Carmelo Schepis

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.

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-

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.

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-

An additional case of macular phylloid mosaicism.

A 6-year-old mentally retarded girl presented with congenital maculae distributed on the trunk and legs. These pigmentary disturbances were not arranged according to Blaschko’s pattern of distribution. On the trunk they appeared in a typical leaf-like pattern. Some were hypopigmented, others were slightly hyperpigmented (fig. 1). On the right leg, the lesions were linear and hypopigmented. The patient also showed microbrachycephaly, upslanting palpebral fissures, a broad nasal root with bulbous nasal tip, right microtia, short neck and mild syndactyly of the 2nd and 3rd toes. The karyotype of blood (70 out of 100 metaphases) and fibroblasts (25 out of 100 metaphases) taken from the skin area of the right wrist showed trisomy 13. Happle described four patterns of mosaicism in human skin [1, 2]: type 1 follows the lines of Blaschko on narrow (1a) or broad (1b) bands; type 2, named ‘checkerboard’ pattern, consists of alternate squares of hyperpigmentation with a midline separation; type 3 or ‘phylloid’ pattern presents with hypoor hyperchromic maculae which look like a floral ornament; type 4 consists of a large patchy pattern without separation on the midline. Our patient was affected by macular phylloid mosaicism. Happle referred about 4 cases with such an arrangement [2]. Probably the first was described in 1956 [3]. Recently an additional case, the fifth, was reported in association with chromosomal mosaicism 46,XX/47,XX + 13 [4]. To our knowledge, this is the sixth reported case. Four out of 6 presented with chromosomal mosaicism [2, 4]. On the contrary, chromosomal aberrations are not frequently associated in more frequent macular conditions which follow Blaschko’s arrangement on type 1a [5]: hypomelanosis of Ito [6, 7] and linear and whorled nevoid hypermelanosis [8]. We believe that it is difficult to distinguish among these peculiar patterns; thus, we cannot rule out that other phylloid arrangements were in the past described as hypomelanosis of Ito or under other terms [9]. In fact, some of them have been described in nondermatological journals, often without a morphologically detailed description and moreover without figures. We suggest a multidisciplinary approach to this condition. Fig. 1. Leaf-shaped hyperpigmentation is highlighted by arrows on the left side. Surrounding areas of hypopigmentation can also be noted.

Primary cutis verticis gyrata or pachydermia verticis gyrata: a peculiar scalp disorder of mentally retarded adult males.

BACKGROUND Primary or idiopathic cutis verticis gyrata (CVG) is often associated with mental retardation or chronic schizophrenia. OBJECTIVE The aim of the present study was to evaluate the prevalence of primary CVG and its histological aspects in a psychiatric adult population. METHODS Eighty-three hospitalized psychiatric adult patients were examined for the primary form of CVG. Forty-nine (44 males and 5 females) out of them were schizophrenic, 16 (14 males and 2 females) were mentally retarded and the remaining 18 were affected by different psychiatric disorders. RESULTS Three males, 2 mentally retarded and 1 schizophrenic, were found to be affected and the clinical diagnosis was confirmed histologically. CONCLUSION The high prevalence of primary CVG in males with mental retardation might be explained by ethnic factors or by the use of an adequate diagnostic methodology, improved by shaving the scalp hair in patients suspected to be affected. The term pachydermia verticis gyrata is suggested for the primary CVG, which is the most common scalp disorder in such a population.

Nail pathology in patients with hemiplegia

Background  It is well known that nails can be involved in some diseases of the central nervous system; however, no systematic study has been carried out in order to evaluate the incidence and the possible mechanisms of these nail changes in hemiplegia.