Federica Derlino

Cutaneous blastic plasmacytoid dendritic cell neoplasm: successful palliative treatment with oral prednisone in an elderly patient.

no specific reactivity for epidermal proteins. These findings may mean that autoimmunity mediated by a monoclonal IgA-j antibody against an unknown epidermal antigen may exhibit an affinity that is not enough to be detected by ELISA or immunoblotting. Another possibility is that the unknown antigen may be modified during the molecular procedure, giving rise to negative results. Further investigations are needed to define the specificity and significance of these results.

Lichenoid cutaneous chronic GvHD following Blaschko lines

A 51-year-old man was diagnosed with promyelocytic acute leukemia and treated by induction therapy with idarubicin and transretinoic acid, followed by a consolidation with mitoxantrone. In 2008 he relapsed and received transretinoic acid and arsenic trioxide therapy; thereafter, he underwent allogeneic transplantation of peripheral blood stem cells (PBSCs) from a sibling donor. Eighteen months after PBSCs, the patient developed an asymptomatic unilateral eruption (Fig. 1a,b). At the clinical examination, confluent erythematous papules were observed in a whorled configuration following Blaschko lines, involving the whole left part of the trunk (Fig. 1c,d). At the time of the examination, the patient was in good health with a normal complete blood cell count, metabolic panel, and liver function test. His only medication was prednisone 5 mg every other day. A 4-mm punch biopsy was taken from the left flank for histopathological examination and revealed an interface dermatitis with a subepidermal, patchy, lymphocytic inflammatory infiltrate, vacuolar changes of the basal layer, melanophages, and scattered dyskeratotic/necrotic cells in the epidermis (Fig. 2a,b). A diagnosis of lichenoid chronic graft-vs-host disease (GvHD) following Blaschko lines was made, and the patient started treatment with topical steroids (prednicarbate) once daily for four weeks. The erythematous component of the papules healed, and the patient presented with post-inflammatory hyperpigmentation. No further lesions appeared after one year.

Secondary erythromelalgia: a tryptophan dietary supplement-induced case associated with elevated 5-hydroxyindoleacetic acid (5HIAA) urinary levels

Erythromelalgia (EM) is a primary or secondary debilitating condition characterized by the triad of burning pain, recurrent redness, and warmth of the extremities. Symptoms are exacerbated by exposure to heat, exercise, and gravity, and relieved by cooling and elevation. Primary EM is considered a sodium channelopathy caused by mutations of the SCN9A, the encoding gene of a voltage-gated sodium channel Nav1.7. Secondary EM can result from myeloproliferative and autoimmune disorders, paraneoplastic conditions, small fiber peripheral neuropathy, mercury poisoning, and medications including verapamil, bromocriptine, nicardipine, and ticlopidine.

Acral peeling skin syndrome: descrizione di una rara genodermatosi a trasmissione autosomica recessiva

L’Acral Peeling Skin Syndrome e una rara genodermatosi a trasmissione autosomica recessiva caratterizzata da un asintomatico clivaggio verificantesi o nello spessore dello strato corneo o tra lo strato corneo e lo strato granuloso. Il prevalente coinvolgimento delle sedi acrali (soprattutto mani e piedi) rende ragione del nome stesso della sindrome benche siano anche descritte in letteratura varianti generalizzate. Descriviamo il caso di un giovane paziente che presentava manifestazioni compatibili con tale rara genodermatosi.

Descrizione e studio di due pazienti con insolite ulcerazioni croniche agli arti inferiori

La necrobiosi lipoidica e una malattia granulomatosa degenerativa di origine ancora sconosciuta, caratterizzata da una frequente, ma non esclusiva, associazione con il diabete. La malattia, che si manifesta piu frequentemente nei giovani adulti, con particolare predilezione per il sesso femminile, si caratterizza clinicamente per la comparsa soprattutto agli arti inferiori di una placca eritemato-giallastra, dai margini ben definiti, di aspetto lucido, atrofico, attraversata da numerose teleangectasie e che puo talora andare incontro ad ulcerazione. L’evoluzione ulcerativa puo essere una complicanza della necrobiosi lipoidica e, solo eccezionalmente, manifestazione d’esordio. Descriviamo due casi di ulcerazione come manifestazione d’esordio di necrobiosi lipidica, analizzando, in riferimento alla letteratura, analogie e differenze e tracciando un possibile percorso diagnostico differenziale da seguire nell’inquadramento di tali lesioni.

Longitudinal Deep Fissure and Distal Onycholysis of the Right Thumb—Quiz Case

A74-year-oldwhitewomanpresentedwithanapproximately 1-year history of median longitudinal ridging of the right thumb that had evolved in a deep fissure along with distal onycholysis. She had previously been diagnosed as having onychomycosis and had been treated with topical and systemic antimycotic drugs, with no improvement. The medial part of the nail plate had progressively become thin and brittle, causing median longitudinal fissuring of the whole nail and isolating 2 lateral parts of normal nail plate (Figure 1). The nail bed, which was exposed by onychodystrophy, was yellowish red and had a few scales. The nail fold was not involved, and the hyponychium was not ulcerated and looked only slightly hyperkeratotic. The digital pulp was normal and painless. A punch biopsy specimen of the lesion was obtained, and a total excision of the nail apparatus was subsequently performed. The specimens were stained with hematoxylin-eosin (Figure 2) and HMB-45 (Figure 3). What is your diagnosis?

Algoritmo diagnostico nell’epidermolisi bollosa acquisita: ruolo degli anticorpi anti-collagene VII

L’epidermolisi bollosa acquisita (EBA) e una rara malattia bollosa acquisita, a coinvolgimento cutaneo e/o mucoso, clinicamente polimorfa, caratterizzata da un andamento cronico con comparsa di bolle sottoepidermiche che guariscono con formazione di lesioni cicatriziali e milia. La patogenesi e autoimmune, con presenza di anti-corpi circolanti diretti contro il collagene VII, principale costituente delle fibrille di ancoraggio della giunzione dermo-epidermica. La diagnosi differenziale con le altre malattie bollose sottoepidermiche e spesso ostacolata sia dal monomorfismo delle lesioni riscontrabili alla clinica, sia dalla scarsa sensibilita e specificita degli aspetti istopatologici ed immunopatologici attualmente in uso a fini diagnostici. Il presente lavoro considera l’utilita di un nuovo test ELISA per il dosaggio degli anticorpi anti-collagene VII circolanti nella finalita di effettuare una valutazione critica degli aspetti immunopatologici ed istopatologici attualmente in uso nel percorso diagnostico dell’EBA. Sono stati presi in esame 13 pazienti di difficile inquadramento diagnostico. Il nuovo test si e rivelato utile, in caso di positivita, per confermare la diagnosi di EBA e per valutarne gli aspetti istopatologici piu suggestivi. In caso di negativita, l’utilita del test si e esplicata consentendo un ricollocamento diagnostico ragionato.

Tumefazione orbito-temporale con enoftalmo e deformazione del volto: descrizione di un caso

La famiglia delle neurofibromatosi annovera differenti rare entita nosologiche, tra le quali, secondo la classificazione di Riccardi, si possono distinguere la neurofibromatosi di tipo 1 (NF-1) e la neurofibromatosi di tipo 2 (NF-2), aventi criteri diagnostici clinici codificati. Esistono tuttavia varianti cliniche che presentano un’espressivita della malattia e delle manifestazioni fenotipiche non facilmente inquadrabili in una delle due forme codificate, risultando caratterizzate da aspetti e comportamenti clinici piu sfumati o peculiari. Si descrive un paziente, giunto all’osservazione per la presenza di una tumefazione peri-orbitale ed orbitale risultata poi essere, istologicamente, un neurofibroma; attraverso la RMN si evidenziava un’estensione della neoplasia molto oltre l’aspetto visibile, fino ai piani profondi, coinvolgente tutta la zona circostante, avendo margini mal definiti. In base al dato clinico, istologico, e strumentale si poneva il sospetto diagnostico di neurofibromatosi, ascrivibile allo spettro delle varianti rare di NF-1; la revisione dei dati bibliografici ha confermato, in parte, l’ipotesi diagnostica, come viene descritto nella discussione.

Terapia topica con Imiquimod crema del sarcoma di Kaposi stadio in chiazza: studio di un caso

Kaposi’s sarcoma (KS) is an angioproliferative, chronic disease induced by HSV-8, a member of Gammaherpes viridae family. Cutaneous lesions of SK are usually red to purple macules/plaque and nodules that can ulcerate with blood flow and pain. Precocious diagnosis and treatment are important to prevent or minimizing more serious symptoms. We present a case-report of a 82 years old man affected by classic SK and other co-morbidity (diabetes, hypertension, B hepatitis). From 2005 he is in treatment for KS disease: he had surgical removal of multiple lesions (plaques and nodules) of his legs and arms. From 2008 nodular, acral lesions were treated with intralesional vinblastine (0.5 mg/ml), with complete or partial regression. In 2005 he also had a surgical removal of a squamous cell carcinoma of pre-auricular right region and in 2006 he had another surgical removal of a squamous cell carcinoma of his right ear. In 2007, actinic keratosis localized on right ear and face were treated with Imiquimod 5% cream 1 time per day for 5 days/week; because patches of KS lesion were present adjacent to them, we decided to treat all these lesions (KS and keratosis) with a progressive regression of every lesions within three months. Recent studies demonstrate that SK is responsive to intralesional, low-doses, INF-alpha weekly therapy in 70% of cases; because Imiquimod can induce epidermal release of INF-alpha, an anti-viral and anti-angiogenetic activity has been proven. In conclusion, Imiquimod could be a new therapeutical chance for KS lesions, patch stage, smaller than 1 cm.