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.

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.

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.

Hypomelanosis of Ito: electron microscopical observations on two new cases.

An ultrastructural study on two new cases of Ito's hypomelanosis is reported. According with previous studies on this pathological condition, a marked reduction of melanocytes is detected in the hypopigmented areas. In the proximity of preserved melanocytes, a nearly normal content of melanosomes is detected in basal keratinocytes. Melanocyte profiles are frequently located in close relationship with the basal lamina. An apparent increase of nerve endings is demonstrated at the dermo-epidermal edge. Nerve fibres show no pathological alterations. A functional impairement of the melanocytes is hypothesized, involving regressive changes and a tendence towards a round shape of their profiles. This could in part account for the prevalent basal location of the melanocytes. The role of the dermal nerve endings in the pathogenesis of the hypopigmented lesions is discussed.

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.

Prurigo pigmentosa: a misdiagnosed dermatitis in Sicily.

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.

A new family with Papillon-Lefèvre syndrome: effectiveness of etretinate treatment.

Papillon-Lefèvre syndrome is characterized by the association of palmoplantar hyperkeratosis, severe periodontitis, and early loss of deciduous and permanent teeth. We report two patients from the same family, aged 21 and 30 years, who were unaware of their pathology; one was successfully treated with etretinate.

[The echocardiographic findings of cardiac rhabdomyomas in a female patient with tuberous sclerosis and Down's syndrome]. / Rilievo ecocardiografico di rabdomiomi cardiaci in una paziente con sclerosi tuberosa e sindrome di Down.

This report described the case of a patient with cardiac rhabdomyomas and tuberous sclerosis (TS), associated with Down's syndrome. Diagnosis of TS was made subsequently to sebaceus adenomas, peri-ungual fibromas and ash leaf macules, mental retardation, epilepsy, renal and cerebral calcification findings. Physical examination, ECG and Holter ECG monitoring revealed normal cardiac findings. Two dimensional echocardiography disclosed the presence of two areas of increased acoustic density; one of which was at the level of postero-medial papillar muscle and the second appeared to be adherent to ventricular septum. Left ventricular size, function and intracavitary blood flow were normal.

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.

Hypomelanosis of Ito: a syndrome requiring a multisystem approach.

Hypomelanosis of Ito can be defined as a syndrome providing a cutaneous epiphenomenon with a peculiar pattern of distribution, usually associated with disorders of the nervous system, skeleton and eyes. Four further patients are reported and the literature reviewed. The diagnostic criteria and the differences with other pigmentary diseases distributed along Blaschko's lines are highlighted. The main histopathological features are reported and the high frequency of the associated abnormalities are emphasized. The chromosomal findings and main genetic hypotheses are discussed. The suggested follow-up aims not only at the knowledge of the natural history of this condition, but also at its better delineation.

White fibrous papulosis of the neck in three Sicilian patients.

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 pseudo-xanthoma 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.

Cardiofaciocutaneous (CFC) syndrome.

An 11-year-old boy affected by mental retardation and seizures demonstrates congenital heart defect, many dysmorphic features and dry skin. His hair is sparse over the vertex with alopecia of the eyebrows and eyelashes. There are horny small papules evident in those areas. The diagnosis of cardiofaciocutaneous syndrome has been made. The relationship between cardiofaciocutaneous and Noonan syndrome is discussed.