Dermoscopy of haemosiderotic/aneurysmal dermatofibroma: A morphological study of 110 cases.

BACKGROUND: Haemosiderotic and aneurysmal dermatofibromas are uncommon and frequently misdiagnosed lesions, which can be considered as different histopathological stages of the same tumour. A dermoscopic diagnosis testing accuracy has not been performed for these tumours to date. OBJECTIVES: To determine the diagnostic significance of dermoscopic structures and patterns associated with haemosiderotic/ aneurysmal dermatofibromas in a large series. METHODS: Dermoscopic images of histopathologically proven cases of 110 haemosiderotic/ aneurysmal dermatofibromas and 501 other tumours were collected. The frequency, sensitivity, specificity, positive predictive value and negative predictive value of the dermoscopic structures and patterns associated with these lesions were calculated. RESULTS: Haemosiderotic/ aneurysmal dermatofibromas are mostly symmetric lesions (86.5%), and a prominent homogeneous area was present in 100% of them. The presence of vascular structures was very common (86.4%), and dotted vessels were predominant (58.2%). Shiny white structures were seen in 85.5% of lesions, while a peripheral delicate pigment network was present in 69.1%. The most significant pattern was the one composed of a prominent homogeneous area and peripheral delicate pigment network, which showed a specificity of 100% with a relatively good sensitivity (69.1%). All the patterns containing a peripheral delicate pigment network showed very good specificities, positive predictive values and negative predictive values. Those patterns without a peripheral delicate pigment network showed the highest sensitivities, but they showed a significant overlap with other tumours, mainly with melanoma. CONCLUSIONS: Dermoscopy is helpful in improving the diagnostic accuracy of haemosiderotic/ aneurysmal dermatofibromas. However, there is a considerable dermoscopic overlap between these tumours and melanoma, specifically when the peripheral delicate pigment network is absent.

The Usefulness of Dermoscopy for the Recognition of Malignant Collision Tumors.

BACKGROUND: Preoperative diagnosis of malignant collision tumors (MCT) is extremely difficult. The value of dermoscopy to improve the correct detection of these tumors has not been previously studied. This study aims to evaluate the diagnostic accuracy of MCT with and without dermoscopy and to describe the dermoscopic features of a large series of MCT. METHODS: Dermoscopic images of 161 MCT were evaluated. Clinical and dermoscopic images of histopathologically proven MCT intermingled with other tumors were randomly presented to clinicians with different levels of experience, blinded to the diagnosis and objective of the study. The clinical and dermoscopic diagnostic accuracies were measured separately. RESULTS: A total of 161 histopathologically proven cases of MCT were collected. The most frequent MCT was basal cell carcinoma-seborrheic keratosis collision tumor (CT; 37.9%), followed by basal cell carcinoma-melanocytic nevus CT (19.9%), and melanoma-seborrheic keratosis CT (6.8%). Diagnostic accuracy among experts on dermoscopy was 71.4%. The study included 119 participants. The percentage of correct diagnoses was 8% by naked eye examination and 36.4% by dermoscopy (p < 0.001). The presence of the malignant component in the cases of MCT was not recognizable in 19.1% of cases by naked eye examination and in 11.8% of cases by dermoscopy (p < 0.001). CONCLUSIONS: The diagnosis of MCT can be assisted and clarified by dermoscopy. However, many of these lesions manifest complex morphologies and continue to be challenging, even for experts on dermoscopy. Atypical, uncertain, or non-classifiable lesions still need a complete excision for the final diagnosis.

Intralesional photodynamic therapy in hidradenitis suppurativa: Getting closer to the target.

BACKGROUND: The successful treatment of hidradenitis suppurativa (HS) with intralesional photodynamic therapy (IL-PDT) has been previously reported in some case series published a few years ago. We present additional data and patient outcome for this form of PDT. METHODS: This is an observational retrospective study including all patients diagnosed with HS and treated with IL-PDT in the Hospital Universitari Son Espases from February 2019 to February 2020. Under local or general anesthesia, 5-aminolevulinic acid (5ALA) in gel 2 % or solution 1 % was introduced in the lesion. After two hours, the lesion was intralesionally irradiated (1.4 W, fluence 168 J/cm2) with the tip of a 0.4-mm thick optical fiber connected to a continuous 630-nm diode laser. The main outcome variable was the result (remission, improvement or no change) for each lesion 3 months after the therapy. The result at 6 months and the side effects were secondary outcomes. A multivariate analysis was carried out in order to obtain adjusted odds ratios for no change vs improvement or remission at 3 months for significant variables. RESULTS: A total of 117 lesions (28 nodules and 89 fistulae) were treated in 42 patients. At 3 months, 26 lesions (22.2 %) had resolved, 73 (62.4 %) had improved in size or symptoms, and 18 (15.4 %) experienced no change. The most frequent side effects were skin burns (53 lesions, 45.3 %), and abscess formation (8 lesions, 6.8 %). In the multivariate analysis, significant variables for no benefit were: a higher International Hidradenitis Suppurativa (IHS4) score, active smoking and gluteal and inguinal location. CONCLUSIONS: Although our results did not present the level of remission of the previous studies, IL-PDT was useful in most of our patients. Early interventions in patients with lower inflammatory burden were the most valuable.

Caso Clínico: Quiste Óseo Aneurismático de Peroné Distal, Tratamiento con Aloinjerto Estructural / Case Report: Distal Fibula Aneurysmal Bone Cyst, Treatment with Structural Allograft

INTRODUCCIÓN: El quiste óseo aneurismático es una neoplasia benigna que aparece con mayor frecuencia en la segunda década de vida. Clínicamente se presenta como una masa que produce dolor y deformidad de la extremidad afectada; radiológicamente se caracteriza por lesiones líticas con tabicaciones internas y abombamiento de la cortical. Se presenta un caso donde se realizó un aloinjerto estructural para el tratamiento de esta patología. CASO CLÍNICO: Paciente de sexo masculino, de 18 años de edad; con historia de 5 meses de evolución de dolor e impotencia funcional de extremidad inferior derecha; al examen físico se evidenció masa de 15 x 6 cm en tobillo derecho. La radiografía simple demostró una lesión lítica de tercio distal de peroné con adelgazamiento e insuflación de la cortical. El examen histopatológico fue positivo para células gigantes de tipo osteoclasto, cambios simplásticos, estroma miofibroblástico y extravasación eritrocitaria; datos compatibles con quiste óseo aneurismático. EVOLUCIÓN: Se realizó la resección en bloque de la masa tumoral del peroné, para la reconstrucción se utilizó un aloinjerto estructural más estabilización con placa de compresión dinámica y tornillo transindesmal; se realizó además una reconstrucción ligamentaria utilizando la técnica de Watson Jones. El paciente tuvo una evolución favorable, a los 16 meses del procedimiento se observó consolidación completa, además de una función articular conservada; no se evidenció recidiva en los 5 años posteriores de control. CONCLUSIÓN: El quiste óseo aneurismático es una patología benigna que siendo tratada en etapas iniciales, conlleva un mejor pronóstico y requiere de la realización de procedimientos quirúrgicos menos complejos. En pacientes con tumores de gran tamaño no es posible la realización de tratamientos convencionales; siendo la resección en bloque más la colocación de aloinjerto y estabilización ligamentaria, una alternativa terapéutica válida que permita preservar la extremidad.(ua)

BACKGROUND: Aneurysmal bone cyst is a benign neoplasm that presents more frequently in the second decade of life. Clinically It manifests as a mass that causes pain and deformity of the affected limb; radiologically, it is characterized by lytic lesions with internal septations and bulging of the cortex. A case is presented where a structural allograft was performed for the treatment of this pathology. CASE REPORT: 18 year-old male patient, with 5 month history of pain and functional impotence of right lower extremity; physical examination revealed a 15 x 6 cm mass in right ankle. X-ray showed a lytic lesion in the distal third of the fibula, with thinning an insufflation of bone cortex. The histopathological report was positive for giant cells (osteoclast-like cells), symplastic changes, myofibroblastic stroma and erythrocyte extravasation; data compatible with aneurysmal bone cyst. EVOLUTION: An en-bloc resection of the fibular tumor was performed, for the reconstruction a structural allograft plus stabilization with dynamic compression plate and transindesmal screw was used; a ligament reconstruction was also performed using the Watson Jones technique. The patient had a favorable evolution, at 16 months complete consolidation in addition to a preserved joint function was observed; there was no recurrence in the 5 years after control. CONCLUSION: The aneurysmal bone cyst is a benign condition that if treated in initial stages, has a better prognosis and requires less complex surgical procedures. In patients with large tumors, conventional treatment is not possible; en bloc resection plus allograft placement and ligament stabilization, is a valid therapeutic alternative to save the limb.(au)

Caso Clínico: Uso de Aloinjerto Óseo Estructural en Tumor de Células Gigantes de Fémur / Case Report: Use Of Structural Bone Allograft In Giant Cell Tumor Of The Femur

INTRODUCCIÓN: El tumor de células gigantes óseo es muy raro y controversial en su comportamiento por lo que es predecible. El diagnóstico requiere biopsia previa antes de proceder al tratamiento.CASO CLÍNICO: Paciente masculino de 43 años de edad, mestizo, sin antecedentes personales o familiares de relevancia. Acude a consulta externa de ortopedia oncológica por presentar masa dura y dolorosa con aumento gradual de tamaño a nivel de rodilla derecha, deformidad, limitación funcional y crepitación. EVOLUCIÓN: El paciente fue sometido a biopsia de lesión a nivel de fémur distal derecho con reporte de anatomía patológica de tumor de células gigantes. Se realizó una resección ósea a nivel de tumor y tratamiento mediante colocación de aloinjerto estructural óseo, con un seguimiento de 2 años y obteniendo como resultado funcional una puntuación de 14/15 según la escala de Makin, se evidencio además osteointegración del injerto al hueso autógeno a los 15 meses. No presento infección, ni reabsorción del injerto, ni fatiga del material.CONCLUSIÓN: La cirugía de conservación de la extremidad utilizando los aloinjertos estructurales es una técnica favorable con funcionalidad y osteointegración adecuada, aumentando las expectativas y calidad de vida. Evitando amputaciones, artrodesis o prótesis tumorales cuyo costo beneficio con los años subsecuentes terminan siendo altos y deteriorando al paciente.

BACKGROUND: Bone giant cell tumor (GCT) is one of the least frequent, most controversial and least predictable tumors in its behavior. We present a case of GCT in the lower limb, which implied the distal femur. The diagnosis required a previous biopsy before proceeding with its en bloc resection, and treatment based on bone allograft. CASE REPORT: Male patient of 43 years of age, mestizo, with no relevant personal or family history. He went to the oncology orthopedics outpatient clinic for presenting a hard and painful mass with gradual increase in size at the level of the right knee, deformity, functional limitation and crepitus in that region, which is why he attends his assessment. EVOLUTION:The patient underwent a lesion biopsy at the level of the distal femur with a pathological anatomy report of giant cell tumor. Bone resection was performed at the tumor level and treatment was performed by allografting the bone structural allograft. A 2-year follow-up was performed and a score of 14/15 according to the Makin scale was obtained as functional results. Osteointegration of the graft to autogenous bone was also evidenced. Excellently at 15 months. We did not find infection, graft resorption or fatigue of the material. CONCLUSIONS: Limb preservation surgery represented by structural allografts is a favorable technique with adequate functionality and osteoingration, increasing the life expectancy of our patients and future revision possibilities. Avoiding amputations, arthrodesis or tumor prosthesis whose cost benefit with the subsequent years end up being high and deteriorating the quality of life in the patient.

Dermoscopy of arteriovenous tumour: A morphological study of 39 cases.

BACKGROUND/OBJECTIVES: Arteriovenous tumour is a distinct, benign, acquired vascular lesion that can be misdiagnosed. METHODS: A dermoscopic examination of 39 cases of arteriovenous tumours collected from four Spanish hospitals was performed to evaluate specific dermoscopic criteria and patterns. RESULTS: The most common structures found were vascular, 95% of cases (37/39); 90% (35/39) were non-arborising telangiectasia. All the lesions except two (95%) had a homogeneous pigmentation background that was red in 30 cases (77%), bluish-red in three (8%), brown in two (5%) and blue or multicoloured in one case each. Lacunae were seen in only three cases (8%). Non-arborising telangiectasia on a reddish background was identified in 72% of cases. CONCLUSIONS: Dermoscopy is helpful in improving the diagnosis of arteriovenous tumours and allows the observer to differentiate them from other cutaneous lesions such as other vascular tumours, basal cell carcinomas and melanomas.

Dermoscopy of lymphangioma circumscriptum: A morphological study of 45 cases.

BACKGROUND/OBJECTIVES: The dermoscopy of lymphangioma circumscriptum, also known as superficial lymphatic malformation, remains to be clarified. METHODS: Digital dermoscopic images of 45 histopathologically confirmed cases of lymphangioma circumscriptum collected from nine hospitals in Spain, Italy and Turkey were evaluated for the presence of dermoscopic structures and patterns. RESULTS: Our study shows that the most common structure found in lymphangioma circumscriptum was the presence of lacunae (89% of cases). The latter were red or dark-coloured in 18 cases (45%), yellowish or whitish in 14 cases (35%) and multicoloured in eight cases (20%). The second most common dermoscopic structure was the presence of vascular structures, which were found in 82% of cases, followed by white lines (47%), the hypopyon sign or two-tone lacunae (42%) and scales (7%). CONCLUSIONS: Dermoscopy is useful in improving the diagnosis of lymphangioma circumscriptum with characteristic structures and patterns and could assist in elucidating the presence of blood in lymphatic channels.

Dermoscopy of Nodular Hidradenoma, a Great Masquerader: A Morphological Study of 28 Cases.

BACKGROUND: Nodular hidradenoma is an uncommon, benign, adnexal neoplasm of apocrine origin which is a clinical simulator of other tumours. OBJECTIVE: The aim of this study was to evaluate the morphological findings of a large series of nodular hidradenomas under dermoscopic observation. METHODS: Dermoscopic examination of 28 cases of nodular hidradenomas was performed to evaluate specific dermoscopic criteria and patterns. RESULTS: The most frequently occurring dermoscopic features were: (1) in 96.4% of cases, a homogeneous area that covered the lesion partially or totally, the colour of which was pinkish in 46.4% of cases, bluish in 28.6%, red-blue in 14.3%, and brownish in 10.7%; (2) white structures were found in 89.3% of cases; (3) in 82.1% of cases, vascular structures were also observed, especially arborising telangiectasias (39.3%) and polymorphous atypical vessels (28.6%). CONCLUSION: Nodular hidradenomas represent a dermoscopic pitfall, being difficult to differentiate clinically and dermoscopically from basal cell carcinomas and melanomas.

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

IMPORTANCE: The main high-penetrance melanoma susceptibility gene is CDKN2A, encoding p16INK4A and p14ARF. The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma. To date, the prevalence of MITF p.E318K and its clinical and phenotypical implications has not been previously assessed in a single cohort of Spanish patients with melanoma or in p16INK4A mutation carriers. OBJECTIVES: To evaluate the prevalence of MITF p.E318K in Spanish patients with melanoma and assess the association with clinical and phenotypic features. DESIGN, SETTING, AND PARTICIPANTS: A hospital-based, case-control study was conducted at the Melanoma Unit of Hospital Clinic of Barcelona, with MITF p.E318K genotyped in all patients using TaqMan probes. We included 531 patients: 271 patients with multiple primary melanoma (MPM) without mutations affecting p16INK4A (wild-type p16INK4A); 191 probands from melanoma-prone families with a single melanoma diagnosis and without mutations affecting p16INK4A, and 69 probands from different families carrying CDKN2A mutations affecting p16INK4A. A population-based series of 499 age- and sex-matched cancer-free individuals from the Spanish National Bank of DNA were included as controls. Patients were recruited between January 1, 1992, and June 30, 2014; data analysis was conducted from September 1 to November 30, 2014. MAIN OUTCOMES AND MEASURES: The genetic results of the MITF p.E318K variant were correlated with clinical and phenotypic features. RESULTS: Among the 531 patients, the prevalence of the MITF p.E318K variant was calculated among the different subsets of patients included and was 1.9% (9 of 462) in all melanoma patients with wild-type p16INK4A, 2.6% (7 of 271) in those with MPM, and 2.9% (2 of 69) in the probands of families with p16INK4A mutations. With results reported as odds ratio (95% CI), the MITF p.E318K was associated with an increased melanoma risk (3.3 [1.43-7.43]; P < .01), especially in MPM (4.5 [1.83-11.01]; P < .01) and high nevi count (>200 nevi) (8.4 [2.14-33.19]; P < .01). Two fast-growing melanomas were detected among 2 MITF p.E318K carriers during dermatologic digital follow-up. CONCLUSIONS AND RELEVANCE: In addition to melanoma risk, MITF p.E318K is associated with a high nevi count and could play a role in fast-growing melanomas. Testing for MITF p.E318K should not exclude patients with known mutations in p16INK4A. Strict dermatologic surveillance, periodic self-examination, and renal cell carcinoma surveillance should be encouraged in this context.

Dermoscopy of Targetoid Hemosiderotic Hemangioma: A Morphological Study of 35 Cases.

BACKGROUND: Targetoid hemosiderotic hemangioma is an uncommon, vascular, benign solitary lesion of lymphatic origin that can be misdiagnosed as other tumors including melanomas. OBJECTIVES: To evaluate the dermoscopic features of a large series of targetoid hemosiderotic hemangiomas. METHODS: Digital dermoscopic images of 35 histopathologically confirmed cases of targetoid hemosiderotic hemangiomas collected from 7 hospitals in Spain and Italy were evaluated for the presence of dermoscopic structures and patterns. RESULTS: The results of our study reveal that the presence of central red and dark lacunae and a peripheral circular reddish-violaceous homogeneous area is the most common dermoscopic pattern in targetoid hemosiderotic hemangioma (71.4%). The targetoid hemosiderotic hemangiomas of our study were correctly diagnosed in 77% of cases. CONCLUSION: Dermoscopy is helpful in improving the diagnosis of targetoid hemosiderotic hemangioma. However, attention must be paid to those cases that dermoscopically may show nontargetoid patterns, which often mimic other lesions, including melanoma.

Tissue inhibitor of metalloproteinases-4. The road less traveled.

Tissue inhibitors of metalloproteinases (TIMPs) regulate diverse processes, including extracellular matrix (ECM) remodeling, and growth factors and their receptors' activities through the inhibition of matrix metalloproteinases (MMPs). Recent evidence has shown that this family of four members (TIMP-1 to TIMP-4) can also control other important processes, such as proliferation and apoptosis, by a mechanism independent of their MMP inhibitory actions. Of these inhibitors, the most recently identified and least studied is TIMP-4. Initially cloned in human and, later, in mouse, TIMP-4 expression is restricted to heart, kidney, pancreas, colon, testes, brain and adipose tissue. This restricted expression suggests specific and different physiological functions. The present review summarizes the information available for this protein and also provides a putative structural model in order to propose potential relevant directions toward solving its function and role in diseases such as cancer.