Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant.

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/Comèl 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.

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.

Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote deletion removing five exons (exons 17-21), encoding the histone acetyltransferase domain. We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features.

An intriguing case of Prurigo pigmentosa in a Sicilian young patient.

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.

Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.

BACKGROUND: The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported so far: (i) as pure cutaneous trait, (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome--RHS), (iii) as a distinct type (cutis tricolor parvimaculata); (iv) in association with other (e. g., vascular) skin disturbances. AIM: The aim of this study was to define the spectrum of neurological abnormalities in cutis tricolor. METHODS: A retrospective and prospective 14-year study of clinical, electroencephalographic (EEG), neuroradiological (MRI), cytogenetic and ZFHX1B gene studies of 14 individuals (8 M, 6 F; aged 2-28 years) with cutis tricolor (4 pure cutaneous; 10 syndromic) was undertaken. RESULTS: Neurological involvement was recorded in 71.4% (10/14) of the patients [100% (10/10) in RHS and null (0/4) in cases with isolated skin manifestations] and included psychomotor delay (n=8), seizures (n=9), EEG abnormalities (n=6), a behavioural phenotype (n=4), non-specific brain abnormalities (n=6). Genetic analyses excluded ZFHX1B mutations and revealed a 19qter deletion (n=1). CONCLUSIONS: Even though we could not exclude the ascertainment and referral biases, we concluded that cutis tricolor may be a marker of underlying neurological involvement particularly in subjects with a syndromic (RHS) phenotype.

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.

Friction melanosis, friction amyloidosis, macular amyloidosis, towel melanosis: many names for the same clinical entity.

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.

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. 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.

Rubinstein-Taybi syndrome with epidermal nevus: a case report.

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.