The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

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.

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.

We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation. The findings of this study expands the clinical and  spectrum and genotype-phenotype correlation associated with EI/EH.

Self-inflicted lesions of the mouth and lips in mentally retarded young subjects.

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.

Restless legs syndrome as the presenting symptom of multiple myeloma.

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.

Nervous system involvement in Degos disease.

Degos disease, or malignant atrophic papulosis, is a rare obstructive vasculopathy of unknown origin, characterized by distinctive skin lesions, visceral involvement, and an unfavorable outcome. The gastrointestinal tract and the central nervous system are most frequently affected, but cases limited to benign skin lesions have also been described. Neuroradiologic reports of this condition are exceptionally rare.

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.