Nevus sebaceous syndrome

Abstract

A 10‐day‐old boy presented with an 11‐cm × 7‐cm asymptomatic well‐demarcated alopecic verrucous yellowish plaque on the right temporoparietal area, a 5‐cm × 3‐cm verrucous yellowish plaque on the forehead, and a linear plaque extending from the forehead to the nose ridge present since birth. He also had a 2‐cm pedunculated mass from the right bulbar and tarsal conjunctiva ( ). The gestational age was 39 weeks and 5 days and he weighed 4.04 kg at birth. No abnormalities were observed upon physical examination except for the cutaneous and optical findings. An examination of the fundus revealed macular agenesis and peripapillary atrophy ( ). No family history was revealed. The results of laboratory tests, including complete blood count, blood chemistry, immunochemical study, screening test for inborn metabolic disorders (methionine, leucine, phenylalanine, galactose, thyroid hormone, thyroid stimulating hormone), and antibody tests to TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes virus), were normal. The results from the chromosomal study, brainstem auditory evoked potential, and visual evoked potential were normal. Chest and skull X‐ray did not show any abnormal signs. Orbit and brain magnetic resonance images showed findings suggesting a lipodermoid cyst from the right eyeball and subdural hygroma or arachnoid cysts in both of the frontal and both of the temporal areas ( ). The histopathologic examination of a lesional biopsy specimen revealed hyperkeratosis, papillomatosis in the epidermis, large numbers of sebaceous glands of various sizes, and immature hair structures in the dermis. 1 Asymptomatic verrucous yellowish alopecic plaque on the right frontal temporoparietal area and linear verrucous yellowish plaque on the nose. Solitary 2‐cm pedunculated mass from right tarsal and bulbar conjunctiva 2 Fundus photograph reveals macular agenesis and peripapillary atrophy 3 Widening of the cerebrospinal fluid (CSF) space is noted at the bilateral anterior temporal fossa and bilateral frontal area, suggesting subdural hygroma or arachnoid cyst

Newborn with Sebaceous Nevus of Jadassohn Presenting as Exophytic Scalp Lesion

“…Neurological problems include hydrocephalus, mental retardation, skull asymmetry [8], cortical dysplasia, glial hamartoma, glioma, ganglioma or astrocytoma and can be associated with the elevated risk of tumorigenesis from abnormal astroglial cell proliferation [9]. To date, sebaceous nevus syndrome case reports have been sporadic, and no ethnic and/or racial predominance has been noted [8]. …”

The group of epidermal nevus syndromes

“…23 It is the best known ENS, and some authors still prefer to categorize it as ''the ENS.'' [24][25][26][27][28][29][30] The terminology of this birth defect is rather confusing and includes, in addition to Schimmelpenning syndrome, 5,21,31 many other names, such as Feurstein, FeuersteinFeurstein, Feuerstein Mims syndrome, [32][33][34] Schimmelpenning-Feuerstein-Mims syndrome, 35-37 Solomon syndrome, [38][39][40] ENS, 12,38,[41][42][43][44][45][46] Jadassohn nevus phacomatosis, [47][48][49] Jadassohn-Schimmelpenning-Feuerstein-Mims syndrome, 50 organoid nevus phacomatosis, 35,51 organoid nevus syndrome, 52,53 sebaceous nevus syndrome, [54][55][56][57][58] linear sebaceous nevus syndrome, 50,[59][60][61][62][63][64] and Jadassohn sebaceous nevus syndrome. 65 Consequently, Schimmelpenning syndrome temporarily had three different Online Mendelian Inheritance in Man numbers; these have resently been reduced to two entries (163200 and 601359).…”

Gustav Schimmelpenning and the Syndrome Bearing His Name

“…Besides this term, we find in the literature the following synonymic designations: Schimmelpenning syndrome [19, 20, 21, 22]; Feuerstein-Mims syndrome [6, 7, 23]; Schimmelpenning-Feuerstein-Mims syndrome [11, 24, 25]; epidermal nevus syndrome of Solomon [26, 27, 28]; epidermal nevus syndrome of Solomon, Fretzin and Dewald [29]; Solomon syndrome [10]; linear nevus sebaceus syndrome [30, 31, 32, 33, 34]; sebaceous nevus syndrome or nevus sebaceus syndrome [35, 36, 37, 38]; organoid nevus phacomatosis [2, 24, 39]; organoid nevus syndrome [40, 41]; Jadassohn disease [42]; Jadassohn sebaceous nevus syndrome [43], and Jadassohn nevus phacomatosis [44, 45]. As a consequence of this confusing nomenclature, Schimmelpenning syndrome even has two different OMIM entries (no.…”