Familial nevus sebaceus in dizygotic male twins

Hughes, Stephen; Wilkerson, Anne E.; Winfield, Harry L.; Hiatt, Kim M.

doi:10.1016/j.jaad.2005.08.040

Cited by 14 publications

(5 citation statements)

References 7 publications

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“…Most cases of NSJ appear to be sporadic, and the disease was thought to be caused by sporadic genetic mutations until 1982, when several case reports suggested dominant genetic transmission as a mechanism for this nevus's family inheritance [17,18]. A paradominant inheritance theory was also suggested [19].…”

Section: Discussionmentioning

confidence: 99%

Dermoscopic Analysis of Nevus Sebaceus of Jadassohn: A Study of 13 Cases

Kelati

Baybay

Gallouj

et al. 2017

Skin Appendage Disord

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Background: Nevus sebaceus of Jadassohn (NSJ) is a complex cutaneous hamartoma with various clinical appearances. Aim: To describe different dermoscopic patterns of this nevus according to its evolutionary stages. Methods: This was an analytical study of NSJ carried out in the Department of Dermatology at the University Hospital Hassan II, Fez, Morocco. Results: Thirteen patients with a NSJ were enrolled in the study. Elevated verrucous plaques were noticed in 9 patients, homogeneous tumors were described in 2 NSJ, an alopecic patch was found in 1 case, and we had 1 case of malignant transformation into basal cell carcinoma. The dermoscopic aspects of NSJ described in our study were yellowish or brown globules aggregated in clusters on a yellow background. This pattern was significantly related to the first stage of an alopecic patch (p = 0.001). Whitish-yellow lobular aspect and grayish papillary appearance were significantly related to verrucous plaques (p = 0.003). Homogeneous yellow-whitish pattern was related to nodules (p = 0.005). Conclusion: The establishment of specific dermoscopic features of NSJ according to its evolutionary stages is important for its diagnosis and especially its monitoring in order to detect malignant transformation.

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Section: Discussionmentioning

confidence: 99%

Dermoscopic Analysis of Nevus Sebaceus of Jadassohn: A Study of 13 Cases

Kelati

Baybay

Gallouj

et al. 2017

Skin Appendage Disord

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“…Most cases of NS occur as isolated, sporadic genetic events fully consistent with postzygotic mutations. However, a number of cases have occurred in three generations, parent and child(ren), siblings, and dizygotic twins, although discordant inheritance in monozygotic twins has also been noted, supporting the concept of postzygotic mutations …”

Section: Clinical Presentation Of Naevus Sebaceusmentioning

confidence: 99%

Naevus sebaceus: a mosaic RASopathy

et al. 2013

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Epidermal naevi are common cutaneous mosaic disorders that occur in 0.1-0.3% of live births. They are subdivided into keratinocytic and organoid naevi, the latter including naevus sebaceus (NS). Typically, NS develops as a yellowish-orange plaque on the scalp, and represents a hamartoma containing epidermal, sebaceous and apocrine elements. The histological features of NS sampled in childhood include hyperkeratosis, acanthosis, increased sebaceous lobules, and primitive hair follicles. During puberty, most lesions develop more prominent sebaceous and apocrine components. Subsequently, secondary tumours may occur in around 25% of NS; most lesions are benign (e.g. trichoblastomas, syringocystadenoma papilliferum or other basaloid proliferations), although malignant tumours arising within NS can occur (< 1%). Recently, somatic mosaicism has been shown, with activating Ras mutations in HRAS or KRAS in NS lesional keratinocytes (but not in adjacent nonlesional skin or dermal fibroblasts). These mutations lead to constitutive activation of the RAF-MEK-ERK and phosphoinositide 3-kinase signalling pathways, and result in increased cellular proliferation. Similar but more extensive mosaicism underlies Schimmelpenning-Feuerstein-Mims syndrome. The most common mutation is c.37G>C (p.Gly13Arg) in HRAS, which is present in > 90% of NS. This mutation also seems to be present in NS cases that develop secondary tumours, although no additional mutations (second hit) or other genetic events have yet been identified. Treatment of NS often involves prophylactic surgical excision, but the recent identification of key epidermal signalling abnormalities underlying the cell proliferation means that future development of new medical treatments for NS that target the aberrant signalling pathways may also be feasible.

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“…The baby was referred to dermatology follow‐up. Naevus sebaceous occurs in approximately 0.3% of newborns and is usually sporadic, although familiar cases have been reported 2 . It consists of a benign hamartoma of the skin, presenting as a waxy, yellow‐orange or tan, hairless plaque 1,2 .…”

Section: Answermentioning

confidence: 99%

“…Naevus sebaceous occurs in approximately 0.3% of newborns and is usually sporadic, although familiar cases have been reported 2 . It consists of a benign hamartoma of the skin, presenting as a waxy, yellow‐orange or tan, hairless plaque 1,2 . It can appear as an isolated lesion or associated with serious congenital anomalies (cerebral, ocular or skeletal defects), the Schimmelpenning syndrome 3 .…”

Section: Answermentioning

confidence: 99%

Cauliflower scare

2021

J Paediatrics Child Health

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Familial nevus sebaceus in dizygotic male twins

Cited by 14 publications

References 7 publications

Dermoscopic Analysis of Nevus Sebaceus of Jadassohn: A Study of 13 Cases

Dermoscopic Analysis of Nevus Sebaceus of Jadassohn: A Study of 13 Cases

Naevus sebaceus: a mosaic RASopathy

Cauliflower scare

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