Schimmelpenning Syndrome: A Case Report and Literature Review

Abstract

We report a case of a male newborn with Schimmelpenning syndrome, which presented as diffuse sebaceous nevi covering the left side of the body, from the lower chin midface to the lower leg; cardiac-ocular comorbidities were also present. We present photographs of this patient's sebaceous nevi, which may assist physicians in the early diagnosis of this condition and prevent unnecessary examinations and inadequate therapies.

Disorders Caused by Genetic Mosaicism

“…If the mutations occur early on in development and affect several tissues, one sees syndromic disorders with a particular, characteristic nevus (3). Worthy of note here is Schimmelpenning syndrome, which has been known clinically for decades and which can affect in particular the CNS, eyes, and bones (osteomalacia, hypophosphatemic rickets) (26), with mosaic mutations detected in HRAS, KRAS, and NRAS (10). S Its identification as a mosaic disorder was able to explain the remarkable variability in clinical symptoms.…”

Nevus Sebaceous at an Unusual Location

“…NS that can be associated with other syndromic features such as mental retardation, central nervous system abnormalities, oculocardiac defects, or skeletal abnormalities is called linear NS syndrome, or Schimmelpenning syndrome (a neurocutaneous phakomatosis). [ 6 ] In this case, no involvement of oral and genital mucosae was seen. No multisystem disorders, such as neurological, ophthalmological, and skeletal abnormalities, were associated with the linear sebaceous nevus syndrome.…”

Atypical presentation of Schimmelpenning-Feuerstein-Mims syndrome associated to a giant congenital nevus: a one case report

“…The sebaceous nevus, present in about 0.3% of births, is a feature of SFM [2]. Cutaneous involvement is characteristic of the syndrome [5], the presence of organoid nevi is necessary to make the diagnosis. It comes in the form of a yellow-orange, pink lesion with finely papillomatous o an alopecia lesion that can be oval or blaschkolineal [2].…”

“…In this observation, the clinical presentation of the sebaceous nevus was typical. The scalp is the most common location of sebaceous nevi (42%), followed bythe face (32.6%); then the periauricular region (3.8%) then the neck (3.2%) [1,5].…”