Ehlers-Danlos syndrome: case report and an electron microscopy study.

Ehlers-Danlos syndrome (EDS) type III is a inherited connective tissue disorders characterized by extensibility of the skin, hypermobility of the joints, chronic pain, tissue fragility, easy bruising, and delayed wound healing with result of atrophic scars. The patients report commonly a history of recurrent dislocations of the shoulders and knees after low-impact trauma, chronic joint pain, and early osteoarthritis, which lead to diagnosis. The pathogenesis of this condition is unknown, and the diagnosis is generally made in adult age, based only on clinical criteria. In this report, we describe a case of a 50-year-old woman with a 30-year history of recurrent dislocations and atrophic scars. We performed diagnosis of EDS type III after a complete clinical and instrumental evaluation, comprising of histological and electron microscopic studies, that highlighted collagen abnormalities.

Churg-Strauss and montelukast.

Churg-Strauss syndrome (CSS) is a systemic small vessel vasculitis involving lungs, skin, heart, gastrointestinal tract and peripheral nerves. We report the case of a 36-year-old woman with a necrotic lesion on the left foot of two months duration, associated with hypereosinophilia, patchy lung infiltrates, cardiac damage and a mononeuritis. The personal history was remarkable only for an asthma, treated with Montelukast, a leukotriene receptor antagonist (LRA). Clinical symptoms, laboratory exams and instrumental examinations led us to the diagnosis of CSS. In recent years several studies have reported the possible relationship between use of leukotriene receptor antagonist (LRA) and CSS expression. We report this case to underline the possible relationship between LRA and CSS and its etiopathogenetic mechanism.

An 18-year follow-up of a case of D-penicillamine-induced Elastosis perforans serpiginosa.

Elastosis perforans serpiginosa (EPS) is a rare complication of chronic therapy with a high-dose of D-penicillamine (1 g daily for more than 5 years), characterized by the elimination of abnormal elastic fibers from the upper dermis through the epidermis. D-penicillamine (DPA) is a heavy metal chelator primarily used for disorders such as cystinuria and Wilson disease. This therapy can lead to induction of EPS through a still unknown mechanism. We report the follow-up of a D-penicillamine-induced EPS in patient with Wilson disease, which prompted us to switch the therapy with trientine (another metal chelator). After 14 years the cutaneous lesions are still visible; therefore, we conclude that the DPA-induced cutaneous damage is irreversible.

Safety and efficacy of calcium folinate in psoriasis: an observational study.

An association between psoriasis and cardiovascular diseases has been reported, and treatment of this condition is often considered difficult because the conventional systemic therapies often show several side effects. To assess the efficacy and tolerability of a new drug, folinate calcium, to treat psoriasis, a total of 58 patients affected by active psoriasis were enrolled in a variable period study. These patients had clinically stable, plaque psoriasis involving greater than or equal 6% body surface area. Thirty of these patients were treated with folinate calcium therapy, 15 mg orally once daily, for a variable period based on each patients clinical response. The comparison was made with 28 psoriatic patients treated with conventional systemic therapies (cyclosporine, acitretin, etanercept, efalizumab, infliximab, adalimumab). A clinical improvement was observed in both group, but in the first one we did not observe any side effects, whereas some important side effects were observed in the second. These preliminary results support the effectiveness and tolerability of folinate calcium treatment in psoriasis.

Allergy to nickel: first results on patients administered with an oral hyposensitization therapy.

Nickel sulphate allergy is the most common contact allergy. In fact, nickel sulphate is an ubiquitous element, contained in various objects and food; it occurs in igneous rocks, as a free metal and together with iron, but it is also a component of living organism, mainly vegetables. We carried out a clinical trial of oral hyposensitization therapy with low doses of nickel in a group of 67 patients affected by systemic allergy to this sensitizer element. We obtained good results on consequent tolerance to nickel in treated patients.

Isolated oral erosions: an unusual manifestation of secondary syphilis.

The oral cavity is the most common extragenital site of infection. We report a case of a 50-year-old female with isolated oral ulceration as the presenting manifestation of secondary syphilis. In contrast with the oral lesions of primary syphilis, which tend to be solitary, painless, indurated ulcers, oral lesions of secondary syphilis are typically painful, multiple, and accompanied by a concomitant cutaneous eruption.

Gloves and socks syndrome caused by parvovirus B19 infection.

The papular purpuric gloves and socks syndrome (PPGSS) is an uncommon dermatosis with a typical purpuric exanthem limited to hands and feet; it occurs mainly in young adults. We report a case of a 19-year-old man with an acute febrile illness accompanied by purpuric and papular lesions located mostly on the dorsal areas of his hands and feet. Serologic analysis for parvovirus B19 yielded positive results. The diagnosis of PPGSS was made. The eruption cleared without therapy in 12 days with plantar and palmar desquamation. Parvovirus B19 and some other viral infections have been proven to be causative agents of this syndrome.

Familial occurrence of nevus sebaceus of Jadassohn: another case of paradominant inheritance?

We describe two sibs (a boy and a girl) suffering from linear nevus sebaceus of Jadassohn. The parents are not affected. This rare pattern of familial occurrence prompts us to suggest that these sibs represent a case of paradominant inheritance of a mosaic disorder.

Pachyonychia congenita with steatocystoma multiplex. A report of two cases and a discussion of the classification.

Pachyonychia congenita is a rare syndrome in which the main and most common clinical sign is onychodystrophy of all finger and toe nails. The most frequent type of transmission seems to be autosomal dominant, but recessive forms have also been described. Typical onychodystrophy can be associated with other clinical manifestations. The most recent literature refers to descriptions of about 250 cases up until 1993. Numerous classifications of pachyonychia congenita have been suggested by several authors over the years. We report two cases of pachyonychia congenita in association with steatocystoma multiplex in a mother and son.

HLA antigens and infantile psoriasis.

The frequency distribution of HLA-A, -B, -C and -DR antigens in a group of 52 unrelated psoriatic patients, aged from 0 to 12 years, selected according the following four clinical subsets: guttate, inverted, follicular and minimal, was evaluated. A statistical analysis on 85 infantile psoriatic patients, randomly selected, and divided into two groups according to the age of onset of the disease, was also performed. The results show an increase of HLA-B27 antigen in the minimal psoriasis, A2 in the guttate form and of B41 allele in the inverted psoriasis. A significantly prevalence of CW6 antigen either in follicular subset or in total psoriatic patients or in both groups of age was observed, showing a strict association with the disease. An increase of HLA-B17, CW6 and DR6 in the total psoriatic patients was also noticed. The authors underline the prognostic value of this analysis.

A case of lichen amyloidosus treated with acitretin.

Lichen amyloidosus is a cutaneous dermatosis clinically characterized by an hyperkeratotic brownish-grey papular eruption located on trunk and extremities, associated to severe pruritus. Histologically it is characterized by amyloid deposits in the papillary derma. Amyloid is an amorphous substance, probably derived by apoptotic keratinocites and other protein such as Apolipoprotein E. The exact pathogenesis of this deposition is not yet understood but some factors can act as favourable agents, such as pruritus. In fact this dermatosis is often associated to intensely pruritic conditions. Its treatment is very difficult but is important, because patients refer a bad quality of life. In literature have been described a lot of therapeutic options, often unefficacious. We describe herein the case of a 39-year old patient affected by Lichen amyloidosis, treated with acitretin a good improvement of cutaneous lesions and a complete resolution of pruritus after only three weeks of treatment. At actual follow-up of eight months the results are maintained.

Chronic urticaria and IgG paraproteinaemia: unusual spectrum of Schnitzler Syndrome.

Schnitzler Syndrome (SS) is a rare clinical entity of unknown etio-pathogenesis characterizated by non itching chronic urticaria, associated with an IgM monoclonal paraprotein; other symptoms as bone pain, poliarthralgia, elevated erytrocyte sedimentation rate and persistent fever, may be present. Since 1972-1974, when it was first described by Schnitzler et al. about 80 cases have been reported in literature, all characterized by chronic urticaria and IgM monoclonal gammopathy. Nashan et al, were the first to publish a case of SS with a benign monoclonal IgG, composed by light -κ- chains. We described two cases of chronic non itching urticaria with the same symptoms above mentioned, but an IgG monoclonal paraprotein instead of IgM gammopathy. Therefore in according to Nashan et al, we suggest that the spectrum of SS should include patients that present the same clinical picture described in 1972 in association with either IgM or IgG gammopathy.

An unusual case of annular bollous eruption of the inguinal folds.

Pemphigus herpetiformis is a rare clinical entity belonging to the group of autoimmune blistering disorders of the skin, that usually presents clinical features of dermatitis herpetiformis and immunologically findings of pemphigus. Because of the variety of its presentation, differential diagnosis with other bollous diseases is not simple and histopathological results have to be supported by direct immunofluorescence assay, for a correct diagnosis. We report the case of a young woman, where immunofluorescence was a fundamental tool to reach the diagnosis of pemphigus herpetiformis, because of the lack of acantholitic cells at histological sample.

Disseminated Superficial Porokeratosis with Dermal Amyloid Deposits.

Only 6 cases with an association of disseminated superficial porokeratosis with dermal amyloid deposits are reported in the literature. We present the case of a 76-year-old woman who presented with a disseminated superficial porokeratosis. Histological examination revealed amyloid deposits in the upper dermis, which were typed with routine HE stains, Congo red stains and anticytokeratin antibodies (AE1-AE3 and CK5). Positive staining with Congo red and, moreover, with CK5 (a cytokeratin strongly represented in the basal cell layer of the epidermis) indicates an epidermal origin of this protein.

A Case of Ketron-Goodman Disease.

Pagetoid reticulosis (PR) is a rare form of cutaneous T-cell lymphoma [Mod Pathol 2000;13:502-510]. Two variants of the disease are described: the localized type Woringer-Kolopp disease (WKD) and the disseminated type Ketron-Goodman disease (KGD). KGD may have disseminated lesions, high rate of recurrence and a guarded prognosis [Mod Pathol 2000;13:502-510]. In patients with KGD, therefore, long-term observation is necessary. Disappearance of cutaneous lesions does not mean resolution of the disease [J Am Acad Dermatol 2002;47:183-186]. Herein we report the case of an 84-year-old man with erythematous patches of the trunk and the upper and lower extremities in whom the diagnosis of KGD was made. We describe this case for the rarity of this pathology and for the good response to therapy (IFN).

Wells Syndrome with Multiorgan Involvement Mimicking Hypereosinophilic Syndrome.

Eosinophil-associated diseases represent a spectrum of heterogeneous disorders, where blood and cutaneous eosinophilia is the most important feature and eosinophils are the principal cause of cutaneous lesions. These diseases show some similarities in the clinical features but also many distinctive characteristics [Saurat et al., Dermatologia e malattie sessualmente trasmesse, Milano, Masson, 2000]. Wells syndrome is one of these disorders and is an uncommon recurrent inflammatory dermatosis, rarely associated to signs and symptoms of multiple organ involvement [Arch Dermatol 2006;142:1157-1161]. Hypereosinophilic syndrome, in contrast, constitutes a group of idiopathic disorders characterized by blood eosinophilia for at least 6 months, associated with single or multiple organ system dysfunction [Arch Dermatol 2006;142:1157-1161]. Clinically atypical Wells syndrome with multiorgan involvement is reported here. A correct diagnosis is difficult in this case, but clinical and histopathological features are compatible with this diagnosis. The reported condition likely represents a borderline hypereosinophilic disease, in which clinical features of both hypereosinophilic syndrome and Wells syndrome are present.