Adenoma sebaceum Q85.1

Pringle, 1890

Misleading name for a dermatological clinical picture with centrofacially localized, "acne-like" angiofibromas occurring (isolated as a minus variant) in the multiorganic "tuberous sclerosis complex" (= Pringle ' s disease or Pringle-Bourneville's phacomatosis, see tuberous sclerosis).

Remark: The dermatological symptomatology is not infrequently the initial leading symptom of the underlying systemic disease and thus requires histological verification so that a reliable diagnosis can already be made on the dermatological side (see also the other dermatological-monitoric signs of tuberous sclerosis).

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

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.

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

face, symmetrical centrofacial, nose, cheeks, forehead

Multiple, disseminated, reddish-brownish, sometimes skin-colored, soft, asymptomatic papules with an atypical distribution pattern, ranging in size from 0.1 to 0.4 cm. Over the course of a person’s life, the primary lesions aggregate and grow, resulting in the appearance of plaques and nodules in addition to papules. At first glance, the presentation resembles “acneiform” lesions, often combined with seborrhea. Unlike acne, pustules and comedones are always absent. 

• 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).

• 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.

For cosmetic concerns, removal can be performed using dermabrasion, laser treatment( erbium-YAG laser, _CO₂ laser), electrocautery, or cryosurgery.

In individual cases, good results have been achieved with the topical application of Everolimus and Sirolimus ointment.

On October 1, 2023, Hyftor (sirolimus) was launched as a new topical medication in Germany. It is used to treat facial angiofibromas associated with tuberous sclerosis and is approved for adults, children and adolescents aged 6 years and older.

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.

Slowly progressive, recurrence rate after therapy.

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