Maddalena Siragusa

An updated survey on skin conditions in down syndrome

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.

Perforating milia-like idiopathic calcinosis cutis and periorbital syringomas in a girl with Down syndrome

Abstract: 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.

Skin pathology findings in a cohort of 1500 adult and elderly subjects

Background No extensive studies are available in the literature on the eventual skin pathology induced by neurologic or systemic diseases in elderly individuals. Other factors, such as health and hygiene, socioeconomic status, and climate can also play an important role.

Eruptive Syringomas with Calcium Deposits in a Young Woman with Down’s 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.

Palpebral syringomas and Down's syndrome.

BACKGROUND Palpebral syringomas have been reported to be more frequent in patients with Downs syndrome than in the normal population. OBJECTIVE The aim of the present study was to evaluate, in a population of institutionalized patients with Downs syndrome, the prevalence of syringomas and their possible cytogenetic relationships. METHODS Sixty-one institutionalized patients with Downs syndrome were examined in order to assess the presence of palpebral syringomas. Sixty mentally retarded non-Downs syndrome individuals were used to control group. RESULTS Fourteen patients, 13 females and 1 male, were found to be affected. The prevalence of syringomas in both sexes was 23%; 42% of all females, and 55% when only adult females were considered, had syringomas. Thirteen of the 14 affected patients had a karyotype of Downs syndrome with free trisomy 21, 1 had a mosaicism 47,XX, +21/46,XX. Histologic examination confirmed the diagnosis in all 4 biopsied cases. A clear-cell pattern was observed only in 1 patient while, sporadically, few tubules showed a central syringial-type cuticula. CONCLUSION The higher prevalence found in females, as compared to males, can be partially explained by their older age (mean 23.8 vs. 13.9 years). Palpebral syringomas are a common cutaneous pathology in adult females with Downs syndrome.

ACE-Inhibitor-Induced Drug Eruption Resembling Lymphocytic Infiltration (of Jessner-Kanof) and Lupus erythematosus tumidus

A 40-year-old man under treatment for hypertension for almost 1 year with an angiotensin-converting enzyme (ACE) inhibitor (enalapril) presented with recurrent chronic dermatitis of the face and trunk for several months. Physical examination revealed 2 nonpruriginous, erythematous, arciform plaques located in the thoracomammary region (fig. 1). A less infiltrated oval plaque was located in the left preauricular region. The lesions resolved after interruption of enalapril and application of topical steroids. A relapse was observed in the same region after reintroduction of the drug. Discontinuation of the treatment with enalapril was followed again by resolution of the lesions. The subsequent administration of valsartan, an angiotensin II receptor antagonist similar to enalapril, caused the appearance of similar lesions within few weeks. We performed a 5-mm punch biopsy from one of the chest lesions. Histology showed micronodular inflammatory infiltrates scattered in the dermis around the small vessels and the adnexal structures, with a pattern typical of the so-called lymphocytic infiltration of Jessner-Kanof (fig. 2). The cells were T lymphocytes, mainly CD8 positive, and histiocytes scattered and in small clusters, with sporadic fragmentation of the collagen fibers. The direct immunofluorescence and the iron staining for mucin were negative. The ACE inhibitor therapy was discontinued, and the hypertension was treated with an ·-blocker medication. Complete resolution of the dermatitis was observed within a couple of weeks, and at 6 months of follow-up no signs of relapse were observed. A 48and 72-hour patch test reading with enalapril did not show any positive reaction. This clinical case is an example of druginduced cutaneous reaction (specifically by ACE inhibitors) with a histological pattern resembling lymphocytic infiltration of JessnerKanof. There are several reports in the literature regarding skin disorders following treatment with ACE inhibitor drugs, especially enalapril. In the cases reported, the clinical diagnoses were granuloma annu-

Chronic heat-induced skin lesions (erythema ab Igne): ultrastructural studies.

Erythema ab igne (EI) is an uncommon skin lesion caused by mild and repeated exposure to infrared sources. The aim of this study was to investigate the ultrastructural alterations in this condition. The ultrastructural study was carried out on 5-outpatients who presented typical EI of their exposed sites. Skin punch biopsies were processed for standard electron microscopy. The epidermis was hyperpigmented, with focal regressive changes of basal keratinocytes. An apparent functional activation of melanocytes with numerical increase of dendritic processes was also observed. The dermis showed abundant melanophages and occasional elastic fiber alterations similar to actinic elastosis. No alterations consistent with preneoplastic skin conditions were observed. The ultrastructural findings associated with EI seem to be nonspecific and consistent with moderate regressive changes of keratinocytes as well as a consensual melanocytic activation and elastic fiber modifications. Similar alterations can be observed in chronic actinic skin damage. This condition is presumably more benign than the ultraviolet exposure.The association of EI and premalignant skin lesions, though occasionally described, seems relatively infrequent.

Milia-like idiopathic calcinosis cutis: An unusual dermatosis associated with Down syndrome

Summary 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.

LOCALIZED ELASTOSIS PERFORANS SERPIGINOSA IN A BOY WITH DOWN SYNDROME

To the Editors: Elastosis perforans serpiginosa (EPS) is a rare primary type of transepidermal elimination (TE), a peculiar phenomenon characterized by the expulsion, through narrow epidermal channels, of autologous or heterologous spoiled material from the papillary dermis to the cutaneous surface (1,2). Elastic fibers, morphologically and biochemically spoiled, are extruded through an usually archor serpigo-shaped hyperkeratotic papule. EPS can be a.symptomatic or slightly itchy and usually affects ihe sides ofthe neck, nucha, and face in a symmetrical way. It occurs during the first two decades of life, in both sexes, with boys more frequently affected than girls. Its course is chronic and usually results in linear or reticular scars that appear hypotrophic, hypopigmented, with a pathognomonic peripheral papule, and surrounded by active foci. TTirce forms of EPS are known: the idiopathic type that is not correlated with systemic diseases; the secondary type that is caused by intake of penicillamine, and the reactive type that is associated with genodermatoses and involves the connective tissue. The reactive form accounts for one-fourth of all ca.ses of EPS (1-3). To date, few reports of diffuse or generalized EPS in persons with Down syndrome (DS) have been published (3-6). In this paper we report on a DS affected boy who had a localized form of EPS with a short course and positive clinical outcome. A 16-year-old boy, affected by DS (karyotype 47,XY,-r2I) with profound mental retardation, had some papules over the left mandibular angle. They were approximately 2 mm in diameter, round, pink-colored, hyperkeratotic, and clustered in a ring-shaped plaque with a diameter of approximately 2 cm (Fig. 1). The removal of the keratotic and adherent mass caused the occurrence of a small bleeding crater. The parents reported that the u .,

SKIN-PICKING: THE BEST CUTANEOUS FEATURE IN THE RECOGNIZATION OF PRADER-WILLI SYNDROME

We report on a 13.3-year-old girl with Prader-Willi syndrome (pws) and skin-picking. She came to us with an unremarkable family history, a delay in psychomotor development, and anticonvulsant treatment on the basis of a diagnosis of West syndrome, made at the age of 8 months. She is now an obese girl weighing 106.8 kg (> 97th centile) measuring 151 cm (10th-25th centile) (Fig. 1). The occipitofrontal head circumfer-