Adenoma sebaceum Q85.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

angiofibroma; Angiofibroma; facial angiofibromas; Pringle tumor; Tuberous sclerosis complex

History
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Pringle, 1890

Definition
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Misleading term for a dermatological clinical picture with centrofacially localized, "acne-like" angiofibromas, isolated as minus variant or partly symptomatic, in the multi-organic "tuberous sclerosis complex" (= M. Pringle or Pringle-Bourneville phacomatosis, see Tuberous Sclerosis).

Remark: The dermatological symptoms are often the initial leading symptom of the underlying systemic disease and thus require histological verification, so that a reliable dermatological diagnosis can be made (see also other dermatological and monitoring signs of tuberous sclerosis).

Occurrence/Epidemiology
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In 90% of patients with Pringle-Bourneville phacomatosis lasting longer than 4 years.

Etiopathogenesis
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Autosomal-dominantly inherited mutations of the genes TSC1 (Tuberous Sclerosis gene 1; gene locus 9q34) and TSC2 (Tuberous Sclerosis gene 2; gene locus 16p13.3), which lead to disorders of the proteins hamartin (TSC1) and tuberin (TSC2), respectively. The disturbance of the physiological function of both proteins as growth regulators of nerve cells during embryonic development is discussed.

Manifestation
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Already becoming manifest in early childhood (3-10 years). With increasing age, especially postpubertal manifestations.

Localization
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face, symmetrical centrofacial, nose, cheeks, forehead

Clinical features
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In an acne-typical distribution pattern, multiple, disseminated, reddish-brownish, partly also skin-coloured, soft, 0.1-0.4 cm large, symptom-free papules. In the course of life, the primary efflorescences aggregate and grow, so that plaques and nodules can be observed in addition to papules. At first glance, an "acne-like" picture appears, often combined with seborrhoea. In contrast to acne, pustules and comedones are always missing.

Histology
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  • Thickened connective tissue stroma with pronounced lacunar vasculopathy. Epidermis unremarkable or irregularly acanthotic. Isolated cells with PAS-positive inclusions as well as with spindly or oval, clumpy nuclei.
  • Immunohistology: Frequent detection of factor XIIIa-positive cells (FXIIIa is expressed on dermal dendritic cells).

Differential diagnosis
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  • Basal cell carcinoma: No symmetry in appearance, no preferred disseminated nasolabial pattern.
  • Acne vulgaris: No acute adenoma sebaceum, no comedones and pustules.
  • Trichoepitheliomas: Skin-coloured, symptomless, mostly glassy, 0.2-0.5 cm large nodules in nasolabial arrangement.
  • Cylindromas: Either solitary or multiple occurrence. Occurs mainly on the capillitium. The nodules or nodules are clearly larger than in Adenoma sebaceum. Brooke-Spiegler syndrome must be distinguished from solitary cylindromes (multiple cylindromes, possibly in combination with other adnexal tumours).
  • Syringomas: Mostly skin-coloured nodules, hardly 0.2 cm in size, appearing in plural; mostly localized in the eyelid region.

Therapy
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In case of cosmetic disorder, removal by dermabrasion, laser treatment( Erbium-YAG laser, CO 2 laser), electrocautery or cryosurgery.

External therapy
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In individual cases good results were achieved with the local application of Everolimus and Sirolimus ointment.

Internal therapy
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It describes little successful experiments with isotretinoin (acne normin; isotretinoin-ratiopharm;) initial 0.5-0.8 mg/kg bw/day p.o., maintenance dose with 0.1-0.3 mg/kg bw/day p.o. S.a.u. retinoids.

Progression/forecast
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Slowly progressive, recurrence rate after therapy.

Literature
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  1. Dill PE et al (2014) Topical everolimus for facial angiofibromas in the tuberous sclerosis complex. A first case report. Pediatric Neurol 51:109-113
  2. Pringle JJ (1890) A case of congenital adenoma sebaceum. Br J Dermatol 2: 1-14
  3. Greve B, Raulin C (2003) Medical dermatologic laser therapy. A review. dermatologist 54: 594-602

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020