Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome

Abstract

Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

Giant Folliculosebaceous Cystic Hamartoma of the Face

“…We further considered two potential differential diagnoses. One of them is called Schimmelpenning–Feuerstein–Mims syndrome (SFMS), which is a congenital neuroectodermal symptom complex with nevus sebaceous, malformations, and the possibility of developing dysplasia of the eyes, skin, brain, skeleton, and heart [ 30 ]. Furthermore, this syndrome is often combined with hypophosphatemia.…”

Sebaceous nevus of Jadassohn: review and clinical-surgical approach

“…3,14---16 Subsequently, in 1957, Gustav Schimmelpenning performed the evaluation of a patient with skin lesions and neurological impairment manifestations caused by cranial malformation and, due to the fact that this condition did not correspond to any other previously described clinical picture, Schimmelpenning categorized it as a neurocutaneous phakomatosis. 5,11 In 1962 Feuerstein and Mims reported a case of a linear nevus associated with seizures and intellectual disability symptoms. 5 Since then, the so-called classic triad used for the diagnosis has been created, which consists of neurological impairment, seizures, and intellectual disability, associated with the presence of a nevus sebaceus.…”

“…5,11 In 1962 Feuerstein and Mims reported a case of a linear nevus associated with seizures and intellectual disability symptoms. 5 Since then, the so-called classic triad used for the diagnosis has been created, which consists of neurological impairment, seizures, and intellectual disability, associated with the presence of a nevus sebaceus. 11 However, subsequent studies have shown that the extracutaneous manifestations of the Schimmelpenning-Feuerstein-Mims syndrome are much more diverse.…”

“…1---4 The etiology of this disease has not yet been fully clarified and, therefore, needs further investigation. However, recent studies suggest the association of a post-zygotic somatic mutation related to the HRAS (chromosome 11p15), NRAS (chromosome 1p13) and KRAS (chromosome 12p12) genes 5,6 in the genesis of this condition, as they condition the cell proliferation process. 6,7 The clinical manifestation occurs as plaques with partial or complete alopecia, with a linear or oval shape, and color ranging from skin-colored, to yellowish-orange or brownishblack, with a smooth, nipple-like or verrucous appearance, depending on the degree of lesion development.…”

Association of Central Precocious Puberty with a Rare Presentation of Schimmelpenning–Feuerstein–Mims Syndrome in a Peruvian Girl

“…Schimmelpenning–Feuerstein–Mims (SFM) syndrome, an epidermal nevus syndrome characterized by skin lesions, has an estimated incidence of 1 per 10 000 live births [ 1 ]. Nevus sebaceous, the most common cutaneous lesion, and verrucous nevus, the less frequent lesion, occur in conjunction with several organic and systemic anomalies such as neurological, skeletal, cardiovascular, ophthalmic, and urologic disorders [ 2 – 4 ]. As part of these, endocrine abnormalities, such as hypophosphatemic vitamin D resistant rickets, syndrome of inappropriate antidiuretic hormone (SIADH), and more rarely central precocious puberty (CPP), are manifested; however, very few cases have been reported so far [ 5 , 6 ].…”