Skin nonmelanocytic tumor
Adnexal tumors
Sebaceous glands
Nevus sebaceus of Jadassohn
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PubMed Search: Nevus sebaceus of Jadassohn
Table of Contents
Definition / general | Essential features | Terminology | ICD coding | Epidemiology | Sites | Pathophysiology | Etiology | Clinical features | Diagnosis | Prognostic factors | Case reports | Treatment | Clinical images | Gross description | Microscopic (histologic) description | Microscopic (histologic) images | Virtual slides | Molecular / cytogenetics description | Videos | Sample pathology report | Differential diagnosis | Additional references | Board review style question #1 | Board review style answer #1 | Board review style question #2 | Board review style answer #2Cite this page: Knittel R, Ardakani NM. Nevus sebaceus of Jadassohn. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/skintumornonmelanocyticnevussebaceus.html. Accessed April 19th, 2024.
Definition / general
- Nevus sebaceus of Jadassohn (sebaceous nevus, organoid nevus) is a hamartoma that is histologically characterized by a complex and abnormal proliferation of epidermis and adnexal structures
- Clinically manifests as a congenital, yellow-orange mamillated patch / plaque with alopecia typically occurring on the scalp and face
Essential features
- Hamartomatous proliferation of epidermis and adnexal structures that commonly presents at birth as a single yellow patch of alopecia on the scalp, becomes verrucous during childhood and puberty and shows variable enlargement during adulthood (due to development of a range of often benign and occasionally / rarely malignant tumors)
- Unusual anatomical presentation and appearance as well as rare association with systemic syndromes (often with neurologic and developmental abnormalities) can occur
- New genomic data suggest that nevus sebaceus may represent a mosaic RASopathy, often originating from a portion of skin with HRAS / KRAS mutations; this further explains the rare association with other developmental syndromes and intralesional growth of neoplasms
- The common types of secondary neoplasm include syringocystadenoma papilliferum, trichoblastoma-like tumor, trichilemmoma and sebaceous neoplasms
- Development of malignant neoplasms (mainly basal cell carcinoma) in nevus sebaceus is a rare phenomenon (< 1% of lesions in a large series) and almost always occurs during adulthood
Terminology
- Organoid nevus; though sometimes used as a generic term for the group of cutaneous hamartomatous lesions (see epidermal nevus)
- Nevus sebaceous; a common misspelling combining the Latin term nevus sebaceus with the English equivalent term sebaceous nevus
ICD coding
- ICD-10: Q82.5 - congenital nonneoplastic nevus
Epidemiology
- Present at birth or develops in early childhood, with a prevalence of 0.3% in newborns
- F = M
- Affects all races and ethnicities
- Very low rate of malignant transformation, estimated to be ~0 - 0.8% (CMAJ 2019;191:E765)
- Can be associated with the following syndromes:
- Phacomatosis pigmentokeratotica
- SCALP syndrome (sebaceus nevus syndrome, CNS symptoms, aplasia cutis, limbal dermoid and pigmented nevus with neurocutaneous melanosis)
- Linear sebaceus nevus syndrome, i.e Schimmelpenning–Feuerstein–Mims syndrome (organoid nevi, abnormalities of the central nervous system and eyes, oral lesions and skeletal defects)
- Up to 19% are associated with a secondary benign lesion (J Am Acad Dermatol 2014;70:332)
- Reference: Calonje: McKee's Pathology of the Skin, 5th Edition, 2019
Sites
- Nearly all lesions occur on the scalp, forehead or face
- Rare sites of presentation include trunk, breast, extremities and perineal region (Medicine (Baltimore) 2021;100:e25047)
Pathophysiology
- Nevus sebaceus is now considered as a mosaic RASopathy with postzygotic somatic mutations of the Ras protein family, mainly due to HRAS and rarely KRAS mutations, in a section of the skin
- RAS mutations are also present in secondary tumors in nevus sebaceus (e.g., trichoblastomas)
- Reference: Calonje: McKee's Pathology of the Skin, 5th Edition, 2019
Etiology
- No relevant etiology
- While HPV infection had been speculated to be an etiological factor, further and more comprehensive research has failed to establish a link between HPV infection and development of nevus sebaceus (J Am Acad Dermatol 2008;59:279, Pediatr Dermatol 2014;31:326)
Clinical features
- Clinical appearance of the lesion can change over time
- In infancy, nevus sebaceus is usually a smooth hairless patch
- During puberty (under hormonal influence), it can undergo rapid growth becoming more verrucous with tightly arranged yellowish waxy papules
- In adulthood, further enlargement can occur due to the development of intralesional neoplasms
- Nevus sebaceus, often in the form of a giant lesion involving large areas of head and neck, can be associated with a range of ophthalmic and neurologic anomalies (nevus sebaceus syndrome); seizures and neurologic anomalies have also been reported as part of epidermal nevus syndrome (CMAJ 2019;191:E765, Pediatr Dermatol 1999;16:211)
- Linear and zosteriform presentations have been described
Diagnosis
- Usually clinically suspected and diagnosed
- Skin biopsy may be required for confirmation or assessment of secondary benign or rarely malignant neoplasms developing in the lesion
Prognostic factors
- Generally, nevus sebaceus will follow a benign course
- Incidence of development of malignant neoplasms (e.g., basal cell carcinoma, squamous cell carcinoma, sebaceous carcinoma) in nevus sebaceus is extremely rare (< 1%); a significantly higher rate (up to 20%) reported in some older studies is likely due to misclassification and inclusion of trichoblastoma-like tumors (J Dermatol 2016;43:175, CMAJ 2019;191:E765)
Case reports
- 13 year old girl with nevus sebaceus and secondary squamous cell carcinoma (Cutis 2019;103:E17)
- 48 and 82 year old women with malignant tumors arising from nevus sebaceus (Diagnostics (Basel) 2022;12:1448)
- 67 year old woman with nevus sebaceus and multiple secondary neoplasms (Dermatol Online J 2020;26:13030)
Treatment
- Generally safe to observe
- Surgical excision as a cosmetic procedure or to remove a secondary neoplasm
- Superficial procedures such as shave removal, dermabrasion or laser resurfacing are typically unsuccessful due to incomplete removal of the lesion (Am J Clin Dermatol 2015;16:197)
Clinical images
Images hosted on other servers:
Yellow-orange plaque with alopecia
Soft elastic, painless formations
Newborn cerebriform nevus sebaceus
Scalp vertex lesion
Gross description
- Well defined, hairless yellow patches or plaques, 1 - 6 cm in diameter
- Some with mamillated or waxy appearance
- Reference: Calonje: McKee's Pathology of the Skin, 5th Edition, 2019
Microscopic (histologic) description
- Well circumscribed and complex proliferation and alteration of epidermis and adnexal structures that often changes with age
- Prepubertal lesions are broad with primitive hair follicles and markedly decreased terminal hairs (hair follicles are usually vellus)
- Sebaceous glands can be increased or decreased based on the age and associated hormonal effect and can show an abnormal distribution and configuration; they can also be located higher than normal in the dermis without connection to a hair follicle and with direct opening onto the epidermal surface
- Additional features are variably seen and include:
- Increased acanthosis, papillomatosis and basal epidermal melanin pigmentation
- Presence of an inflammatory infiltrate
- Ectopic apocrine glands (up to half of cases and occasionally dilated)
- Anomalous ductal sweat gland structures resembling eccrine hyperplasia
- Secondary neoplasms occur, namely trichoblastoma-like tumor, trichilemmoma, syringocystadenoma papilliferum and sebaceous gland neoplasms
- References: Int J Dermatol 2016;55:193, Calonje: McKee's Pathology of the Skin, 5th Edition, 2019
Microscopic (histologic) images
Contributed by Ronan Knittel, M.D. and Sara C. Shalin, M.D., Ph.D.
Abnormal epidermal / pilosebaceous alterations
Abnormal pilosebaceous units
Abnormal sebaceous glands
Anomalous sweat glands
Epidermal acanthosis / papillomatosis
Ectopic apocrine glands
Abnormally configured apocrine glands
Sebaceous hyperplasia
Syringocystadenoma papilliferum
Trichoblastoma-like tumor
Basaloid proliferations
Syringocyst-
adenoma papilliferum
Basaloid buds
Immature sebocytes
Apocrine glands
Virtual slides
Images hosted on other servers:
Nevus sebaceus
Nevus sebaceus
Molecular / cytogenetics description
- Typically not required for diagnosis
- Associated with activating HRAS p.Gly13Arg and KRAS p.Gly12Asp mutations (J Invest Dermatol 2013;133:824)
- Deletion of PTCH gene has also been implicated in pathogenesis in limited studies; further confirmation is required (Cancer Res 1999;59:1834)
- Activating FGFR2 mutations appear fairly specific for cerebriform nevus sebaceus (J Eur Acad Dermatol Venereol 2021;35:2085)
- Postzygotic mosaic NRAS mutation was identified in a nevus sebaceus in a patient with Schimmelpenning syndrome (Am J Med Genet A 2015;167A:2223)
Videos
Nevus sebaceus in 5 minutes
Nevus sebaceus
Nevus sebaceus with associated benign hair follicle tumors
Nevus sebaceus (not SebaceOus!)
Sample pathology report
- Skin, scalp, excision:
- Nevus sebaceus (see comment)
- Comment: The sections of scalp skin demonstrate a well circumscribed broad area of epidermal and adnexal proliferation. The lesion is characterized by marked epidermal acanthosis, papillomatosis and hyperkeratosis overlying lobules of hyperplastic and abnormally configured sebaceous glands. There are dilated apocrine glands in the dermis with a superficial dermal lymphoplasmacytic inflammation. There is no evidence of an associated neoplastic growth or malignancy in the material examined.
Differential diagnosis
- Epidermal nevus:
- Often clinically presents on the extremities, trunk and neck as linear lesions following Blaschko lines
- Histologically similar epidermal changes but without sebaceous gland alterations
- Mesa sign (i.e., the tips of the epidermal papillations are flattened)
- Normal dermis, usually with no associated adnexal structures
- Sebaceous hyperplasia:
- Increased sebaceous glands, usually with no primary epidermal changes
- Seborrheic keratosis:
- Unusual diagnosis in children / young adults
- Some overlapping epidermal changes without adnexal / sebaceous alterations
- Presence of keratin horn cysts and squamous eddies
- Acanthosis nigricans:
- Usually in flexural areas of the body, particularly the axilla
- Associated with an underlying metabolic disorder or malignancy
- Hyperkeratosis and papillomatosis but mild acanthosis and no dermal inflammation or adnexal / sebaceous alterations
Additional references
Board review style question #1
A histologic image from an excisional biopsy from the scalp of a 17 month old child is shown above. What is the most likely diagnosis?
- Dilated pore of Winer
- Nevus sebaceus
- Sebaceous adenoma
- Sebaceous hyperplasia
- Seborrheic keratosis
Board review style answer #1
Board review style question #2
An incisional biopsy from the scalp of a 2 year old boy was performed; the histology is shown above. Which of the following alterations is most likely to occur in the lesion during puberty if not completely excised?
- Development of secondary malignant neoplasms
- Enlargement due to sebaceous gland hyperplasia
- Epidermal atrophy
- Spontaneous regression
Board review style answer #2
B. Enlargement due to sebaceous gland hyperplasia
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Reference: Nevus sebaceus of Jadassohn
Comment Here
Reference: Nevus sebaceus of Jadassohn
