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Angiofibroma

Authors: Claire Jordan Wiggins, Riyad N.H. Seervai, Medical Students, Baylor College of Medicine, Houston, Texas, USA. DermNet NZ Editor in Chief: Adjunct A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand. Copy edited by Gus Mitchell. April 2020.


Angiofibroma — codes and concepts
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What is an angiofibroma?

A cutaneous angiofibroma is a benign vascular neoplasm composed of dermal fibrous tissue and blood vessels.

Angiofibroma is classified by association with a genetic disorder or according to its body site [1].

Who gets angiofibromas?

Angiofibromas are associated with the following genetic disorders:

Angiofibromas are more commonly acquired.

Tuberous sclerosis

Tuberous sclerosis is a neurocutaneous autosomal dominant syndrome, in which angiofibromas appear in childhood in the nasolabial folds and on the central face [2]. Patients with tuberous sclerosis commonly develop an oral fibroma or a periungal angiofibroma (Koenen tumour) over time [1]. The facial angiofibromas associated with tuberous sclerosis are also called adenoma sebaceum, juvenile angiofibroma, and Pringle tumour.

Angiofibromas in tuberous sclerosis

Birt-Hogg-Dubé syndrome

Facial angiofibromas have been reported in Birt-Hogg-Dubé syndrome, a rare genodermatosis characterised by skin and renal tumours, as well as spontaneous pneumothorax [3]. Most of the cutaneous lesions however are fibrofolliculomas, which are abnormal growths of the hair follicles.

Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1 is a hereditary syndrome that leads to tumours in several endocrine organs [1].

Acquired angiofibroma

Angiofibromas can also be acquired and unrelated to a genetic syndrome, commonly in the form of:

A fibrous papule is characteristically found in adults as a solitary lesion usually on the nose, often clinically mistaken for a basal cell carcinoma or melanocytic naevus. It is thought to be a form of dermal naevus.

Multiple pearly penile papules occur in 10–30% of adult males on the coronal edge and sulcus. They can be mistaken for viral warts [1,2].

Fibrous papule

See penile pearly papules images.

What causes angiofibromas?

Angiofibromas are caused by a local overgrowth of collagen, fibroblasts, and blood vessels.

  • In tuberous sclerosis, mutations are present in tuberous sclerosis complex 1 (TSC1), which encodes the protein hamartin, and tuberous sclerosis complex 2 (TSC2) which encodes the protein tuberin.
  • Birt-Hogg-Dubé syndrome is due to a mutated FLCN gene, which encodes the protein folliculin [3].
  • Multiple endocrine neoplasia type 1 results from a mutation in the MEN1 gene which produces the protein menin [1].

Genetic mosaicism for these genetic conditions must also be considered [4]. What specifically triggers the development of angiofibroma is unknown.

What are the clinical features of angiofibroma?

An angiofibroma is a firm, flesh-coloured dome-shaped papule less than 5 mm in diameter. Small capillaries may be visible on the surface of the lesion.

  • Facial angiomas associated with a genetic syndrome are commonly found in clusters in the butterfly region of the face.
  • A fibrous papule of the face is usually a solitary lesion located on the nose in an adult.
  • Pearly penile papules are 1–3 mm skin coloured or white papules in a row along the penile coronal margin [5].

What are the complications of angiofibromas?

Angiofibromas may be itchy and may also bleed. Those associated with genetic syndromes result in facial disfigurement and stigmatisation [1]. See Psychosocial factors in dermatology.

How are angiofibromas diagnosed?

The diagnosis of angiofibroma may be made clinically or after a skin biopsy. The histopathology of angiofibroma shows an ‘onion skin’ pattern around vessels and follicles, hyperkeratosis, and vascular proliferation [5].

If an underlying genetic condition is suspected, appropriate genetic screening and evaluation are required [1].

What is the differential diagnosis for angiofibromas?

The differential diagnosis for angiofibroma depends on its location [1].

Differential diagnoses for facial lesions that can resemble angiofibromas can include:

Differential diagnoses for periungual lesions that can resemble angiofibroma can include:

Differential diagnoses for penile lesions that can resemble angiofibroma can include:

What is the treatment for angiofibroma?

Angiofibromas are benign and do not always require removal. Options for treatment of angiofibromas include:

Multiple treatments are often necessary [1].

What is the outcome for angiofibromas?

Although angiofibromas are benign, they are persistent. Angiofibromas can be removed for cosmetic or pain-related reasons. The recurrence rate for angiofibromas associated with tuberous sclerosis may be as high as 80% [1].

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References

  1. Macri A, Tanner LS. Cutaneous Angiofibroma. StatPearls; Treasure Island: StatPearls Publishing; 2020. PubMed
  2. Billings SD, Goldblum JR. Soft tissue tumors and tumor-like reactions. In: Dermatopathology. Elsevier Inc.; 2010: 499–564. doi: 10.1016/B978-0-443-06654-2.00013-5.
  3. Schaffer JV, Gohara MA, McNiff JM, Aasi SZ, Dvoretzky I. Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome. J Am Acad Dermatol. 2005;53(2 Suppl 1):S108-11. doi:10.1016/j.jaad.2004.11.021. PubMed
  4. Cohen BA. Nodules and tumors. In: Pediatric Dermatology: Fourth Edition. Elsevier Inc.; 2013: 126–47. doi: 10.1016/B978-0-7234-3655-3.00005-9.
  5. Johnston RB. Fibrous tumors and tumor-like proliferations. In: Weedon’s Skin Pathology Essentials. Elsevier; 2017: 612–39. doi:10.1016/b978-0-7020-6830-0.50034-7.
  6. Krakowski AC, Nguyen TA. Inhibition of angiofibromas in a tuberous sclerosis patient using topical timolol 0.5% Gel. Pediatrics. 2015;136(3):e709-13. doi:10.1542/peds.2015-0025. Journal

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