Systematised Epidermal Nevus - A Case Report

Abstract

A 20-year-old female born to nonconsanguineous parents was seen in our outpatient department with complaints of raised skin lesions all over the body since birth. There was a history of darkening and thickening of the lesions with age. The growth and developmental history were normal and there was no history of seizures or learning difficulty, altered vision or difficulty in hearing.On examination there were multiple pigmented macules and hyperkeratotic papules arranged in streaks and whorls over the forehead, left side of face extending from the left lower eyelid upto mid face, as a linear streak from near the angle of mouth left side to the neck, as a linear streak over the temple and adjoining the upper eyelid and side of face on the right side. Similar lesions were seen as streaks on both sides of the neck [Table/ Fig-1], as linear streaks extending from posterior aspect of neck to the upper back [Table/ Fig-2], as whorls over sides of chest and abdomen and as linear streaks over both lower limbs. The oral and genital mucosa were found to be normal. Histopathology of the lesion taken from left leg revealed hyperkeratosis with moderate acanthosis [Table/ Fig-3]. There was uniform pigmentation over the basal zone. In the dermis there were prominent hair follicles and sebaceous glands. The examination of other systems did not reveal any abnormality. There were no skeletal deformities. Examination of the nervous system was also observed to be normal. Magnetic resonance imaging (MRI) brain did not reveal any abnormality. IQ testing was done and the patient was found to be of normal intelligence.

Verrucous epidermal naevus: a misleading diagnosis for 28 years

“…1 PNPLA1 (Patatin-Like Phospholipase Domain-Containing Protein 1) is strongly expressed in the epidermal granular cell layer 1 and has been recently shown to play a crucial role in epidermal x-O-acylceramide biosynthesis and skin barrier integrity both in mice and humans. [2][3][4][5] Concomitantly, several ARCI families carrying PNPLA1 mutations have been described confirming that most mutations occur in the highly conserved patatin core domain. 1,[5][6][7][8][9][10] We report the identification of two novel missense mutations in PNPLA1 in two Italian sisters affected with ARCI characterized by a cyclic disease course.…”

“…[2][3][4][5] Concomitantly, several ARCI families carrying PNPLA1 mutations have been described confirming that most mutations occur in the highly conserved patatin core domain. 1 PNPLA1 (Patatin-Like Phospholipase Domain-Containing Protein 1) is strongly expressed in the epidermal granular cell layer 1 and has been recently shown to play a crucial role in epidermal x-O-acylceramide biosynthesis and skin barrier integrity both in mice and humans.…”

“…EN can be further subdivided into epidermolytic and non-epidermolytic, important as in contrast with non-epidermolytic EN, epidermolytic EN occurs sporadically (not heritable), and it is not associated with extracutaneous abnormalities. 3 The epidermal naevus syndrome (ENS) is the association of EN with abnormalities in other organ systems, mainly in the central nervous system, skeletal system, eyes and oral cavity. 4 The aim of this paper was to report a case of a verrucous epidermal naevus that affected the nail unit, and was treated as a viral wart for 28 years.…”

Systematized Verrucous Epidermal Nevus- A Case Report

“…10 Clinical variants documented by Blaschko are linear, zosteriform, unilateral or systematized patterns with streaks and swirls. 6,11 It is known as systematized epidermal nevus, when it involves diffuse or extensive body areas 12,13 and is called as nevus unius lateris, if it involves one half of the body. 14 Ichthyosis hystrix is the term used to describe when there is extensive bilateral involvement.…”

Isolated systematized nevus Unius Lateris: a case report

“…There have been approximately 200 cases reported in the medical literature [ 1 ]. They present as linear or whorled, skin colored to gray-brown and black verrucous papules, which may coalesce to form plaques that tend to follow the lines of Blaschko and are usually associated with systemic abnormalities [ 1 , 2 ]. We present the case of a 7-year-old male patient diagnosed with an isolated systematized nevus unius lateris.…”