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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.


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 most commonly associated with the following genetic disorders:

Angiofibromas can also be 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]. A facial angiofibroma associated with tuberous sclerosis is also called adenoma sebaceum, juvenile angiofibroma, and Pringle tumour.

Angiofibromas in tuberous sclerosis

Birt-Hogg-Dubé syndrome

Facial angiofibromas are also found 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 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

An angiofibroma 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 facial lesion, often clinically mistaken for a basal cell carcinoma or melanocytic naevus. It is thought to be the result of an involuting dermal melanocytic 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 [5]. 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 typically presents as a solitary lesion on the nose of a middle-aged adult.
  • Pearly penile papules are 1–3 mm skin coloured or white papules in a row along the penile coronal margin [4].

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.

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 highly 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. doi: 10.1016/j.jaad.2004.11.021. PubMed
  4. 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.
  5. 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.

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