Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association?

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis with a variable degree of visual impairment. Both sporadic and familial forms of the syndrome have been described, the latter usually showing a dominant pattern of inheritance. The molecular lesion responsible for the syndrome typically involves the connexin 26 (Cx26) gene (GJB2). Most patients display the heterozygous c.148G→A mutation causing the substitution of an aspartic acid for an asparagine at position 50 (p.Asp50Asn), while a few of them show the c.50C→T mutation, implying the substitution of a serine for a phenylalanine at position 17 (p.Ser17Phe). However, even a mutation in the connexin 30 (Cx30) gene (GJB6) has been found in a typical KID patient, thus suggesting a genetic heterogeneity of the syndrome. As connexins are a large family of small integral membrane proteins which influence tissue cornification by modulating the establishment of direct cell-cell communication through gap junction channels, it is likely that defects involving this class of proteins are at the basis of the wellknown increased incidence of squamous cell carcinoma in KID patients

High prevalence of antibodies to human herpesvirus 8 in relatives of patients with classic Kaposi's sarcoma from Sardinia

A survey for antibodies to a recombinant small viral capsid antigen (sVCA) of human herpesvirus type 8 (HHV‐8) was conducted in Sardinia, one of the world's highest incidence areas for classic Kaposi's sarcoma (KS). Prevalence of antibodies to HHV‐8 sVCA was greatest in patients with KS (95%), followed by family members (39%) and a Sardinian control population age‐ and sex‐matched to the relatives (11%). Within families, prevalence of antibodies was about equal among spouses, children, and siblings of KS patients, a finding that raises the possibilities of intrafamilial person‐to‐person or vertical transmission. Antibodies were detected 2–3 times more frequently in males than in females. The data show that prevalence of antibodies to HHV‐8 sVCA correlates with the distribution of classic KS in a high‐ incidence area. Clustering of seroprevalence within some families suggests the presence of familial risk factors for active HHV‐8 infection

Environmental factors influence the rate of human herpesvirus type 8 infection in a population with high incidence of classic Kaposi sarcoma

High prevalence of human herpesvirus type 8 (HHV-8) infection has been reported on the island of Sardinia. Among emigrants from Sardinia, rates of HHV-8 infection are lower than they are in Sardinia and are similar to those observed in the local population. Thus, environmental factors seem to play a relevant role in affecting the prevalence of HHV-8 infection

skin reaction in antiviral therapy for chronic hepatitis c a role for polyethylene glycol interferon

In the past decade, different modalities of antiviral therapy have been adopted aimed at eradicating hepatitis C virus infection. Initially, interferon was used in monotherapy, then interferon combined with ribavirin and amantadine. Recently, interferon has been conjugated with polyethylene glycol to allow optimization of its pharmacokinetic properties and to improve its antiviral activity. This study focused on the characteristics of the skin reactions that we observed in 27 patients with naive hepatitis C who received polyethylene glycol interferon-ribavirin-amantadine or polyethylene glycol interferon-ribavirin and in 10 previous non-responders to interferon monotherapy who were retreated with triple therapy. In 9 patients (7 on triple therapy) dermatitis-like lesions were observed, and in 5 the severity of the lesions necessitated withdrawal from therapy

Lichen planus in children: a case report

Lichen planus (LP) is rare in children. A review of the literature reveals that it has some peculiarities with respect to sex, localization, clinical aspect, race, and family history. We present an Indian child with the documented peculiarities of infantile LP. A comparison of LP and graft-versus-host disease points to the Importance of thymic Involution in the pathogenesis of the former, which could explain the rarity of this disorder in infants

Amicrobial pustular dermatosis of the folds and Dapsone syndrome on treatment: a case report

Amicrobial pustolosis of the folds (APF) is a recently described, relapsing, primary aseptic pyoderma involving predominantly the cutaneous folds and the scalp and is often associated with autoimmune diseases or immunological abnormalities. We describe such a case in a lupus erythematous patient under corticosteroid therapy

Kaposi's sarcoma associated with treatment with adalimumab

A 61-year-old man, born and residing in Sardinia, came to our observation in March 2009 because of the appearance of purplish-red papulonodular lesions, located on his feet and hands. In addition, there was an isolated papule located on the distal portion of the lower right leg. The past medical history highlighted that the patient has been affected by rheumatoid arthritis since 2005, treated with leflunomide and methylprednisolone.</br

Follicular spicules and multiple ulcers: cutaneous manifestations of multiple myeloma

We describe 2 patients with multiple myeloma who had horn-like filiform spicules in the follicular orifices of the face, particularly on the nowe, and multiple small ulcerations on the trunk. In the first patient, histopathologic study of a specimen from the nose showed follicular plugs of compact homogeneous eosinophilic material filling the intercellular spaces surrounding the keratinocytes. The same eosinophilic deposits were seen in the ulcer. In the second patient, biochemical investigation revealed that skin matter from spicules and ulcers were made up of monoclonal dysprotein with electrophoretic characteristics identical to those found in patient serum

Cutaneous sporotrichoid leishmaniasis resistant to pentavalent antimonial therapy: complete resolution with itraconazole

Sporotrichoid leishmaniasis is a sporadic form of cutaneous leishmaniasis, a protozoal infection, reported particularly in the Middle East. Clinically it occurs as nontender, subcutaneous, slightly erythematous nodules, often associated with lymphangitis, usually on exposed areas of the skin. Sometimes it occurs after treatment with a single dose of antimonials, and in older lesions, the biopsy can be negative for amastigotes. We report a case of cutaneous sporotrichoid leishmaniasis unresponsive to intralesional pentavalent antimonial therapy, which completely resolved after treatment with oral itraconazole. To our knowledge, this is only the third such case reported. We discuss the causes of dissemination of the nodular lesions and the negative results for amastigotes on re-biopsed lesions

PCR analysis of <i>Mycoplasma fermentans</i> and <i>M. penetrans</i> in classic Kaposi’s sarcoma

Kaposi’s sarcoma (KS) is a multicentric vascular neoplasia characterized by macules, nodules and angiomatoid plaques mainly present on the skin surface. Four KS variants are recognized: classic or Mediterranean; endemic or African; the variant following on renal transplant or immunosuppressive therapy; and, lastly, the epidemic or AIDS-associated variant. The variants differ in the sites involved, course of the disease and in their prognosis. Genetic, immunological, environmental and viral factors have proven to be relevant in the aetiology and pathogenesis of all KS variants. In addition, further possible interacting factors such as mycoplasma infections have come to attention for the single variants