Schimmelpenning–Feuerstein–Mims syndrome (a case report)

Abstract

Линейный невус сальных желез-редкое спорадическое нейроокулокожное заболевание, характеризующееся триадой симптомов: линейным невусом сальных желез, поражением центральной нервной системы и поражением органов зрения. Авторами представлен краткий обзор отечественной и зарубежной литературы и собственное клиническое наблюдение пациентки со специфическим поражением кожи на фоне врожденного синдрома Шиммельпеннинга-Фейерштейна-Мимса. Проанализированы проблемы дифференциальной диагностики невуса Ядассона с синдромом Шиммельпеннинга-Фейерштейна-Мимса.

Nevus sebaceus of Jadassohn - high frequency ultrasound imaging and videodermoscopy examination. Case presentation

“…NSJ incidence in the newborn is approximately 0.3%, equal between male and female patients. NSJ inheritance in an autosomal dominant type is quite frequent, as mosaicism results in HRAS, and KRAS genes [ 2 , 3 , 8 – 11 ]. These gene somatic mutations lead to an increase in nevus epithelial cells proliferation, which contributes to the benign and malignant skin appendages tumors appearance at the NSJ site [ 2 , 3 , 5 ].…”

“…NSJ inheritance in an autosomal dominant type is quite frequent, as mosaicism results in HRAS, and KRAS genes [ 2 , 3 , 8 – 11 ]. These gene somatic mutations lead to an increase in nevus epithelial cells proliferation, which contributes to the benign and malignant skin appendages tumors appearance at the NSJ site [ 2 , 3 , 5 ]. Genes mosaicism is also associated with the appearance of a linear sebaceous nevus or Schimmelpenning-Feuerstein-Mims syndrome (a neurocutaneous phakomatosis), which is characterized by a symptoms triad - a linear nevus, central nervous system, and vision organs disorders.…”

“…The linear configuration of the nevus sebaceous is noted in the Schimmelpenning-Feuerstein-Mims syndrome, while the elements are much larger and can be located along the Blaschko lines. The nevus size varies widely - from several millimeters up to 10 cm, giant nevi are extremely rare [ 2 , 3 , 6 ]. In the puberty the nevus becomes thicker, as a result of the sebaceous glands and other skin appendages hyperplasia, its surface acquires a verrucous character and intense color.…”