Chiara Panetta

Epithelioma of Malherbe: new ultrasound patterns

BackroundCalcifying epithelioma of Malherbe, or Pilomatricoma, is considered an uncommon cutaneous neoplasia, normally occurring in children as a solitary, firm, asymptomatic, hard, subcutaneous, slowly growing nodule on the face, neck, or proximal upper extremity. In literature, two Pilomatricoma ultrasound patterns are described: the totally calcified nodule and the hypoechoic nodule with internal calcific foci. High frequency ultrasound has not yet been applied for routine diagnosis of Pilomatricoma. The aim of the study was to retrospectively identify specific ultrasound features.MethodsWe retrieved 124 histologically Pilomatricoma cases: 28 patients with 32 lesions were preoperatively evaluated with ultrasound.Results22/32 have shown a solid formation, hypoechoic, with a sharp outline. Of these 22, 10 lesions were completely calcifying and 12 partially calcified. In 3/32 lesions with uncertain diagnosis, ultrasounds showed a complex/mixed pattern with pseudo-fluid areas and microspots. 7/32 lesions with US different diagnosis included 3 complex lesions, 2 cystic lesions and 2 solid nodular lesions.ConclusionIn addition to well-known ultrasound patterns (completely calcified and partially calcified) we identified three new, not yet described, patterns that constitute the 31% of the cases: complex, pseudocistyc and pseudotumoral.

Efficacy of a new aluminium salt thermophobic foam in the treatment of axillary and palmar primary hyperhidrosis: a pilot exploratory trial

ABSTRACT Primary or idiopathic hyperhidrosis (PH) is a disorder of excessive eccrine sweating glands that mainly affects the axillae and the palms. The treatment options for PH involve a range of topical or systemic medication and/or surgical invasive techniques. The common topical treatments are aluminium salts which act by blocking the duct of the eccrine gland or by atrophying the secretory cells. Recently, a new low-residue thermophobic foam formulation (VersaFoam*, Mipharm Spa, Milan, Italy), containing 20% of an aluminium salt (sesquichlorhydrate), has been developed. The foam is easy to apply especially in hairy body sites. * VersaFoam is a registered trade name of Connetics Corporation, Palo Alto, California, USA Objective: to evaluate the efficacy and the tolerability of the new aluminium salt foam in the treatment of axillary and palmar PH. Patients and methods: Twenty patients were enrolled in a single-centre, open-label follow-up study. The Minor test score (range 0–3) and the Dermatology Life Quality Index (DLQI), were used to evaluate the amount of sweating and the impact on quality of life. The foam was applied to dry, clean skin, every night during the first week of treatment, and three times a week during the second week of treatment. Evaluation of the results was performed at baseline and at 7 and 15 days after treatment. Patients were monitored throughout the study for adverse events. Results: All of the 20 enrolled patients completed the study. The foam resulted in a significant reduction of the Minor score in comparison with baseline values in both the axillary ( p = 0.0002) and palm regions ( p = 0.0047). By the end of treatment (day 15) the foam had reduced the amount of sweating in the axillae and palm regions by 50% (Minor score: 4.1 vs. 8.1) and 53% (Minor score: 4.0 vs. 8.5), respectively. Use of the foam showed a positive impact in the DLQI for patients with axillary but not palm hyperhidrosis. No side effects were reported during the study duration by the patients. Conclusion: The new foam has been shown to be an effective topical treatment in reducing sweating in patients with axillary and palm PH. This formulation is well tolerated in the short term. Further studies are warranted to evaluate the efficacy and safety in the medium and long term.

Microinvasive squamous cell carcinoma arising on lichen sclerosus of the penis

The case of a 70‐year‐old white man with a 10‐year history of penile lichen sclerosus (LS) who developed microinvasive squamous cell carcinoma on LS is described. A high incidence of penile cancer arising on genital LS has recently been observed. The authors stress the importance of an adequate diagnosis and long‐term follow‐up in patients with penile LS because of the malignant potential of the disease.

Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening

MicroRNAs are small non-coding RNAs, which inhibit expression of specific target genes at the post-transcriptional level and are often misregulated in human cancer. Among them, miR-34a is considered a tumor suppressor with a hypothetical role in melanoma tumorigenesis. In this work, 62 Italian index patients with familial melanoma and negative for CDKN2A/CDK4 screening were investigated for miR-34a germline mutations. Eight novel miR-34a sequence variants were identified at both the heterozygous (c.+259G>A, c.+424G>A, c.+1465C>T, c.+1769C>T, c.+2456T>G, c.+2603C>T, c.+2972T>A, c.+3069T>C) and homozygous (c.+424G>A, c.+1465C>T, c.+1769C>T) states. Molecular screening identified all nucleotide changes in a healthy population of 150 controls and demonstrated that they are common polymorphisms. However, statistically significant differences of allele and genotype frequencies were detected for c.+1465C>T and c.+1769C>T, and borderline values for c.+2456T>G. By stratifying patients by relevant clinical features (presence/absence of multiple primary melanoma, Breslow’s thickness, phototype and number of nevi), no significant findings were noted except for an association between the c.+424G>A (heterozygous individual GA) and multiple primary melanoma and phototype III–IV. Our preliminary study suggests that miR-34a, although having a role in late tumorigenesis, does not contribute to the inherited susceptibility to cutaneous melanoma. A function as phenotypic modulator in familial melanoma cannot be excluded.

Molecular characterization of 11 Italian patients with Darier Disease

Darier disease (DD) is an autosomal dominant genodermatosis characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Heterozygous mutations in ATP2A2, encoding the sarco-endoplasmic reticulum calcium pumping ATPase type 2, are identified as the molecular basis of DD. In this study, molecular features in a large cohort of Italian patients are reported. Molecular data were collected along with the main clinical features. Genomic DNA was used for direct sequencing of ATP2A2. The effect of selected mutations was predicted by in silico analysis or investigated by gene expression studies. 10 different ATP2A2 mutations were identified. Three mutations (c.2300A>G, c.2794G>A, c.569delAins34) have been previously described, while 7, including 2 missense (c.545G>A and c.2116G>A), 2 nonsense (c.1372G>T and c.1675C>T), 1 small deletion (c.142delA), 1 duplication (c.2935_2949dup15) and 1 splice-site mutation (c.2742-1G>A), were novel. Collected data added new variants to the ATP2A2 repertoire and confirmed that ATP2A2 mutations are scattered over the entire gene and, in most cases, private.

Biliopancreatic Diversion: When a Cure Becomes a Disease

Phrynoderma is a type of follicular hyperkeratosis located primarily on the extensor surfaces of the extremities. It is most commonly seen in Africa and Southeast Asia, where it is correlated with malnutrition; however, it is rare in developed countries, where it is often the result of malabsorption secondary to pancreatic insufficiency, colectomy, chronic giardiasis, and bariatric surgery. Here, we report a case of a 51-year-old white male patient, who presented to our Institute with a 1-year history of diffuse, reddish-brown asymptomatic papules associated with follicular nodules. In association with cutaneous symptomatology, the patient complained of also having night blindness. The patient, 4 years before, underwent a bariatric surgical treatment, which included a biliopancreatic diversion. Histologic examination of skin biopsy revealed hyperkeratosis and irregular acanthosis of the epidermis in association with dilated follicular infundibulum filled with keratinous material, whereas the laboratory investigations showed hypovitaminosis A. Based on the patients history and cutaneous biopsy, a final diagnosis of phrynoderma was made. The steady increase of obesity in developed countries results in a relative increase in bariatric surgery. This must involve a multidisciplinary team to manage nutrition deficiencies and prevent possibly important complications, as mentioned in this report.

Resolution of Benign and Malignant Sebaceous Neoplasms, in a Renal Transplant Patient Treated With Everolimus.

Nonmelanoma skin cancers are the most common malignancies in transplant recipients under immunosuppression; nevertheless, appendage tumors also may appear. The onset of several cutaneous neoplasms in transplant patients can cause deterioration in quality of life of these patients. A 62-year-old white woman patient developed several malignant and benign sebaceous neoplasms during an immunosuppressive treatment for a renal transplant. The genetic study showed a mutation in MSH6-eson 1 (c116G>A), without mutations in MLH1 gene and MSH2. A final diagnosis of multiple sebaceous tumors in an immunosuppressed patient without Muir -Torre syndrome was made. The spreading of further cutaneous neoplasms led to a change in immunosuppression: namely, that clinicians suspended tacrolimus and add everolimus. After 2 months, all tumor lesions on the face and on the limbs have disappeared, and no further lesions occurred. Everolimus could represent a valid therapeutical treatment for transplant patients at high risk for cutaneous tumors. A genetic consult and a consequent study of the genetic profile should be performed on each of these patients, to avoid risks of recurrent cutaneous tumors and negative effects on the quality of life.

Cutaneous mastocytosis combined with eruptive melanocytic nevi and melanoma. Coincidence or a linkage in the pathogenesis

BACKGROUND Cellular combinations in the same neoplasm can have intriguing physiopathological implications, which may be useful to better understand the biology of the diseases. MAIN OBSERVATIONS Urticaria pigmentosa in association with eruptive melanocytic nevi was observed in a female patient. Maculopapular lesions extended at the base of different melanocytic nevi and the histopathological examination revealed the presence of a mast cell population in the papillary and reticular dermis combined with overlying melanocytic nevi. The re-evaluation of a melanoma removed three years before revealed the presence of the same pathological features. Immunohistochemical assays showed a strong positivity to Giemsa, Toluidine blue and CD-117 in the mast cells, while a S-100 reaction was observed in the melanocytic population. CONCLUSIONS We discuss possible pathogenetic linkage between cutaneous mastocytosis and melanoma.

Early Angiosarcoma of the Scalp: A Clinicopathological Pitfall.

Abstract:Angiosarcoma (AS) is a rare malignant vascular tumor, which affects mainly elderly patients. After the diagnosis, the mean overall survival of patients is 30 months. The variable presentation of the malignancy, the benign appearance of the cutaneous lesions, and the minimal histological changes in early lesions can sometimes delay the correct diagnosis. The authors report a case of an 80-year-old white male patient, with a painless and ecchymotic lesion of the scalp, which histologically showed minimal pathological atypia, conclusive for a diagnosis of AS with minimal histological changes. The authors discuss the main and most emblematic cases of AS initially misdiagnosed for other cutaneous diseases reported in the literature, noting that in some cases, also the histology can be treacherous and a trap for the dermatopathologist. The recent findings on MYC, FLT4 and KDR amplification, and the relative therapeutic perspectives are also discussed. Finally, the authors draw up some pathological cornerstones, which could improve the diagnosis, above all in early lesions with minimal atypia.

Linear ectopic sebaceous hyperplasia of the penis: the last memory of Tyson's glands

Pathologists who find ectopic glands on the glans and/or on the prepuce, often describe them as Tysons glands. In this regard, the term Tysons glands can be replaced by two different descriptive expressions: papillomatosis corona penis and ectopic sebaceous glands. A 15-year-old Caucasian male patient presented to our Institute with multiple and asymptomatic circular skin colored-to-yellowish papules at the level of the foreskin, also affecting the shaft of the penis, where they assumed a linear feature. The histological examination revealed hyperplastic and dilated sebaceous glands, while in some areas these glands showed also a direct attachment with the epidermis. A lymphocytic infiltrate was also observed in one of the two specimens. A final diagnosis of linear ectopic sebaceous hyperplasia of the penis was made. According to the current report, the ectopic sebaceous hyperplasia of the penis can have a circular and a linear patter, as well as the presence and the absence of a lymphoid infiltrate. A correct clinical and pathological diagnosis are necessary to avoid unnecessary treatments and worries in the patients. In fact, not infrequently, this condition is confused with dermatological diseases as molluscum contagiosum, epithelioid granuloma, lymphangioma circumscriptum, multiple syringomas, lichen planus, and bowenoid papulosis.