Background: Only three not concordant surveys have been published on skin conditions associated with Down syndrome. Objective: A sample ranging from infancy to adulthood, using acknowledged criteria for diagnosis, may highlight the skin involvement in Down syndrome. Methods: We report the skin conditions observed in 203 people with Down syndrome, separated according to five different age ranges. We have set up two main groups of skin features: the phenotype and the dermatological diseases. Results: The single palmar crease and xerosis are strongly represented within the phenotype. Among the dermatological diseases, folliculitis and syringomas have been observed mainly in adolescence and adulthood. Atopic dermatitis has been recognized in 10 subjects. Alopecia areata and milia-like idiopathic calcinosis cutis appeared in 6 subjects. Conclusion: People with Down syndrome suffer from peculiar dermatoses (syringomas, milia-like calcinosis, elastosis perforans serpiginosa). Other conditions (folliculitis, alopecia areata) are frequently observed.

We describe two boys affected by Down syndrome (DS), who showed milia-like idiopathic calcinosis cutis (MICC). The clinical diagnosis was confirmed by histological examination. All reported cases are reviewed and compared. Syringeal structures play a significant part in the pathogenesis of this dermatosis. MICC appears to be a poorly recognized condition which, rarely, is associated with DS.

An 11-year-old girl with Down syndrome had whitish, milia-like lesions on the acral areas of the limbs, and periorbital syringomas. Calcium deposits were the histologic counterparts of the milia-like lesions. This is the first European report of this feature in Down syndrome.

Eruptive syringomas are uncommon in the general population. We describe here an 18-year-old female, affected by Down’s syndrome, who presented with an abrupt eruption of small skin-colored or reddish papules on the face, neck and limbs. Light microscopy allowed us to diagnose syringomas, whereas the study of the ultrastructural features revealed calcium deposits in many lumina and also in the mitochondria. This observation confirms the hypothesis that the syringeal structure plays a role in the pathogenesis of calcinosis cutis.