Epidermal naevi associated with trichilemmal cysts and chromosomal mosaicism

Abstract

We present the case of a 29-year-old woman who has had a widespread epidermal naevus since birth, located on the left side of her body, upon which multiple trichilemmal cysts developed several years later. The karyotype of peripheral blood lymphocytes revealed chromosomal mosaicism 46, XX, t (1;9) (p36:q34). The possible pathogenic mechanisms include paracrinopathy, germinal or somatic mutation in the multipotential embryo cells, or a combination of the two.

Nevus Trichilemmocysticus: Report of a New Case of a Recently Recognized Entity

“…During childhood, many TC arranged in a similar pattern have developed, though limited to the limbs. These TC were relatively small, similar to those described in some of the previous reports (8,9), but larger cysts have also been described (2,7,10). Comedo-like plugs were not seen in our patient.…”

“…These authors designated this new entity NTC and emphasized the clinical features of filiform hyperkeratoses and comedolike plugging, which while not pathognomonic, are characteristic of this type of epidermal nevus. They also reviewed the literature and identified four previously reported cases that they suggested should be recategorized as NTC (2,(7)(8)(9)(10).…”

Trichilemmal cyst nevus: A new complex organoid epidermal nevus

“…Another case was reported by Iglesias Zamora and Vázquez-Doval. 7 Karyotyping of blood lymphocytes revealed mosaicism involving a translocation between chromosomes 1p and 9q, but it remained unclear whether this finding was related to the patient's skin disorder. Sevila Llinares et al 8 described an epidermal nevus covered by rather small trichilemmal cysts clinically reminiscent of milia.…”

Naevus Spinofiliformis

“…The presence of hyperkeratosis, papillomatosis and acanthosis with lengthening of the ridges is the commonest histological pattern for epidermal naevi. [ 3 ]…”

“…However, spinous filiform projections in epidermal naevus have been described in earlier case reports as shown in Table 1 . [ 1 3 4 5 6 ]…”