ARTICLE
Familial nevoid sebaceous gland hyperplasia has rarely been described
in the literature [1-5]. It mainly affects males with sudden onset at
puberty and a slow but continuous progression over the years. It presents
with soft, confluent, yellow papules predominantly involving the forehead,
the cheeks and the chin. The neck, column and parts of the upper thorax
may also be affected. Characteristically, the periorbital, perinasal,
preauricular and perioral regions are spared. In most cases, it is accompanied
by severe seborrhea of the skin. Typically, acneiform lesions are missing.
Patients mostly have normal serum androgen levels. Dermatohistopathology
typically shows sebaceous gland hyperplasia only with microcomedo formation
without P. acnes colonization and without any signs of inflammation [3].
Differential diagnosis reveals premature sebaceous gland hyperplasia [6,
7], naevus sebaceus, adenoma sebaceum and epithelioma adenoides cysticum
(Brooke). The pedigree of all reported cases, including ours, suggests
autosomal dominant inheritance with incomplete penetrance.
Case report
Case 1
A 54-year-old man developed seborrhea and multiple yellow papules on
the face and on the upper chest around puberty. He remembered that his
mother and sister had similar skin lesions. On first admission the face
was characterized by severe seborrhea and multiple yellowish papules predominantly
involving the forehead, the cheeks and the chin (Fig.
1A). He was treated with isotretinoin 0.5 mg/kg body weight per
day over 6 weeks, then reducing to 0.2 mg/kg body weight/d. Seborrhea
and the skin texture improved markedly (Fig.
1B). Isotretinoin was then reduced to a dose of 10 mg twice daily.
Further lowering of the dose led to a relapse. He has now been taking
isotretinoin continuously 2 x 10 mg/d without any side-effects for 2 years.
Case 2
The 25-year-old son of patient 1 developed skin symptoms at the age
of 16 years (Fig. 2).
Various topical acne therapies had not led to any improvement in his condition.
He showed severe seborrhea and multiple, aggregated papules on the face
and the upper thorax and, to a very mild degree, on the upper back. With
isotretinoin 0.5 mg/kg/d for 3 weeks the skin greatly improved. Isotretinoin
was then reduced to 3 x 20 weekly for another 3 weeks. The patient is
now on isotretinoin 2 x 20 mg per week without any relapse or side-effect.
Case 3
The 44-year-old niece of patient 1 and cousin of patient 2 (Fig.
2) had been suffering from her early puberty from severe seborrhea
and skin lesions which appeared as rather aggregated yellow-brownish papules
predominantly involving the forehead and the cheeks (Fig.
3A). She was also put on isotretinoin 0.5 mg/kg/d for 3 weeks
which was then reduced to 0.3 mg/kg/d for another 3 weeks. At the same
time she started antiandrogenic contraception with cyproteronacetate plus
ethinylestradiol (Diane 35®). She is now on isotretinoin
2 x 10 mg per day with a great benefit (Fig. 3B).
Case 4
The 25-year-old daughter of patient 3 (Fig.
2) had been treated topically for acne for a long time before
she presented to our department. She had mild seborrhea but also multiple
papules on the face and the thorax. She was treated with isotretinoin
0.5 mg/kg/d for 4 weeks and subsequently 2 x 10 mg daily with led to a
great improvement. Because of planned pregnancy she interrupted isotretinoin
for 20 months. As she noticed an increase of seborrhea and skin lesions
after delivery of a healthy baby she started to take isotretinoin 3 x
10 mg/d again and subsequently 2 x 10 mg/d which immediately reduced the
seborrhea and improved the skin texture.
Discussion
Dupre et al. were the first to describe two brothers who were
affected by familial sebaceous hyperplasia of the face in 1980 [1]. In
1983, Graham-Brown et al. reported on a papular plaque-like eruption
of the face due to nevoid gland hyperplasia in a female without hyperseborrhea.
We described the third family including a mother and her daughter affected
by nevoid sebaceous gland hyperplasia [3]. The most recent reports were
from Thailand with affected patients over 5 generations [4] and from Spain
with 3 patients over 2 generations [5]. Our family represents important
further evidence of this rare disease as it affects 3 generations including
4 (5?) patients which is the largest family but one (4). According to
reports from the family, the mother of patient 3 is also most likely affected
but due to severe medical problems she was not able to present to our
department. The case of De Villez et al. differs from the other
reports as this patient showed a nevoid premature sebaceous gland hyperplasia
with papulo-nodular lesions also involving the perioral region as well
as inflammatory acneiform lesions [6]. The case reported by Burton et
al. does not contribute to familial sebaceous gland hyperplasia as
they describe a patient with premature sebaceous gland hyperplasia who
was on immunosuppressive medication due to a kidney transplant [7]. In
those reports also describing the treatment, all patients were successfully
treated with oral isotretinoin [3-5, 7] which is the therapy of choice.
According to our experience, isotretinoin should initially be given at
a dose of >= 0.5 mg/kg body weight per day for a minimum of 3 weeks.
In females, antiandrogen contraception such as cyproteroneacetate or chlormadinonacetate
should be started accompanied by isotretinoin application at intervals
such as 3 times per week. As antiandrogen therapy is not possible in men,
the continuous isotretinoin application has to be prolonged in a daily
modus and can then be tapered down to a maintenance interval regimen.
Further investigation is needed to decide whether dermabrasion and chemical
peelings may be of additional benefit. From our experience of the two
women reported by us in 1987, antiandrogen therapy with cyproteronacetate
2 mg plus ethinylestradiol 0.035 mg was not sufficient to reduce the sebaceous
hyperplasia of > 50%, which was only possible with isotretinoin. It
should be emphasized that further investigation has to be done on the
androgen receptor density and activity in the sebocytes and on the follicular
keratinocytes as well, in this type of sebaceous gland disease.
We want to emphasize that familial nevoid sebaceous gland hyperplasia
is still often misdiagnosed as seborrhea with widened follicular openings
or acne and that an appropriate family history and examination of family
members is necessary if this unusual diagnosis is suspected.
REFERENCES
1. Dupre A, Bonafé JL, Lamon R. Functional familial sebaceous
hyperplasia of the face. Clin Exp Dermatol 1980; 5: 203-7.
2. Graham-Brown RAC, McGibbon DH, Sarkany I. A papular plaque-like eruption
of the face due to naevoid sebaceous gland hyperplasia. Clin Exp Dermatol
1983; 8: 379-82.
3. Gollnick H, Orfanos CE. Familial nevoid sebaceous hyperplasia with
hyperandrogenism. Clinical Dermatology, The CMD Case Collection. World
Congress of Dermatology, Berlin, May 24-29 1987, Schattauer Verlag, 350-2.
4. Boonchai W, Leenutaphong V. Familial presenile sebaceous gland hyperplasia.
J Am Acad Dermatol 1997; 36: 120-2.
5. Grimalt R, Ferrando J, Mascaro JM. Premature familial sebaceous hyperplasia:
successful response to oral isotretinoin in three patients. J Am Acad
Dermatol 1997; 37: 996-8.
6. De Villez RL, Roberts LC. Premature sebaceous gland hyperplasia.
J Am Acad Dermatol 1982; 6: 933-5.
7. Burton CS, Sawchuk WS. Premature sebaceous gland hyperplasia: successful
treatment with isotretinoin. J Am Acad Dermatol 1985; 12: 182-4.
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