Congenital annular multiple ®brofolliculomas occurring withdeformity of the ear and ventricular septal defect

Y.M.PARK, S.H.HAM, S.H.CHO, I.J.KIM* AND B.K.CHO

Departments of Dermatology and *Plastic Surgery, Our Lady of Mercy Hospital, College of Medicine, The Catholic University of

Korea, 665 Bupyung-dong, Bupyung-gu, Inchon, 403-720, Korea

Accepted for publication 3 March 1999

Summary We describe a 5-year-old girl who had multiple ®brofolliculomas with an unusual annular

con®guration, present since birth, localized to the mid-back. She had no family history of similarskin lesions. Examination showed a depigmented patch on her left buttock and other congenital

anomalies, i.e. deformity of the auricle of the ear and ventricular septal defect. There has been no

previous report of congenital multiple ®brofolliculomas occurring with congenital malformationssuch as deformity of the auricle of the ear and ventricular septal defect. The congenital occurrence

and unusual con®guration of the lesions in our patient may suggest a naevoid origin for these

tumours.

Key words: congenital, ear deformity, multiple ®brofolliculomas, ventricular septal defect

Fibrofolliculomas are rare benign tumours of the peri-

follicular connective tissue. They may be solitary or

multiple. Clinically, multiple tumours typically appearas small, dome-shaped, yellowish or skin-coloured

papules, scattered over the face, neck and upper

trunk, after the age of 25 years.1 They usually showautosomal dominant inheritance, although sporadic

cases have occasionally been described.2,3 Most

reported tumours have been associated with tricho-discomas, acrochordons2±4 and connective tissue

naevus,5 and only two cases have been presented in

the pure form.1,6 We report a young girl with congenitalannular multiple ®brofolliculomas associated with

other congenital anomalies.

Case report

A 5-year-old girl was referred because of multiplegrouped asymptomatic skin lesions, present since

birth, which had slowly increased in size and number.

She had had a ventricular septal defect corrected bysurgery at 1 year of age, when she already had multiple

papular lesions on her back. She also had a depigmented

patch on her left buttock, and deformity of the auricle ofthe ear. Examination revealed multiple grouped skin-

coloured, ®rm, smooth, dome-shaped papules, 2±4 mm

in diameter, in an annular con®guration, on the rightmid-back area, with a total of about 20 lesions (Fig. 1a).

Some of them showed a linear arrangement. She also

had a solitary ill-de®ned depigmented patch on her left

buttock and a cup-shaped deformity of the right auricle(Fig. 1b).

Multiple punch biopsies from ®ve papular lesions and

one excision biopsy from four papules linearly arrangedwere obtained and all specimens were serially sectioned.

All biopsy specimens showed similar histopathology.

The lesions consisted of a well-de®ned tumour massinvolving a group of adjacent pilosebaceous follicles.

Each individual lesion showed in its centre a distorted

hair follicle which was surrounded by a thick mantle ofbasophilic, mucoid stroma. Multiple thin anastomosing

bands of follicular epithelium extended from the central

follicle into the surrounding stroma (Fig. 2a). A well-demarcated round or oval proliferation of connective

tissue surrounded the epithelial components. The

stroma consisted of loose, mucin-rich, ®nely ®brillarconnective tissue with increased numbers of ®broblasts

and blood vessels (Fig. 2b). Special stains showed abun-

dant acid mucopolysaccharides and reticulum ®bres;elastic ®bres were sparse or absent. These histological

®ndings were typical for ®brofolliculomas. None of the

specimens showed features of perifollicular ®broma,trichodiscoma or other adnexal tumours of follicular

or perifollicular connective tissue origin. A biopsy

from the depigmented patch showed decreased mela-nocytes in the basal layer, which was diagnostic of

British Journal of Dermatology 1999; 141: 332±334.

332 q 1999 British Association of Dermatologists

naevus depigmentosus, because it had been present

since birth.

Discussion

Fibrofolliculomas have been described in a variety

of clinical situations as either solitary or multiple

lesions. In 1977, Birt et al.4 ®rst presented a kindredin which 15 of 25 adult members had multiple

dominantly inherited ®brofolliculomas associated with

trichodiscomas and acrochordons. Thereafter, mostmultiple ®brofolliculomas reported have been associated

in various combinations with trichodiscomas, peri-

follicular ®bromas and acrochordons, the so-called

Birt±Hogg±Dube syndrome.2±4 In addition, Weintrauband Pinkus5 reported a patient with multiple ®bro-

folliculomas occurring within and around a large con-

nective tissue naevus. Besides these mixed types oftumours, pure forms of multiple ®brofolliculoma not

associated with other skin lesions have occasionally

been described.1,6 Although serial sections of multiplebiopsy specimens were examined in our patient, there

were no ®ndings to suggest trichodiscoma or perifolli-

cular ®bromas. Thus, our patient had the pure form ofmultiple ®brofolliculoma.

Solitary ®brofolliculoma is rarer, non-hereditary, and

not associated with other abnormalities.7 In contrast,multiple ®brofolliculomas are usually associated with

other tumours of the perifollicular connective tissue in a

dominantly inherited fashion.1 Although it manifestedas multiple lesions, our case was sporadic and non-

hereditary, and a spontaneous mutation is therefore

likely because this patient had no family history ofsimilar lesions. The age of onset of multiple ®brofollicu-

lomas is usually in the third decade.4,5 However, the

tumours as well as a depigmented patch on the buttockin our patient had already been recognized at birth by

her parents. Thus, our patient had the congenital form,

as opposed to the multiple hereditary form with onset inthe third decade.

In general, no other associated abnormalities havebeen reported in patients with ®brofolliculomas, solitary

or multiple, apart from colonic polyposis in one patient

with the Birt±Hogg±Dube syndrome.8 The associationof ®brofolliculomas with other congenital anomalies has

not been previously documented. Our patient also had

other congenital anomalies, i.e. deformity of the auricleof the ear and ventricular septal defect. Based on a study

of the embryological anatomy of the external ear, it has

been suggested that deformity of the auricle of the earcan be the result of abnormal traction of the antitragus

muscle.9 Thus, three conditions in our patient, i.e.

®brofolliculomas, deformity of the ear and ventricularseptal defect, embryologically share an apparent

mesenchymal abnormality. Given the low frequency of

these conditions, a genetic link seems more likely than acoincidental one, although the pathogenetic mechan-

ism by which these congenital abnormalities are

associated is unknown.Clinically, ®brofolliculomas are described as being

indistinguishable from trichodiscomas and perifollicular

®bromas.6 These lesions consist of multiple, yellowish-white, smooth, dome-shaped, 2±4 mm papules, which

are scattered over the head, neck and upper trunk. The

clinical features of each individual lesion in our patient

CONGENITAL FIBROFOLLICULOMAS, EAR DEFORMITY AND VSD 333

q 1999 British Association of Dermatologists, British Journal of Dermatology, 141, 332±334

Figure 1. (a) Multiple, grouped, skin-coloured papules with an annular

con®guration are present on the right mid-back area. (b) Deformity of

the auricle of the right ear is seen.

resembled those of ®brofolliculomas, but the distribu-tion and con®guration of the lesions were unusual.

While ®brofolliculomas are clinically indistinguishable

from trichodiscomas and perifollicular ®bromas, thesetumours have distinctive histopathological features.

Unlike ®brofolliculomas, trichodiscomas are character-

ized by a proliferation of the neural, ®brous and vascularelements of the hair disc.10 In perifollicular ®bromas,

there are apparently no epithelial alterations, but

concentric ®brosis surrounds the hair follicle.11 Thehistopathological ®ndings in our patient were typical

for ®brofolliculomas.

In summary, our patient had a rare pure form ofmultiple ®brofolliculoma with some unique clinical

features. First, the occurrence was sporadic and non-

hereditary. Secondly, the tumours developed congeni-tally in association with other congenital anomalies, i.e.

deformity of the auricle of the ear and ventricular septal

defect. Thirdly, the lesions were localized to the rightmid-back, an unusual site. Finally, the lesions had a

characteristic annular con®guration as a whole andsome of them had a linear arrangement. The congenital

occurrence and localized annular distribution may

suggest a naevoid origin for these tumours, but addi-tional observations will be necessary to con®rm this.

References

1 Starink TM, Brownstein MH. Fibrofolliculomas: solitary and multi-

ple types. J Am Acad Dermatol 1987; 17: 493±6.

2 Fujita WH, Barr RJ, Headley JL. Multiple ®brofolliculomas withtrichodiscomas and acrochordons. Arch Dermatol 1981; 117:

32±5.

3 Moreno A, Puig L, de Moragas JM. Multiple ®brofolliculomas and

trichodiscomas. Dermatologica 1985; 171: 338±42.4 Birt AR, Hogg GR, Dube WJ. Hereditary multiple ®brofolliculomas

with trichodiscomas and acrochordons. Arch Dermatol 1977; 113:

1674±7.

5 Weintraub R, Pinkus H. Multiple ®brofolliculomas (Birt-Hogg-DubeÂ) associated with a large connective tissue nevus. J Cutan

Pathol 1977; 4: 289±99.

6 Foucar K, Rosen T, Foucar E, Cochran RJ. Fibrofolliculoma: aclinicopathologic study. Cutis 1981; 28: 429±32.

7 Scully K, Bargman H, Assaad D. Solitary ®brofolliculoma. J Am

Acad Dermatol 1984; 11: 361±3.

8 Rongioletti F, Hazini R, Gianotti G, Rebora A. Fibrofolliculomas,trichodiscomas and acrochordons (Birt-Hogg-DubeÂ) associated

with intestinal polyposis. Clin Exp Dermatol 1989; 14: 72±4.

9 Davis JE, Grgcevic G. Sixth-month morphoauricular syndrome.

Aesthetic Plast Surg 1997; 21: 424±6.10 Pinkus H, Coskey R, Burgess GH. Trichodiscoma: a benign tumor

related to Haarscheibe (hair disk). J Invest Dermatol 1974; 63:

212±8.11 Zackheim HS, Pinkus H. Perifollicular ®bromas. Arch Dermatol

1960; 82: 913±17.

334 Y.M.PARK et al.

q 1999 British Association of Dermatologists, British Journal of Dermatology, 141, 332±334

Figure 2. (a) Histology of a biopsy from one

papule reveals stromal proliferation and

anastomosing epithelial strands at the level

of the sebaceous gland and duct[haematoxylin and eosin (H&E); original

magni®cation ´ 200]. (b) Histology of

another papule shows the stroma

consisting of loose, mucin-rich, ®nely®brillar connective tissue with increased

numbers of ®broblasts and blood vessels

(H&E; original magni®cation ´ 200).