Antoni Bennàssar

Ex vivo fluorescence confocal microscopy for fast evaluation of tumour margins during Mohs surgery

Ex vivo fluorescence confocal microscopy (FCM) enables real‐time imaging of skin morphology directly in freshly excised tissue. FCM displays wide field‐of‐view mosaics with cellular resolution, thus enabling a rapid bedside pathology. An application of interest is rapid detection of residual basal cell carcinoma (BCC) in skin excisions during Mohs surgery.

Management of tinea capitis in childhood.

Tinea capitis (TC) is a common dermatophyte infection affecting primarily prepubertal children. The causative pathogens belong to only two genera: Trichophyton and Microsporum. Although there is a great local variation in the epidemiology of TC worldwide, T. tonsurans is currently the most common cause of TC with M. canis second. Even though there is an emerging number of anthropophilic scalp infections, M. canis remains the predominant causative organism in many countries of the Mediterranean basin, the most important dermatophyte carriers being stray cats and dogs as well as pet puppies, kittens and rabbits. TC always requires systemic treatment because topical antifungal agents do not penetrate down to the deepest part of the hair follicle. Since the late 1950s, griseofulvin has been the gold standard for systemic therapy of TC. It is active against dermatophytes and has a long-term safety profile. The main disadvantage of griseofulvin is the long duration of treatment required which may lead to reduced compliance. The newer oral antifungal agents including terbinafine, itraconazole, ketokonazole, and fluconazole appear to have efficacy rates and potential adverse effects similar to those of griseofulvin in children with TC caused by Trichophyton species, while requiring a much shorter duration of treatment. They may, however, be more expensive.

Rapid Diagnosis of Two Facial Papules Using Ex Vivo Fluorescence Confocal Microscopy: Toward a Rapid Bedside Pathology

An application of interest is the rapid diagnosis of ambiguous lesions under dermoscopy located where in vivo reflectance confocal microscopy (RCM) can not be performed. We report two papules on the face referred for Mohs micrographic surgery (MMS) as basal cell carcinomas (BCCs). Noninvasive RCM diagnosis could not be performed because of the difficult location (nose tip and jaw). A shave biopsy was performed in both cases. The two samples underwent rapid diagnosis with FCM; in each case, we obtained a 10by 10-mm fluorescence confocal mosaic with high cellular morphologic resolution that enabled us to provide a precise diagnosis in less than 5 minutes. The present report represents a first step toward a rapid bedside pathology.

Multicentric reticulohistiocytosis with elevated cytokine serum levels

Multicentric reticulohistiocytosis (MRH) is an uncommon non‐Langerhans cell histiocytosis of unknown etiology. It is a multisystem disorder characterised by a papulonodular skin eruption, mainly in the extensor surfaces, and destructive polyarthritis. Histologically, either cutaneous lesions or the synovium show a dense dermal infiltrate of histiocytes and multinucleated giant cells with an eosinophilic granular material in the cytoplasm. In the immunohistochemical analysis these cells stain positively with monocyte/macrophage markers (CD68 and CD45), as well as with certain cytokines (tumor necrosis factor‐α, interleukin 1β and interleukin 6). Moreover, recent reports suggest an osteoclastic nature of the infiltrating cells, as they stain strongly with osteoclast tissue lytic markers including tartrate‐resistant acid phosphatase and cathepsin K. We report a case of MRH presenting with clinical features of dermatomyositis. Furthermore, the patient showed elevated cytokine serum levels that lowered after therapy.

Congenital atrichia and hypotrichosis

BackgroundAlopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician.Data sourcesAn initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder and may impact the mental and physical development of a child. Pathological hair loss rarely occurs in the first year of life; however, it may be a leading symptom of many congenital diseases.ResultsIn recent years, the clinical and microscopic features of hereditary hair shaft disorders have been characterized and classified. Furthermore, significant progress has been made in our knowledge of genes that control the normal development and differentiation of hair follicles, and thus the research is to define and classify the hair disorders within a genetic basis.ConclusionsIn this article we discuss several types of genotrichosis and provide a practical classification based on their clinical features.

Dermoscopy structures as predictors of sentinel lymph node positivity in cutaneous melanoma.

Histological features such as Breslow thickness, ulceration and mitosis are the main criteria to guide sentinel lymph node biopsy (SLNB) in melanoma. Dermoscopy may add complementary information to these criteria.

Desmoplastic melanoma on the nose: electrochemotherapy as an alternative treatment to local advanced disease

Desmoplastic malignant melanoma (DMM) is a rare and usually misdiagnosed type of melanoma. Delayed detection at complicated anatomical locations can lead to the necessity of alternative therapies.

Surgical treatment of primary melanoma

The incidence of primary cutaneous malignant melanoma (MM) has been rapidly growing during the last decades with only a small rise in overall mortality. MM accounts for most of the deaths from skin malignancies due to its metastatic potential. However, early detection and wide surgical excision with histologically negative margins are nearly always curative for patients without micrometastatic disease. Although nonsurgical treatments have been increasingly used in recent years, surgery with standardized margins remains the only curative treatment modality for primary cutaneous MM. There are some special locations (e.g., the ear, nose, eyelid, genitalia, hand, or foot) where standardized wide surgery can not be completely achieved either for lack of tissue, ill‐defined lesions, or cosmetic and functional reasons. Thus, skin surgeons dealing with these MMs should be well versed in new technologies such as confocal microscopy for the presurgical assessment of ill‐defined lesions or the promising electrochemotherapy for nonsurgical tumors. Furthermore, a multidisciplinary melanoma team and a well‐trained and experienced surgeon are mandatory to deal with these “out‐of‐the‐guidelines” melanomas.

Annular Plaques in the Skin Folds: 4 Cases of lichen Planus Pigmentosus-inversus

We report 4 patients with relatively asymptomatic, annular brownish plaques arising in the skin creases.The lesions had remained stable for months despite many topical treatments. Histological examination revealed an atrophic epidermis with a dermal lichenoid inflammatory infiltrate showing marked pigmentary incontinence.These clinical and pathological features were consistent with lichen planus pigmentosus-inversus,a rare, recently described variant of lichen planus, with only 10 cases reported to date. It has been suggested that he intensity and speed of onset of the inflammatory response could be modulated by keratinocyte surface markers, which could also determine the typical morphology of the lesions of this disease.

Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.

Background: Xeroderma pigmentosum (XP) is a genodermatosis caused by abnormal DNA repair. XP complementation group C (XPC) is the most frequent type in Mediterranean countries. We describe a case with a novel mutation in the XPC gene. Case: A healthy Caucasian male patient was diagnosed with multiple primary melanomas. Digital follow-up and molecular studies were carried out. Results: During digital follow-up 8 more additional melanomas were diagnosed. Molecular studies did not identify mutations in CDKN2A, CDK4 or MITF genes. Two heterozygous mutations in the XPC gene were detected: c.2287delC (p.Leu763Cysfs*4) frameshift and c.2212A>G (p.Thr738Ala) missense mutations. Conclusion: The p.Thr738Ala missense mutation has not been previously described. Missense mutations in the XPC gene may allow partial functionality that could explain this unusual late onset XP. Atypical clinical presentation of XPC could be misdiagnosed when genetic aberrations allow partial DNA repair capacity.