Naevus Sebaceus (Jadassohn)

Robinson, Saul S.

doi:10.1001/archderm.1932.01450030662008

Cited by 53 publications

(10 citation statements)

References 6 publications

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“…In 1895, Jadassohn first described a patient with a congenital cutaneous lesion of linear distribution, which was initially classified as naevi sebacei, and subsequently as nevus sebaceous of Jadassohn (Jadassohn, ; Robinson, ). In 1957, Schimmelpenning recognized the association of such cutaneous lesion with brain, eye, and skeletal anomalies (Schimmelpenning, ), and shortly after Feuerstein and Mims reported two cases with the clinical triad of linear nevus sebaceous with epilepsy and mental retardation (Feuerstein & Mims, ).…”

Section: Discussionmentioning

confidence: 99%

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Chacón‐Camacho

López-Moreno

Morales‐Sanchez³

et al. 2019

Molec Gen & Gen Med

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Background Postzygotic KRAS , HRAS , NRAS , and FGFR1 mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐Feuerstein‐Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies. Methods Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of KRAS , HRAS , NRAS , and FGFR1 genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low‐level mosaicism. Results In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids. Conclusion Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in KRAS and FGFR1 is a commonly involved mechanism in these rare oculocutaneous anomalies.

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Section: Discussionmentioning

confidence: 99%

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Chacón‐Camacho

López-Moreno

Morales‐Sanchez³

et al. 2019

Molec Gen & Gen Med

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“…In 1932 Robinson reported four cases and did an extensive review of the topic (Robinson, 1932). He carefully studied the histology of those lesions.…”

Section: Definition and Historical Notesmentioning

confidence: 99%

Epidermal nevus syndrome

Flores‐Sarnat

2013

Handbook of Clinical Neurology

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“…Prophylactic surgery is classically recommended because of the development of various carcinomas in NS. 2,3 NS is most commonly found in the scalp, followed by the face. The classic presentation of NS with a malignant potential means that these growths should not be overlooked (Fig.…”

Section: Introductionmentioning

confidence: 99%

Nevus sebaceus of Jadassohn revisited with reconstruction options

Davison¹,

Khachemoune²,

Yu³

et al. 2004

Int J Dermatol

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Background Nevus sebaceus of Jadassohn (NS) has the classic presentation on the head and neck of a yellow–orange‐colored, waxy, pebble‐like, papule or plaque. Its reported malignant potential varies between 0.8% and 50%. The common location of NS on the temporal hairline leaves a cosmetic defect. Methods We retrospectively reviewed a consecutive series of patients with NS located in the temporal scalp region. Thirteen patients were included. Twelve patients were reconstructed with a temporal flap. One patient had a primary linear scalp closure after excision. Clinical, histopathologic, surgical, and photographic records were used to review the clinical, anatomic, and pathologic presentation of the lesions. Reconstructions were rated on a scale of 1–5 by two independent examiners. The cosmetic results were also assessed by the patients. Results Patients ranged in age from 3 to 40 years. All of the lesions were located in the temporal area of the scalp. All cases were pathologically determined as NS. Two cases contained basal cell carcinoma (15%). Two cases were re‐excisions of confirmed NS. One case was excised and closed with difficulty using a linear primary closure. Rotation flaps based on the superior temporal artery were used for the reconstruction of the defects in 12 patients. Nine of the flaps were anterior rotation flaps and three were posterior. The average score for the cosmetic results of the patients was 3.75, with the lowest score being 2, and the highest 5. The score for the linear closure was 2. Conclusion A rotation flap based on the superficial temporal artery is an excellent reconstructive solution for NS located in the temporal scalp region.

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Naevus Sebaceus (Jadassohn)

Cited by 53 publications

References 6 publications

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Epidermal nevus syndrome

Nevus sebaceus of Jadassohn revisited with reconstruction options

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