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Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythroderma, and disabling features affecting the skin (palmoplantar keratoderma, fissures, pain, itch), eyes, ears, and joints. Disease severity and chronicity, patient disfigurement, and time and costs required for care impose a major burden on quality of life. This multicentre cross-sectional study investigated the impact of ARCI on quality of life of patients and families, using the Dermatology Life Quality Index (DLQI), the Children DLQI (CDLQI) and Family Burden of Ichthyosis (FBI) questionnaires. Disease severity was assessed by a dermatologist. A total of 94 patients were recruited, of whom 52 (55.3%) children. Mean age was 20.1 (median 13.5) years. The mean CDLQI/DLQI score was 7.8, and 21 patients scored >10, indicating a major impairment in quality of life: symptoms, feelings and treatment problems were the most affected domains of quality of life. FBI showed a major repercussion on psychological factors and work. The results of this study highlight the impact of ARCI on specific aspects of patient and family life, underlining the need for psychological support.

Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene encompassing three main clinical findings: 1) ichthyosiform dermatitis and/or ichthyosis linearis circumflexa, 2) hair shaft defects with peculiar "trichorrhexis invaginata" (bamboo pole hair) findings, 3) atopic dermatitis. We describe two siblings affected by Netherton/Comel syndrome who were referred to our Center for Genodermatosis. A diagnostic pathway and the description of a new SPINK5 variant has been determined for these two patients. A novel genetic mutation has been found.

Objective: To evaluate the type and frequency of self-mutilation lesions of the mouth and lips in a large group of institutionalized mentally retarded subjects. Subjects and methods: Two hundred and forty-five institutionalized mentally retarded patients were evaluated clinically by a systematic inspection of the perioral cutis, lips, tongue, oral mucosa, palate, gingivae and teeth. Moreover, the drug therapy taken by each patient was carefully reviewed. Results: Numerous lesions were found involving the tongue, lips, oral mucosa, perioral skin, gingivae and teeth, prevalently supported by a self-mutilation mechanism (such as cheek and tongue biting and nodular traumatic lesions), which were differentially expressed in patients with different degrees of mental retardation. A possible effect of anti-epileptic or neuroleptic drugs was also detected. Conclusions: These findings indicate that inspection of the oral cavity should always and carefully be performed in all patients with mental retardation and in those with neuroleptic and anti-epileptic drug therapy, in order to avoid or even extinguish self-mutilation of the oral cavity by means of an accurate hydration of the mucosa which might counterbalance some iatrogenic undesired effects.

We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two cafe au lait spots, and one neurofibroma. The diagnosis of LEOPARD syndrome has been made on clinical grounds, whereas the ichthyosis and neurofibroma have been histologically confirmed. The analogies between LEOPARD syndrome and neurofibromatosis have been discussed. Finally, we maintain this case is an example of the multiple lentigines syndrome/LEOPARD syndrome spectrum.

We report a patient affected by restless legs syndrome as the presenting symptom of multiple myeloma, a hematologic malignancy characterized by clonal proliferation of plasma cells in the bone marrow and monoclonal immunoglobulin in the blood and/or urine.

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. Objectives To study the presence of nail pathology specifically associated with hemiplegia and to evaluate its incidence and its temporal relationship with the onset of the neurological deficit. Methods In an open study, fingernails and toenails were examined by a dermatologist; 108 were patients with hemiplegia due to a stroke, consecutively admitted to our Department of Neurology between 1995 and 1998, and 121 were normal controls. Results Onychodystrophy of fingernails and onychomycosis of toenails were found in both patients with hemiplegia and normal controls. However, three conditions (longitudinal reddish striation, neapolitan nails and unilateral clubbing) were only observed in some patients, always affecting fingernails of the limb affected by hemiplegia. Neapolitan nails were present in three (3%) patients with hemiplegia which had its onset 3-14 months earlier, Hemiplegia had occurred approximately 40 months earlier, on average, in six patients (6%) with longitudinal reddish striation, and 60-120 months prior to unilateral clubbing in another two patients (2%). Conclusions In this study we were able to assess the presence of three different fingernail conditions that were characteristically associated with hemiplegia (longitudinal reddish striation, neapolitan nails and unilateral clubbing), to evaluate their incidence and to study the delay with which these changes occur after a stroke.

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.

A 6-year-old girl was referred for clinical evaluation. Her phenotype was characterized by an asymmetric face, dysmorphic skull with frontal-parietal hyperostosis, hypertelorism, strabismus, long neck, and low-set antiverted ears (Fig. 1). Her thorax was also dysmorphic with dropped shoulders because of the abnormal orientation of the scapulae and scoliosis. Moreover, the following features were evident: multiple abdominal lipomatous formations, muscle hypotonia and hypotrophia, lower limb heterometria, severe limitation of spinal articulation movements, congenital papular-nodular nevus over the posterior axillary line, macrodactyly of the third and fourth right fingers, left hand smaller than the right, and thickening of the cutaneous tissues of the plantar surface of the foot with a gyrate and cerebriform aspect (Fig. 2). In addition, simple hypermetropic astigmatism of both eyes, exotropia and hypertrophy of the left eye, and dental caries were found. All routine blood examinations were within normal limits; electromyography disclosed a primary muscle disease. Thyroid ultrasound showed a dyshomogeneous structure with normal dimensions. Abdominal ultrasound showed a normal liver, gall bladder, and spleen; however, the pyelic cavities of the kidney were enlarged. Finally, molecular genetic analysis of the PTEN gene was negative. The clinical and instrumental features and the presence of significant cerebriform plantar hyperplasia allowed us to propose a diagnosis of Proteus syndrome.

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.

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.

Prurito pigmentosa is an inflammatory disease mainly reported by Japanese dermatologists. We report a case of Prurigo pigmentosa observed in a Sicilian young patient affected by intellectual disability. In the past, we had already observed and reported some cases of Prurigo pigmentosa in patients living in Sicily. The differential diagnosis, the treatment of the disease, the role of chronic intake of psychodrugs and the possible relation to G6PD deficiency of this patient are pointed out.

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.

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 an 8-year-old boy with Rubinstein-Taybi syndrome, a multiple congenital anomaly/mental retardation syndrome characterized by broad thumbs and great toes, peculiar facies, and mental retardation caused by mutations in the transcriptional coactivator CREB binding protein (CBP). He had on his right side yellowish papular lesions organized in narrow bands according to Blaschko lines, later confirmed by histology as an epidermal nevus. Epidermal nevus syndrome has been ruled out because the patient failed to meet the criteria for inclusion under this designation. This association may be coincidental.

Macular or friction amyloidosis is a cutaneous entity characterized by a brownish pigmentation distributed on the skin over bony regions of the trunk and limbs after the use, for many years, of a nylon towel or scrub brush to clean the skin. Electron microscopy is necessary for the diagnosis of this dermatosis and reveals deposits of amyloid in the papillary dermis. This condition is relatively unknown in Western countries. In this report, we describe 24 Italian patients affected by friction amyloidosis which was caused by the use of cotton towels, horse-hair gloves or artificial and rough sponges to clean their skin.

Seven cases of primary macular amyloidosis were studied on skin biopsies. The Congo red stain was positive only in three cases, whereas the ultrastructural observation allowed for the detection of amyloid deposits in all biopsies. Fibrillary degeneration of basal keratynocytes was occasionally observed, and regressive changes of keratynocytes and dermal nerve bundles presumably related to the intensity of the scratch trauma were detected in one case. In six biopsies mast cell profiles exhibiting various degrees of degranulation were detected in the dermis. Melanosome aggregates were also observed consistently in dermal macrophages and occasionally in Schwann cells. A variable degree of structural alteration was observed in dermal unmyelinated nerve fibers. Even if the intimate mechanism of amyloid deposition was not explained by the ultrastructural study, this approach is a useful instrument in the differential diagnosis of cutaneous macular hyperpigmented lesions.

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. Methods Fifteen-hundred subjects (886 women and 614 men; mean age, 67.8 years; range, 39–90 years) were admitted to the Department of Geriatrics at the Oasi Institute between 1992 and 1997; all these subjects were carefully evaluated from a dermatologic point of view. Each subject underwent specialist examinations, routine blood analyses, thoracic X-rays, cerebral computerized tomography (CT) scan, and magnetic resonance imaging (MRI) when appropriate. A group of subjects without significant neurologic or systemic disease, comprising 116 women and 60 men (mean age, 64.5 years; range, range, 40–90 years), was selected and used as a normal control group. Subsequently, our attention was focused on the eventual presence of the following neurologic diseases: Alzheimer-type dementia, vascular dementia, mixed-type dementia, subcortical dementia, Parkinson’s disease, vascular brain disease, hemiplegia, etc. Thus, different subgroups were formed on the basis of such diagnostic categories and the frequency of skin pathology in each subgroup was evaluated. Results Of the 1500 subjects, 1439 stated that they had never been affected by dermatologic disease. No statistically significant difference in frequency of skin pathology was found between normal controls and the different patient subgroups. Unsuspected and singular dermatoses were found, however, such as paraneoplastic syndromes, idiopathic tripe palms, white fibrous papulosis of the neck as an expression of photoaging, conditions induced by former popular traditions of Sicilian culture (anetoderma secondary to the application of Hirudo medicinalis and erythema ab igne), pigmented dermatoses never described before in Italy (prurigo pigmentosa and friction amyloidosis), and nail abnormalities (atypical half-and-half nail, and dyschromic nail changes in multiple system atrophy and in hemiplegia). Conclusions The dermatologic screening performed in 1500 patients revealed several unexpected diagnoses and some original observations. Some rare dermatoses were described and certain hypotheses were suggested to explain the peculiar dyschromic changes of the fingernails in multiple system atrophy, the atypical cases of half-and-half nail, and the so-called idiopathic tripe palms associated with psoriasis.

Three patients, two females and one male, presented with white fibrous papulosis of the neck. This condition is characteristically located on both sides of the neck ; however, it also appears on the upper sternal region, with a necklace-like configuration, in the two female patients, aged 72 and 78 years, respectively. A differential diagnosis was carried out with respect to other dermatoses that show a similar skin aspect, and to the pseudoxanthoma elasticum-like papillary dermal elastolysis. This is because this condition, as well as fibrous papulosis, can be interpreted as a clinical-histological variant of the same process of cutaneous ageing. However, environmental factors can play a role in the aetiopathogenesis of fibrous papulosis in the Sicilian population.

Matting of the hair is a rare condition characterized by an irreversible tangling of scalp hair. This phenomenon has an uncertain etiopathogenesis, and it is assumed that physical, chemical and electrostatic factors may lead to its onset. In our case, vigorous brushing of the hair can be suggested as the etiological factor of matting.

Palpebral syringomas have been reported to be more frequent in patients with Down's syndrome than in the normal population.The aim of the present study was to evaluate, in a population of institutionalized patients with Down's syndrome, the prevalence of syringomas and their possible cytogenetic relationships.Sixty-one institutionalized patients with Down's syndrome were examined in order to assess the presence of palpebral syringomas. Sixty mentally retarded non-Down's syndrome individuals were used to control group.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 Down's 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.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 Down's syndrome.

We report a patient with trichothiodystrophy associated with autism, mental retardation, and seizures. The diagnosis was based on the presence of brittle hair, with a marked decrease in sulfur-rich amino acid content, and characteristic features such as “tiger tail” under polarizing microscopy and trichoschisis under scanning electron microscopy. Macroscopic alterations were mostly observed in the frontal and occipital hair, with only microscopic abnormalities in the occipital hair. We consider this an unusual expression of this disease.

Prurigo pigmentosa is a papular pruriginous eruption that leaves a marble-like pigmentation. The majority of cases have been found in Japan. Three new female. Sicilian patients with prurigo pigmentosa were studied. All of them had previously been diagnosed as having different types of dermatitis. The administration of minocycline, at a dosage of 100 mg/day for 1 month, induced the disappearance of the papular eruption and pruritus in two patients, with an improvement of the gross reticular pigmentation. The third showed no modifications of the clinical picture after 2 months of minocycline treatment, but her condition significantly improved after 1 month of treatment with diaminodiphenylsulfone, 100 mg/day. These observations allow us to suggest that prurigo pigmentosa might be relatively frequent but misdiagnosed in the Sicilian population.