Identification of categories at risk for high quality of life impairment in patients with vitiligo.

BACKGROUND: Quality of life (QoL) in patients with vitiligo is strongly impaired. Therefore, it seems inadequate to describe the severity of the disease using only physical indicators. OBJECTIVES: To investigate the QoL of patients with vitiligo, identifying categories at risk for high impairment, also analysing single questions from a QoL instrument. METHODS: The Skindex-29 questionnaire, a QoL dermatology-specific instrument, was completed by 181 consecutive patients with vitiligo. Answers to the Skindex-29 items were given on a five-point scale, from 'never' to 'all the time'. Results The QoL problems more frequently experienced 'often' or 'all the time' were: worry of the disease getting worse (60%), anger (37%), embarrassment (34%), depression (31%), having social life affected (28%), and shame (28%). The prevalence of patients with probable depression or anxiety, evaluated using the 12-item General Health Questionnaire, was 39%, and the prevalence of patients with alexithymia, evaluated using the 20-item Toronto Alexithymia Scale, was 24%. The association of QoL impairment with psychological problems was very strong for all the items, and remained significant also when taking into account simultaneously gender, age, clinical severity, family history, and localization of vitiligo. CONCLUSIONS: Detailed information on QoL in patients with vitiligo may lead dermatologists to pay particular attention to patient categories at risk for a high QoL impairment.

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.

Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, and frequently, delayed age of onset. We report the clinical and molecular characterization of seven Italian DEB patients, three affected with recessive DEB-Pr and four with dominant DEB-Pr. In all the patients, the signs were typical of a mild DEB phenotype, until the onset of pruritus, which was followed by worsening of the clinical picture, with appearance of the distinctive lichenified lesions of DEB-Pr. Nine mutations were found in the COL7A1 gene, three of which were novel and one was de novo. DEB-Pr patients with either dominant or recessive mutations were shown to synthesize a normal or variably reduced amount of type VII collagen, which was correctly deposited at the dermal-epidermal junction. Since six of these mutations have been reported in DEB patients in the absence of intense pruritus, these data implicate a role of yet unidentified phenotype-modifying factors in the pathogenesis of DEB-Pr.

[PTPN11 gene mutation in LEOPARD syndrome]. / Mutazione del gene PTPN11 nella sindrome LEOPARD.

The multiple lentigines/LEOPARD syndrome (ML/LS) is a rare and complex genetic syndrome. It is an autosomal dominant disorder with a variable expressivity. The syndrome is mainly characterised by growth retardation, multiple lentigines, and congenital heart diseases with electrocardiographic anomalies, dysmorphia of the face and deafness. The incidence of this pathology is still unknown and a familial inheritance is present in 70% of cases. Some of the ML/LS clinical features are the same as those of the Noonan syndrome (NS), such as congenital cardiac abnormalities, dysmorphia and growth retardation. NS and ML/LS are caused by allele mutations of the PTPN11 gene. We report the case of a 3-year-old girl, who was observed for the presence of widespread lentigines, a 1/6-protosystolic murmur at the mesocardium and growth retardation. The diagnosis of ML/LS was made and thus a molecular analysis of the PTPN11 gene was carried out, directly sequencing the codifying region. The molecular analysis revealed a missense mutation (A836G) in hexone 7 (TYR279CYS) of the PTPNII gene. This mutation is has been observed, at present, in a few cases of ML/LS and Noonan syndrome.

[Successful treatment of Norwegian scabies with ivermectin in a patient with recessive dystrophic epidermolysis bullosa]. / Scabbia norvegese ed epidermolisi bollosa distrofica recessiva: efficacia della terapia con ivermectina.

A 14 year-old female born from consanguineous healthy parents was admitted to our institute for the presence of a generalized bullous eruption started at birth. The bullae were asymmetrically distributed all over the cutaneous surface and, over time, evolved into erosions that resolved with scarring areas. On the basis of the clinical picture and the ultrastructural and antigenic studies, a diagnosis of recessive dystrophic epidermolysis bullosa was made. In the following months, the patient began to complain a severe pruritus and the bullae and erosions were accompanied with diffuse erythematous patches and plaques covered by thick scale-crusts situated mostly on the arms. Microscopic examination of the scales revealed the presence of many mites and ova. Since the conventional topical therapies for scabies were uneffective, the patient was treated with a single dose (200 mcg/hg) of ivermectin. Although there was an initial improvement, scabies recurred within 2 months from discontinuation of the therapy. Finally, a further single administration of ivermectin at the same dosage led to the complete and permanent resolution of scabies. The association of recessive dystrophic epidermolysis bullosa and norwegian scabies has been already reported in literature. The case presented suggests that ivermectin represents an effective drug for severe forms of scabies occurring in patients affected by other dermatoses that prevent the use of topical treatments.

[Cutaneous hyperpigmentation of the distal falanx in a newborn]. / Iperpigmentazione cutanea delle falangi distali in un neonato.

A case of distal falangeal hyperpigmentation in a 2-month female newborn, who did not show any other cutaneous disease at the time of our observation, is presented. The aim of our study is to focus attention on this condition, actually considered a benign, asymptomatic, transitory manifestation, rarely reported in literature. On the basis of the clinical features, it has been proposed to add this pigmentation to the transient benign dermatoses of newborns.

[Erythema nodosum induced by kerion celsi in a child with hypomelanosis of Ito]. / Eritema nodoso indotto da Kerion Celsi in un bambino con Ipomelanosi di Ito.

A 3-year-old boy presented with an 8 week history of inflammatory nodular lesions on the scalp. Shortly afterwards painful subcutaneous nodules developed on the lower legs. Epidermophyton floccosum was isolated from the scalp lesions and a diagnosis of erythema nodosum induced by kerion celsi of the scalp was made. The patient was started on oral therapy with 250 mg/day griseolfuvin, associated with topical eosine and myconazol. Erythema nodosum represents a reaction pattern to a wide variety of inflammatory stimuli. The interest of this case lies in the unusual association of kerion celsi and erythema nodosum and in the identification of Epidermophyton floccosum in the lesions of the scalp.

Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene.

Atrichia with papular lesions (APL) is a rare autosomal recessive disorder resulting in complete and irreversible hair loss shortly after birth. Affected individuals also develop papular lesions of keratin-filled follicular cysts over extensive areas of the body. Mutations in the hairless gene, a putative single zinc-finger transcription factor protein, have been implicated in the pathogenesis of APL. In this report, we describe a novel missense mutation, E583V, in the hairless gene in an Italian family affected with APL. The mutation resides between the LXXLL motif found in TRIPs (thyroid hormone receptor interacting proteins) in exon 5 and the six-cysteine zinc-finger motif in exon 6. The amino acid sequence neighbouring the LXXLL motif and zinc-finger domain is highly conserved in human, monkey, rat, and mouse hairless proteins. Our finding extends the body of evidence that supports the importance of the zinc-finger and LXXLL domains in the function of the hairless protein. Moreover, we continue to find small APL families without consanguinity from around the world.

Antibodies against human herpesvirus 8 in subjects with non-venereal dermatological conditions.

BACKGROUND: Human herpesvirus 8 (HHV8) is considered as the infectious cofactor involved in the pathogenesis of Kaposi's sarcoma (KS). Its seroprevalence and modes of transmission in the general population are still undetermined. OBJECTIVES: We aimed to estimate the prevalence of HHV8 infection in a population at low risk for sexually transmitted diseases. METHODS: We conducted a seroepidemiological survey on randomly selected individuals attending the dermatology department of a teaching hospital in Rome. Of 257 patients, 248 had their blood analysed for anti-HHV8 antibodies and 201 completed a standardized interview. Serological analysis was performed by an immunofluorescence assay able to detect antilytic antibodies. RESULTS: We found an overall seroprevalence of 15.7% (95% confidence interval, CI 11.4-20.9%), similar in men and women (15.1% vs. 16.3%) and higher at older ages. Seropositivity was not related to sexual habits, while it was significantly associated with a history of hepatitis (seroprevalence 34.6%, adjusted odds ratio, OR 4.08, 95% CI 1.52-11.00) and with a diagnosis of non-melanoma skin cancer (42.9%, OR 4.20, 95% CI 1.26-14.02) or atypical naevi (35.3%, OR 6.21, 95% CI 1.85-20.86). CONCLUSIONS: Our data suggest that a non-sexual mode of transmission of HHV8 infection is plausible in an Italian population at low risk for sexually transmitted diseases and that other factors, besides differences in prevalence of HHV8 infection, may be involved in the epidemiology of classical KS. The unexpectedly high seropositivity rates in subjects with non-melanoma skin cancer and atypical naevi should be viewed with caution and require confirmation.