More Than Skin Deep: A Case of Nevus Sebaceous Associated With Basal Cell Carcinoma Transformation

Maty, Shauna; Salana, Kristen; Radu, Mihaela; Beiu, Cristina; Hage, Robert

doi:10.7759/cureus.9386

Cited by 4 publications

(3 citation statements)

References 12 publications

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“…In accordance with the majority of patients with ENS, the pigmented lesions in our patient are located on the face, neck, truncus, and extremity cutaneous lesions [8], accompanied by various developmental abnormalities of the skin, eyes, and nervous, cardiac, and urogenital systems [9,10]. Our patient displayed severe neurological clinical manifestations including medical refractory seizures, mental retardation, and severe quadriplegia, indicative of epidermal nevus syndrome [11].…”

Section: Discussionsupporting

confidence: 84%

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature

Deng

Liu

et al. 2022

J Med Case Reports

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Background Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal abnormalities. Epidermal nevus syndrome is a rare syndrome, and epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction is even rarer and has not been reported to the best of our knowledge. Case presentation We report the case of a 10-month-old Chinese female patient who presented to our pediatric neurologic department, University of Wenzhou medical teaching Hospital, Hangzhou. She has mobility disorders on the right limbs and recurrent seizures. She had congenital disorder accompanied by brownish-black and verrucose plaques on the right side of the face as well as extensive brownish-black plaques and brown nevi on the right side of the trunk and the right arm. Epidermal nevus syndrome was diagnosed on the basis of her symptoms. Somatic sebaceous nevi and hypoplastic defects of skin, cerebra, eyes, skeleton, and cardiovascular and renal system were observed. However, in addition to the typical clinical characteristics, the patient also has a mutation (c.109G > T) in PTCH1 gene and cerebral infarction. We present a novel case report and literature review. Conclusion To our knowledge, epidermal nevus syndrome with a mutation of PTCH1 gene and cerebral infarction has not been reported previously. This case report may contribute to characterizing the phenotype of epidermal nevus syndrome, help clinicians be aware of the association of this condition with PTCH1 gene and cerebral infarction, raise clinical suspicion, and improve early therapy.

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Section: Discussionsupporting

confidence: 84%

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature

Deng

Liu

et al. 2022

J Med Case Reports

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“…About 0.3% of all newborns may have SN, with an equal incidence in males and females. This is due to post‐zygotic somatic mutations involving the Ras protein family 1 . SN appear most commonly on the scalp, but can happen anywhere else on the body, and start off as smooth yellowish well‐circumscribed plaques in infancy and then develops a verrucous appearance in adolescence due to hormonally‐driven maturation of sebaceous and apocrine glands.…”

Section: Discussionmentioning

confidence: 99%

Papular lesion occurring within a longstanding warty plaque, in skin of colour Fitzpatrick type 4–5

Teoh,

Gan,

Ramalingam

et al. 2024

Skin Health and Disease

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A 23‐year‐old man of South Asian descent, Fitzpatrick type 4–5 skin, usually fit and well, presented with a 6‐month history of a darkly‐pigmented papular lesion growing within a pre‐existing warty plaque on the left parietal scalp, present since birth. The base plaque measured 30 × 10 mm, whilst the new papule measured approximately 3 × 3 mm. These were asymptomatic and there was no preceding trauma to the area. Examination revealed a pearlescent darkly pigmented papule, growing within a warty pink‐yellow hairless plaque. Dermoscopy showed non‐specific features with evidence of some disorganized vasculature. A punch excisional biopsy of the papular lesion was obtained, histopathology indicated a polypoid lesion with basaloid nests in a superficial and nodular distribution extending to the superficial dermis. The base plaque was then completely excised, showing dermal scarring related to the previous excision, along with the presence of large sebaceous glands, heterotopic apocrine glands, defective hair follicles, acanthosis and epithelial papillomatosis. This is a case of a basal cell carcinoma (BCC) arising within a sebaceous naevus on the scalp, in a skin of colour patient. Sebaceous naevi (SN), also known as naevus sebaceous of Jadassohn, are benign hamartomatous malformations comprised of predominantly sebaceous glands. SN appear most commonly on the scalp, and start off as smooth yellowish well‐circumscribed plaques in infancy which then develops a verrucous appearance in adolescence due to hormonally‐driven maturation of sebaceous and apocrine glands. It is well known that benign neoplasms of various lineages of differentiation including follicular, sebaceous, apocrine or eccrine, may arise within SN. Malignant neoplasms occurring within SN almost exclusively occur in adults, and arise in about 2.5% of lesions. BCCs are the most common among these, and occur in 0.8% of SN. Other malignant tumours such as squamous cell carcinoma, sebaceous carcinoma, microcystic adnexal carcinoma and porocarcinoma can also arise within SN, but these are rarer. Our case is notable as our patient had Fitzpatrick skin type 4–5, hence may have been perceived to have a lower risk of developing BCCs. We hope that this report will highlight that BCCs do arise even in skin of colour.

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“…The histopathological findings of our study were compatible with sebaceous hyperplasia; however, the dog did not show any elevated solid masses, and the symptom onset was early in life. Nevus, a rare type of congenital birthmark in both humans and animals, was also considered 3,6) .…”

Section: Discussionmentioning

confidence: 99%

脂腺過形成に関連した腹部毛包性色素斑が自然消退した若いボルゾイの1例

2022

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More Than Skin Deep: A Case of Nevus Sebaceous Associated With Basal Cell Carcinoma Transformation

Cited by 4 publications

References 12 publications

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature

Papular lesion occurring within a longstanding warty plaque, in skin of colour Fitzpatrick type 4–5

脂腺過形成に関連した腹部毛包性色素斑が自然消退した若いボルゾイの1例

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