R. De Pasquale

The use of imiquimod 5% cream for the treatment of basal cell carcinoma as observed in Gorlin's syndrome

Summary Gorlins syndrome (naevoid basal cell carcinoma) is an autosomal dominant tumour‐predisposition syndrome. It typically consists of multiple basal cell carcinomas (BCCs) of the skin, odontogenic keratocysts of the jaw, various skeletal abnormalities and lamellar falx calcifications. Four patients with multiple facial and trunk BCCs (superficial and nodular) consistent with Gorlins syndrome are reported. Imiquimod 5% cream was topically applied to the lesions 3–5 times a week for 8–14 weeks. Two of the patients suffered mild to severe erythema and developed superficial erosions but did not discontinue treatment. Imiquimod 5% cream successfully treated 13 out of 17 BCCs in these patients with Gorlins syndrome, with no patient suffering a relapse at the follow‐up visit.

Primary classic Kaposi's sarcoma of the penis: report of a case and review.

Kaposis sarcoma is a vascular tumour of multifocal origin occurring primarily on the extremities. The case of a 45‐year‐old HIV negative and HHV‐8 positive man with an asymptomatic reddish macular lesion on the inner layer of the prepuce is described. Although primary penile Kaposis sarcoma is a relatively uncommon disorder in HIV negative men, dermatologists and venereologists should consider this possibility when treating non‐specific penile lesions. A minimal penile lesion with non‐distinctive clinical features may sometimes be the exclusive manifestation of Kaposis sarcoma, making histologic evaluation necessary to establish the diagnosis.

Topical imiquimod treatment of superficial and nodular basal cell carcinomas in patients affected by basal cell nevus syndrome: a preliminary report

BACKGROUND: Imiquimod 5% cream has been shown to be effective in the treatment of superficial basal cell carcinomas (sBCCs). OBJECTIVE: To evaluate the efficacy, safety and compliance of imiquimod 5% cream for the treatment of sBCCs and nodular BCCs (nBCCs) in patients affected by basal cell nevus syndrome. PATIENTS/METHODS: Three patients (two male, one female) were enrolled in the study. Nine tumors (five sBCCs and four nBCCs), all ranging in size from 0.5 cm to 1 cm, were treated. Treatment consisted for sBCCs of three weekly applications and for nBCCs of five weekly applications for 8 weeks. Histological examination was performed at the beginning and at the end of the study. For small tumors, similar-appearing lesions were removed for baseline histological confirmation. Follow-up was performed at 1-week intervals in order to carefully detect any change. RESULTS: Three sBCCs cleared clinically after 4 weeks of treatment and two nBCCs after 8 weeks. The remaining four lesions showed excellent clinical responses with evident (>50%) size reduction at 6 weeks, but no further improvement. Histological examination with multiple-step sections confirmed complete clearing for those lesions showing clinical resolution, except for one nBCC that showed scant tumor remnants. Local adverse effects (itching, erythema and bleeding) were mild and did not prompt discontinuation of treatment. No systemic side effects were noted. CONCLUSIONS: Imiquimod 5% cream is an effective therapeutic option for both sBCC and nBCC in patients with basal cell nevus syndrome. The treatment was very well received by all patients engaged in the study, who stated their appreciation for a topical treatment rather than multiple surgical excisions. A higher number of applications and longer treatment periods are required for nBCCs.

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.

Elastosis perforans serpiginosa in an adult with Down's syndrome: report of a case with symmetrical localized involvement.

Elastosis perforans serpiginosa (EPS) is a rare perforating dermatosis in which elastic fibers extrude from the papillary dermis producing umbilicated papules, characteristically arranged to form arciform or serpiginous patterns on the skin. It can be observed in patients with Downs syndrome, in whom in some cases the disease has been reported to be more widespread and to run a longer course. We present the case of a 20‐year‐old girl with Downs syndrome, hypothyroidism, acne and hypertrichosis, who had a 2‐year history of multiple atrophic lesions with an arciform pattern on the distal extensor portions of both thighs, histologically showing the typical features of EPS.

Treatment of Hailey-Hailey disease with oral erythromycin

Hailey-Hailey disease is a rare autosomal dominant acantholytic disorder characterized from late adolescence or adulthood by recurrent eruptions of vesicles and blisters usually located on the neck, axillae and groin. The clinical cases of four unrelated adult male patients with Hailey-Hailey disease are presented. In all patients, a relatively short-course treatment with oral erythromycin (3-4 weeks) induced a longlasting remission (8 months). Since bacteriological investigations excluded local infection, other hypothetical pharmacological effects (anti-inflammatory action and inhibition of cytokine release), besides the antibacterial properties of erythromycin, should be considered to explain such clinical improvement. However, until precise information about the pathogenesis of Hailey-Hailey disease is available, the mechanism of action of erythromycin in this disease remains speculative. Further studies in larger series of patients are needed in order to assess the role of erythromycin, and perhaps other macrolides, as a standard therapeutic option for Hailey- Hailey disease. (J Dermatol Treat (2000) 11: 273-277)

A single nodule on the leg as a cutaneous manifestation of myelogenous leukaemia.

© 2005 European Academy of Dermatology and Venereology JEADV (2005) 19, 638–659 Because the review of the literature has disclosed that this particular form of keratoderma could be hereditary or acquired, genetic or sporodic, transient or persistent and that hair abnormality and atopic diathesis could be accompanying features, we believe that the plethora of appellations only perplex this entity (Table 1). Because the only constant feature of all the reported patients including ours is the typical whitish papulotranslucent lesions located on the palmoplantar region that accentuates after a short period of water exposure, the term aquagenic papulotranslucent acrokeratoderma (APA) would be a more descriptive and accurate nosology for this entity.

Allergic contact dermatitis and thimopentine

In a large lindane-producing factory near Tianjin, China, workers in one subunit had typical acneiform and cystic lesions on the face and scrotum, consistent with chloracne. The subunit was processing nongamma isomers of cyclochlorohexane into pentachlorophenol (PCP). Out of I 18 workers in this subunit, 44 were affected. Of the 40 workers stationed in the area where trichlorobenzene (TCB) was utilized as an intermediate step, all had signs of chloracne. Since the production process had the potential for the formation of various halogenated dibenzodioxin and dibenzofuranes as contaminants, factory product samples were analyzed for the presence of these contaminants by means of a two-step procedure: separation by chromatography and identification by mass-spectrophotometry, with a detection level of 0.2 ng or 0.1 ppb. In the TCB processing area, workers were exposed to a time-weighted average concentration of 40 mg/m3 TCB in ambient air. Surprisingly, a sample of liquid TCB was found to contain virtually no dioxins, while the factorys endproduct, PCP, contained only 6.3 ppb of the most toxic congener, 2,3, 7 ,8-tetrachlorodibenzo-p-dioxin, and a total of 108 ppb toxicity equivalents of the other chloro-dibenzo-p-dioxins and dibenzofuranes. It is not clear whether this low level of contamination of the non-volatile end-product can explain the occurrence of chloracne in TBC-exposed workers. Alternative explanations will be examined.