Sara Grassi

Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting

Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuvenous malformations are caused by autosomal dominant mutations of the GLMN gene. A 34‐year‐old woman and her 16‐year‐old son presented with bluish papules and nodules since childhood. Biopsy specimens from both patients showed histopathologic features of glomuvenous malformations, unusually in consistent and close association with smooth muscle, hair follicles and eccrine glands. Sequencing of the GLMN gene revealed the p.C36X (c.108C>A) mutation in germline DNA from both patients. This is probably the first report describing the hamartomatous features of familial glomuvenous malformations consistently associated with a prominent smooth muscle component and eccrine glands.

Unusual patterns of presentation of frontal fibrosing alopecia: A clinical and trichoscopic analysis of 98 patients

3. Chalmers TC, Smith H Jr, Blackburn B, et al. A method for assessing the quality of a randomized control trial. Control Clin Trials. 1981;2:31-49. 4. Harries MJ, Sun J, Paus R, et al. Management of alopecia areata. BMJ. 2010;341:c3671. 5. Alkhalifah A, Alsantali A, Wang E, et al. Alopecia areata update: part I. Clinical picture, histopathology, and pathogenesis. J Am Acad Dermatol. 2010;62:177-188.

Pregnancy outcome after rituximab treatment before conception in patients affected by severe pemphigus vulgaris/superficialis.

ranean region that is observed, by far the greatest diversity in darkling beetles and blaps. It is endemic to coastal cities and arid regions. Some species of blaps live in damp, dark places. Family of Tenebrionidae had not been known to bite humans or cause dermatitis as there is no recorded outbreak. These darkling beetles are black wingless organisms, moving slowly on the ground and so easily crushed. They are harmless having no clips or thorn. As defensive behaviour when threatened, blaps eject dark red chemical defences containing hydrocarbons and quinines which are a potent pigmenting fluid. The dark brown ejections can migrate into skin and cause pigmentation. Shooting the secretions explains multifocal lesions. It is important to know that many other species of coleoptera and others insects release a dark hemolymph and can be implicated in such eruption. Interestingly, in all our patients, the morphology and location of the dermatitis were similar. All patients had well demarcated acral pigmented area typically associated with a red or light brown halo. The peripheral halo might represent a specific sign. On dermoscopy, parallel-ridge pattern is evocative of melanocytic nevi, lentiginosis, early acral melanoma and exogenous pigmentation. Histological study detected features of exogenous pigment, which made the diagnosis no more doubtful. Management of this condition consists of a watchful waiting. Pigmentation improves progressively within few weeks. The awareness of this peculiar confusing condition will prevent misdiagnosis and useless explorations. S. Mokni,* L. Boussofara, W. Saidi, A. Aounallah, C. Belajouza, N. Ghariani, R. Nouira, M. Denguezli Dermatology Department, Farhat Hached University Hospital of Sousse, Sousse, Tunisia *Correspondence: S. Mokni. E-mail: mokni.sana@gmail.com

Involvement of dermal microvascular basement membrane in senile purpura: quantitative immunohistochemical study

A. Lallas,* P.R. Chellini, M.G. Guimar~ aes, N. Cordeiro, Z. Apalla, C. Longo, E. Moscarella, R. Alfano, G. Argenziano Skin Cancer Unit, Arcispedale Santa Maria Nuova IRCCS, Reggio Emilia, Italy, Instituto de Dermatologia Professor Rubem David Azulay, Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil, First Department of Dermatology, Aristotle University, Thessaloniki, Greece, Department of Anesthesiology, Surgery and Emergency, Second University of Naples, Naples, Italy, Dermatology Unit, Second University of Naples, Naples, Italy *Correspondence: A. Lallas. E-mail: emlallas@gmail.com

Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel CDKN2A p.D84V (c.251A>T) mutation in melanoma-prone families from Italy.

Genetic susceptibility to primary cutaneous melanoma (PCM) may account for up to 12% of PCMs, presenting as the familial atypical mole/multiple melanoma syndrome (FAMMM), an autosomal dominant condition with incomplete penetrance and variable expressivity, characterized by PCM in at least two relatives and/or more than one PCMs in the same patient. To identify individuals at high genetic risk of PCM, from 1 January 2012 to 31 December 2015, we offered genetic counselling and molecular analysis of the two high-penetrance FAMMM susceptibility genes, cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), to 92 consecutive, unrelated patients with FAMMM. Age at diagnosis and number of PCMs were obtained from medical records; the number of PCMs and affected relatives were recorded for each family. The diagnostic work-up consisted of genetic counselling and cascade genetic testing in patients and further extension to relatives of those identified as mutation carriers. All exons and exon/intron boundaries of CDKN2A and CDK4 genes were screened by direct bidirectional sequencing. We identified CDKN2A mutations in 19 of the 92 unrelated patients (20.6%) and in 14 additional, clinically healthy relatives. Eleven of these latter subsequently underwent excision of dysplastic nevi, but none developed PCM during a median follow-up of 37.3 months. In three patients from unrelated families, the novel CDKN2A p.D84V (c.251A>T) mutation was observed, associated with PCM in each pedigree. Genetic screening of FAMMM patients and their relatives can contribute towards specific primary and secondary prevention programmes for individuals at high genetic risk of PCM. The novel CDKN2A p.D84V (c.251A>T) mutation adds to the known mutations associated with FAMMM.

Pompholyx of the hands after intravenous immunoglobulin therapy for clinically isolated syndrome: A paediatric case

Pompholyx is a common eruption of small vesicles on the palms, soles, and/or lateral aspects of the fingers. It has a multifactorial etiology, including genetic determinants, allergy to metals, and id reaction; rarely it is a drug-related side effect. We report a paediatric case of pompholyx of the hands related to the intravenous immunoglobulin (IVIG) therapy for Clinically Isolated Syndrome (CIS). A 10-year-old boy, received an IVIG therapy (Venital®, Kedrion Spa, Italy) at a dose of 400 mg/kg daily for five days. The fifth day of IVIG infusion, a symmetrical vesicular eruption appeared on the palms of the hands and on lateral aspects of the fingers. The lesions improved with application of topical steroids in few days. The mechanism of induction of pompholyx by IVIG therapy is unknown. A review of the Literature suggests the hypothesis that dyshidrotic eczematous reactions may be related not only to the type of IVIG, to the dose and the rates of infusion, but also to an allergic response to excipients and preservatives contained in the drug, probably elicited by an underlying neurological disease in some cases.

Monitoring chemotherapy-induced alopecia with trichoscopy

Chemotherapy‐induced alopecia (CIA) ranks among the psychologically most devastating effects of cancer treatment for oncological patients, with an overall incidence of 65%. Nowadays trichoscopy is largely employed in the diagnosis of alopecia, but no description of CIA trichoscopic pattern is present in literature.

Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.

Glomuvenous malformations (GVMs, OMIM 138000) are hamartomas presenting in childhood as multiple, bluish, soft papules and nodules that tend to grow slowly in size and number with age. They are caused by autosomal dominant mutations in glomulin (GLMN) gene; penetrance varies from 80% at 20 to about 100% at age 30 years. We report on the c.395–1G>C mutation of GLMN gene in two siblings showing variable penetrance.

La simulazione su manichino migliora l’abilità degli studenti di Medicina nell’auscultazione cardiaca? L’esperienza di Pavia

L’esame fisico e il punto di partenza di ogni diagnosi cardiologica, nonostante l’eccessiva specializzazione spesso conduca a trascurare le abilita cliniche e ad enfatizzare eccessivamente l’approccio strumentale alla diagnosi. La mancanza di tempo da parte dei docenti e dei tutor, la difficolta a reperire il paziente tipico con reperti adeguati all’insegnamento al letto del malato, il rispetto nei confronti del paziente e una scarsa stima dell’importanza delle abilita cliniche conducono tutti ad un progressivo impoverimento dell’insegnamento. Harvey© e un manichino simulatore basato sulla possibilita di valutare piu di 50 diagnosi cardiologiche introdotto presso l’Universita di Miami (Florida, USA). Uno dei vantaggi del simulatore Harvey© risiede nella possibilita di ascoltare, comparare e valutare suoni cardiaci realistici. Per testarne oggetivamente il potenziale didattico, si e valutata in 130 studenti del III anno di medicina (ossia all’inizio della loro esperienza clinica) la capacita di riconoscere 5 diverse diagnosi cardiologiche (difetto del setto interatriale, soggetto giovane normale, stenosi mitralica con rigurgito tricuspidalico, rigurgito mitralico e pericardite) tra 50 possibilita diagnostiche, prima e dopo 10 ore di addestramento con Harvey©. Nessuno di loro aveva precedente esperienza di auscultazione cardiaca simulata. Come atteso, le capacita diagnostiche sono risultate scarse nei principianti, che hanno riconosciuto correttamente solo l’11% dei reperti cardiaci proposti. Dopo l’addestramento guidato al simulatore, tali capacita sono nettamente migliorate (72%; p<0.001 vs test pre-simulazione). Questi dati dimostrano l’importanza dell’addestramento clinico finalizzato al miglioramento della capacita di auscultazione cardiaca nel nostro contesto accademico, suggerendo una rivisitazione del percorso di insegnamento in medicina. L’auscultazione cardiaca simulata dovrebbe essere considerata come l’anello mancante tra insegnamento formale ed insegnamento al letto del paziente dei suoni cardiaci.

Vitiligine e melanoma

La vitiligine e un’affezione caratterizzata dalla presenza di lesioni amelanotiche di forma ovalare o rotondeggiante aventi abitualmente margini netti, e interessa in egual misura il sesso maschile e quello femminile con un picco di incidenza tra la prima e la terza decade. La sua prevalenza e pari a circa l’1% nella popolazione generale. Tuttavia se si considera la popolazione costituita dai pazienti affetti da melanoma, tale prevalenza aumenta a circa il 2.8%. L’insorgenza di vitiligine puo precedere o seguire la diagnosi di melanoma e assume delle caratteristiche cliniche differenti a seconda dell’uno o dell’altro caso. La valutazione della sopravvivenza a cinque anni dalla diagnosi nei soggetti affetti da melanoma e da vitiligine ha consentito di osservare un aumento della sopravvivenza di un valore statisticamente significativo nella popolazione di soggetti affetti sia da vitiligine che da melanoma in stadio III e IV, rispetto ai pazienti affetti solo da melanoma. Questi dati preliminari suggeriscono l’importanza di condurre uno studio clinico retrospettivo per valutare il dato di associazione vitiligine e melanoma e un possibile ruolo prognostico di tale associazione.