Milia-like idiopathic calcinosis cutis

ARTICLE

An 11 year-old boy affected by Down's syndrome (DS), confirmed by karyotype, was referred to us because he presented with a lot of whitish hard "pustules", ranged in size from 2 to 3 mm in diameter, distributed on his palms and fingers (Fig. 1). The parents indicated that some elements, spontaneously eliminated through the skin, had a chalk appearance. The condition had been present for about a year.

Laboratory findings were unremarkable with normal serum levels of calcium and phosphate.

Histological examination of a biopsied lesion revealed hyperortokeratosis in the epidermis and, in the upper dermis, a round calcific nodule surrounded by a thin fibrovascular strip (Fig. 2).

What is your diagnosis? Which other perforating condition has been associated with DS?

Milia-like idiopathic calcinosis cutis

Milia-like idiopathic calcinosis cutis (MICC) is a micronodular, whitish, acral, calcified lesion. Laboratory tests, including serum calcium and phosphate, urinary calcium and parathyroid hormone are within normal range [1]. The term MICC was introduced in the literature by Smith et al. [2] in 1989 who described a 6-year-old child affected by DS with whitish milia-like lesions on the dorsal surface of his hands and also on his knees and elbows. Actually, similar lesions were described in 1981 by Eng and Mandrea [3] in two children unaffected by DS. Since Smith's description [2] some additional cases of MICC have been reported in children or adolescents affected by DS [4-10]. To date eleven cases of MICC in DS have been described in the literature if we consider the first one by Sano et al. and the one by Shibuya et al., both reported in Japanese Journals [11-12]. We already described an 11-year old girl in 1994 [6] and two males aged 10 and 11 years in 1996 [8]. This additional observation, plus two other cases not reported because they presented with few lesions, in a series of 180 DS patients examined since 1993, allows us to consider MICC as not too rare in DS. All cases referred involve children or young adolescents except for Sano's description [11].

The pathogenesis of MICC is unknown. Ceder's assumption that high calcium levels in the fibroblasts of Down subjects may explain the calcinosis [13] does not clarify the occurrence of MICC in pediatric age only. MICC is often perforating [2, 4, 5, 8-10] and in our practical experience we have observed that this dermatosis fades with adolescence. We have demonstrated how some calcium may be expelled through the epidermis but mostly is cleaved in the upper dermis by perforation [8]. It seems reasonable to consider the syringeal structure the first site of calcification. The association with palpebral syringomas, reported in some cases, appears coincidental because of the high frequence of palpebral syringomas in Down population [14].

To date only three cases of MICC have been described in literature unassociated with DS [3, 15]. For this reason we put forward the assumption that MICC is a peculiar dermatosis in young Down persons. Elastosis perforans serpiginosa is another rare condition often associated with DS [16]. In such a dermatosis some spoilt elastic fibers are expelled from the papillary dermis to the skin surface through arc-shaped hyperkeratotic papules [17].

Article accepted on 24/7/00

References

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