Dermatology Online Journal

Numerous fibrous papules of the face unassociated with any genodermatosis
Jamie Elifritz MD¹, Ravi S Krishnan MD², Heidi Donnelly¹
Dermatology Online Journal 13 (4): 12

1. Dayton Skin Surgery Center.e-mail:elifritz.3@wright.edu 2. :Department of Dermatology, Indiana University School of Medicine

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Abstract

Numerous angiofibromas on the face are commonly associated with tuberous sclerosis or multiple endocrine neoplasia type 1. We present a healthy 66-year-old female with numerous facial angiofibromas, without evidence of tuberous sclerosis, multiple endocrine neoplasia type 1, or any of the less common syndromes associated with many angiofibromas on the face. To our knowledge, there have been no previously reported cases of patients with numerous facial angiofibromas who did not have an associated genodermatosis.

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Clinical synopsis

A 66-year-old healthy woman was referred to our practice for evaluation of multiple skin-colored papules on the face. The papules first appeared 50 years earlier. At the time the lesions had first appeared, the patient had been told by her dermatologist that the lesions were trichoepitheliomas. She had never had any skin biopsies, but some of the lesions were removed with curettage and light hyfrecation. She never applied any medications to her face with the exception of intermittent pimecrolimus cream, which her primary care physician had prescribed for occasional, mild pruritus that was associated with the lesions. On physical examination, she was noted to have approximately 100-150 1-10 millimeter skin-colored papules predominantly located on the cheeks, but also present on the nose, forehead, and cutaneous portion of the lip.

Figure 1	Figure 2
Figure 1. Clinical photograph of patient with multiple fibrous papules
Figure 2. Closer view

Biopsies were taken from four of the lesions for histopathologic examination. Representative findings can be seen in Fig. 3 and include fibrosis and an increased number of blood vessels in the upper dermis. Based on these findings, a diagnosis of angiofibroma was made.

Figure 3
Figure 3. Photomicrograph showing histopathology of the lesions

At this point, a more detailed history was obtained from the patient. Her only medical problems were osteoarthritis (for which she took acetaminophen) and mild gastroesophageal reflux (for which she took omeprazole). Also of note, the patient had a history of seizures 40-50 years prior to presentation, which were successfully treated with phenytoin. Since the onset of the seizures, the patient had multiple brain MRI studies, all of which were unremarkable. Furthermore, she has not had any further seizures or taken phenytoin for over 35 years.

The patient had no family history, signs, or symptoms of either tuberous sclerosis or endocrine disorders. She also denied having family members with skin lesions similar to hers. She had an entirely unremarkable neurological examination, and a full skin examination failed to reveal any stigmata of tuberous sclerosis, including ash-leaf macules, café-au-lait macules, shagreen patches, or periungual fibromas. She reported that all of her routine ophthalmologic and dental examinations had been normal. She also denied any symptoms associated with endocrine disorders, and a full endocrine work-up was unremarkable. Based on this lack of other findings which may be associated with multiple angiofibromas, we determined that this patient's angiofibromas were simply multiple fibrous papules and not associated with any syndrome.

Comment

Angiofibromas are common benign neoplasms. Classically, they appear as small, firm, discrete, skin-colored papules. They usually develop on the faces of adults. Generally, angiofibromas can be readily diagnosed on the basis of clinical and histologic criteria. There are four main clinical variants of angiofibromas: fibrous papules, adenoma sebaceum, Koenen tumors, and pearly penile papules [1]. These lesions are clinically distinct, yet histologically similar.

Fibrous papules on the face usually arise as single lesions; however, occasionally multiple (i.e., normally less than 10) lesions may be present [2]. Occurring predominantly on the nose, these lesions are generally 1-5 mm, shiny, skin-colored, firm, dome-shaped papules. The lesions observed on our patient were clinically most similar to fibrous papules.

Lesions of adenoma sebaceum are discrete, firm, reddish papules that frequently develop in the nasolabial folds during late childhood to early adolescence, increasing in size and number during puberty [3]. They are strongly associated with tuberous sclerosis. Koenen tumors are another clinical variant of angiofibromas that are associated with tuberous sclerosis [3]. Clinically presenting as subungual and periungual fibromas, Koenen tumors develop around the time of puberty and appear as firm, smooth, skin-colored papules 5-10 millimeters in diameter.

Pearly penile papules are another relatively common type of angiofibroma. They are small, dome-shaped to filiform, skin-colored papules situated circumferentially around the corona or sulcus of the penis. Pearly penile papules occur on approximately 10 percent of males, and they are more common on those who are uncircumcised [4].

The clinical differential diagnosis of angiofibromas includes adnexal tumors, such as trichoepitheliomas, and basal cell carcinoma. However, histopathologic examination of a lesion will readily distinguish angiofibromas from these other entities. Furthermore, when numerous and located on the face, angiofibromas are commonly associated with tuberous sclerosis [3] or multiple endocrine neoplasia type I [5, 6]. Therefore, in patients with multiple fibrous papules on the face, these other conditions should be excluded by thorough history-taking, comprehensive physical examination, and appropriate diagnostic testing.

There have been also rare reports of multiple fibrous papules in association with type-II neurofibromatosis [7], Cowden disease [8], Birt-Hogg-Dube syndrome [9], and Hornstein-Knickenberg syndrome, which some authors believe is a variant of Birt-Hogg-Dube syndrome [10, 11]. Our patient had no signs or symptoms of any of these syndromes. We offered the patient imaging studies to further investigate the possibility of Birt-Hogg-Dube syndrome, but she declined. However, because the patient has no affected family members and no other stigmata, we believe that a diagnosis of Birt-Hogg-Dube is unlikely.

Histologically, angiofibromas are characterized by a proliferation of numerous hyperplastic blood vessels with perivascular and periadnexal fibrosis [12]. This fibrous tissue often consists of stellate fibroblasts, some of which may be multinucleated [12]. Periodically, scattered lymphocytes and a sparse inflammatory cell infiltrate can be appreciated [2]. Numerous different histological subtypes of angiofibroma have been described [2, 12, 13]. These subtypes all share the aforementioned histologic features, which are found in all angiofibromas, but, in addition, each described subtype has a certain unique quality that renders it distinct.

Several options are available for the removal of fibrous papules. We routinely employ surgical procedures such as curettage, shave excision, or elliptical excision with excellent cosmetic results. Successful treatment with various lasers, including the pulsed dye laser [14, 15, 16, 17], CO₂ laser [16, 17], KTP laser [18], and argon laser [17]. Our patient stated that the appearance of the lesions was of little concern to her, so she was not interested in treatment.

To our knowledge, this is the only reported case of a patient with so many angiofibromas on the face that are not associated with a genetic syndrome. We routinely encounter patients with solitary or even several fibrous papules on the face. The prodigious number of angiofibromas which our patient had is certainly far greater than that which is normally seen in patients with fibrous papules and suggested to us that they may be a part of a larger disease process. However, after a thorough evaluation, our patient demonstrated no evidence of a genodermatosis or other syndrome. Therefore, we feel that her lesions are simply multiple fibrous papules.

References

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