress of LVEN from being macerated to pinkish color can be explained by the initial maceration due to amniotic fluid hydration in utero followed by quick keratinization.…”

“…8 In our case, biopsy of the lesion was not considered as the diagnosis of Tuberous sclerosis was certain. 5 A case described by Elam et al 9 showed similar white epidermal nevus in a neonate on day 1 of life but these appeared as plaques and papules that later on was diagnosed as TSC. Their case presented with only nevi at birth but later developed hypopigmented macules followed by seizures at age 3 months prompting the diagnosis of Tuberous Sclerosis.…”

White hyperkeratotic plaque in a patient with infantile spasms

“…4 We found only one case similar to ours in which the patient had TS and presented with multiple white epidermal nevi from birth. 5 In this previous case, no genetic analysis was performed on tissue taken from the epidermal nevus. The lack of a TSC2 mutation in the epidermal nevus tissue of our patient may suggest a somatic reversal of the germline mutation, although a negative finding due to technical problems cannot be ruled out, due to the paraffinembedded specimen.…”

“…A report of two epidermal nevi (and four nevus sebaceus) treated with rapamycin cream 1% (twice daily for periods between 1 month and 5 years) showed good results. 8 Ver onica Mora-Fernández MD 1,2 Adrià Plana-Pla MD 1,2 Ariadna Quer MD 3 Ignacio Blanco PhD 4,5 Isabel Bielsa PhD…”

A large shagreen patch with overlying verrucous epidermal naevus: a curious case of colocalization

“…During a careful literature search, we found a few case reports describing the association of fibroadipose overgrowth with TSC . We also found a case report describing multiple, circumscribed epidermal naevi (not colocalizing with collagenomas) in a neonate who developed TSC by 3 months of age . These cases are very rare, and might have occurred because of the mutations sustained in both the PI3K/AKT and TSC1/2 components of mTOR pathway.…”