congenital annular multiple fibrofolliculomas occurring with deformity of the ear and ventricular...
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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-
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2 Fujita WH, Barr RJ, Headley JL. Multiple ®brofolliculomas withtrichodiscomas and acrochordons. Arch Dermatol 1981; 117:
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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).