ABSTRACT
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.
Subject(s)
Ichthyosiform Erythroderma, Congenital , Ichthyosis, Lamellar , Ichthyosis , Adult , Child , Cross-Sectional Studies , Humans , Ichthyosiform Erythroderma, Congenital/diagnosis , Ichthyosiform Erythroderma, Congenital/epidemiology , Ichthyosiform Erythroderma, Congenital/genetics , Ichthyosis/diagnosis , Ichthyosis/epidemiology , Ichthyosis/genetics , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Ichthyosis, Lamellar/therapy , Italy/epidemiology , Quality of Life , Young AdultABSTRACT
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.
Subject(s)
Hyperkeratosis, Epidermolytic/genetics , Keratin-1/genetics , Keratoderma, Palmoplantar, Epidermolytic/genetics , Mutation , Child , Female , Foot/pathology , Hand/pathology , High-Throughput Nucleotide Sequencing , Humans , Hyperkeratosis, Epidermolytic/pathology , Keratoderma, Palmoplantar, Epidermolytic/pathologyABSTRACT
BACKGROUND: Prurigo nodularis (PN) is a chronic refractory itchy dermatosis. Although psychiatric comorbidity is known, research in cognitive impairment is lacking. We evaluated the occurrence and types of cognitive impairment in a series of inpatients with PN. METHODS: This was a retrospective chart review of all the patients with PN admitted to a referral neurological institute from September 2018 to March 2021. Any neurological and psychiatric disorder, along with neuroactive drugs taken, were concomitantly assessed. RESULTS: A total of 16 patients with PN (median age: 70 years, two males) were selected from a total of 1806 hospital admissions. Most of them had a neurodegenerative cognitive disorder, from mild cognitive impairment (8) to Alzheimer's disease (1), followed by mixed disorder (degenerative and vascular) in six and vascular dementia in one. Comorbid psychiatric diseases (anxiety and depression) were more common than either individual condition, followed by bipolar disorder, whereas two patients did not show psychiatric manifestations. Most patients were on combined treatment with benzodiazepines and antidepressants. CONCLUSION: Cognitive impairment can be observed in PN. In addition to screening for psychiatric comorbidity and initiating appropriate treatment or referral, clinicians may also consider the presence of cognitive impairment in PN of both degenerative and vascular origin.
Subject(s)
Cognitive Dysfunction , Prurigo , Aged , Cognitive Dysfunction/epidemiology , Comorbidity , Humans , Inpatients , Male , Prurigo/drug therapy , Prurigo/epidemiology , Retrospective StudiesSubject(s)
Alzheimer Disease/complications , Alzheimer Disease/diagnosis , Leishmaniasis, Cutaneous/complications , Leishmaniasis, Cutaneous/diagnosis , Aged , Alzheimer Disease/drug therapy , Antiprotozoal Agents/administration & dosage , Female , Humans , Leishmaniasis, Cutaneous/drug therapy , Meglumine Antimoniate/administration & dosageABSTRACT
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. We report the case of a 29-year-old woman with central and peripheral nervous system involvement who presented with progressive clinical deterioration and a meningovascular pattern at cerebral MR imaging; other organs were spared in this patient.
Subject(s)
Central Nervous System/pathology , Peripheral Nerves/pathology , Skin Diseases, Papulosquamous/diagnosis , Adult , Blood Vessels/pathology , Female , Humans , Magnetic Resonance Imaging , Meninges/blood supply , Meninges/pathology , Skin/pathology , Skin Diseases, Papulosquamous/pathologySubject(s)
Dermatitis/diagnosis , Lichen Planus/diagnosis , Skin/pathology , Arm , Back , Biopsy , Cyclosporine/therapeutic use , Diagnosis, Differential , Drug Therapy, Combination , Humans , Immunosuppressive Agents/therapeutic use , Lichen Planus/drug therapy , Lichen Planus/pathology , Middle Aged , Skin/drug effects , Steroids/therapeutic use , Treatment OutcomeSubject(s)
Angiofibroma/surgery , Cryosurgery/methods , Facial Neoplasms/surgery , Tuberous Sclerosis/surgery , Adolescent , Adult , Female , HumansSubject(s)
Breast Neoplasms/pathology , Nipples/pathology , Polyps/pathology , Pregnancy Complications, Neoplastic/pathology , Tuberous Sclerosis/complications , Adult , Breast Neoplasms/complications , Breast Neoplasms/diagnosis , Causality , Disease Susceptibility , Female , Humans , Polyps/complications , Polyps/diagnosis , Pregnancy , Pregnancy Complications, Neoplastic/diagnosisSubject(s)
Neoplasms, Multiple Primary/complications , Nevus, Pigmented/complications , Skin Diseases, Papulosquamous/etiology , Skin Neoplasms/complications , Child , Cytokines/analysis , Dermis/pathology , Diagnosis, Differential , Humans , Neoplasms, Multiple Primary/pathology , Nevus, Pigmented/pathology , Pityriasis Rosea/diagnosis , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/pathology , Skin Neoplasms/pathologyABSTRACT
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.
Subject(s)
Multiple Myeloma/complications , Multiple Myeloma/diagnosis , Restless Legs Syndrome/etiology , Aged , Amines/therapeutic use , Anemia, Iron-Deficiency/diagnosis , Anemia, Iron-Deficiency/drug therapy , Anemia, Iron-Deficiency/etiology , Antiparkinson Agents/therapeutic use , Benzothiazoles/therapeutic use , Cyclohexanecarboxylic Acids/therapeutic use , Diagnosis, Differential , Female , Follow-Up Studies , Gabapentin , Humans , Multiple Myeloma/drug therapy , Polysomnography/methods , Pramipexole , Restless Legs Syndrome/drug therapy , gamma-Aminobutyric Acid/therapeutic useABSTRACT
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.
Subject(s)
Intellectual Disability/complications , Mouth/injuries , Self Mutilation/etiology , Adolescent , Adult , Anticonvulsants/therapeutic use , Antipsychotic Agents/therapeutic use , Child , Child, Preschool , Dental Calculus/etiology , Female , Gingivitis/etiology , Humans , Intellectual Disability/drug therapy , Lip/injuries , Male , Mouth Mucosa/injuries , Sialorrhea/etiology , Tongue/injuries , Tooth Abnormalities/complications , Young AdultSubject(s)
Alopecia Areata/etiology , Down Syndrome/complications , Psoriasis/etiology , Adult , Alopecia Areata/pathology , Humans , Male , Psoriasis/pathologySubject(s)
Lentigo/diagnosis , Lentigo/genetics , Ring Chromosomes , Abnormalities, Multiple/genetics , Adult , Autistic Disorder/complications , Autistic Disorder/genetics , Chromosomes, Human, Pair 21 , Female , Humans , Intellectual Disability/complications , Intellectual Disability/genetics , Lentigo/complicationsABSTRACT
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.