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Purpose: Conventional ophthalmic ultrasonography is performed using 10-megahertz (MHz) transducers. Our aim was to explore the use of higher frequency ultrasound to provide improved resolution of the posterior pole., Design: Prospective case series., Participants: One normal subject and 5 subjects with pathologies affecting the posterior coats, including nevii, small melanomas, and macular hole., Methods: We modeled the frequency-dependent attenuation of ultrasound across the eye to develop an understanding of the range of frequencies that might be practically applied for imaging of the posterior pole. We compared images of the posterior coats made at 10, 15, and 20 MHz, and 20-MHz ultrasound images of pathologies with 10-MHz ultrasound and optical coherence tomography (OCT)., Main Outcome Measures: Ability to resolve normal and pathologic structures affecting posterior coats of the eye., Results: Modeling showed that frequencies of 20 to 25 MHz might be used for posterior pole imaging. Twenty-megahertz images allowed differentiation of the retina, choroid, and sclera. In addition, at 20 MHz the retina showed banding patterns suggesting an internal structure comparable in many respects to that seen in OCT and histology. Images of ocular pathology provided much improved detail relative to 10-MHz images and deeper penetration than OCT., Conclusions: Twenty-megahertz ultrasound can be practically employed for imaging of the posterior pole of the eye, providing a 2-fold improvement in resolution relative to conventional 10-MHz instruments. Although not providing the resolution of OCT, ultrasound can be used in the presence of optical opacities and allows evaluation of deeper tissue structures.

Purpose: To report the use of ultrasound biomicroscopy in the clinical diagnosis and management of pigmented conjunctival cystic nevi., Method: Two patients, aged 11 and 18 years, with rapidly growing raised conjunctival melanocytic lesions suspected to be inflamed juvenile conjunctival nevus underwent ultrasound biomicroscopic and histopathologic examinations., Results: Ultrasound biomicroscopic examination of the lesions revealed multiple areas of cystic tissue, which is compatible with pathologic finding of compound nevus with epithelial inclusion cysts formation. Furthermore, clear interface was found between the mass and the underlying sclera., Conclusion: Pigmented conjunctival nevi may obscure cysts under slit-lamp examination. Ultrasound biomicroscopy is a useful diagnostic adjunct to distinguish cysts in conjunctival lesions. Additionally, this technique may be helpful in delineating the extent of lesions prior to excision biopsy.

We aimed to evaluate high-frequency sonography (HFS) coupled with color Doppler in the management of pigmented skin lesions (PSL). HFS examination was performed in 111 patients with 130 PSL. A color Doppler study was conducted in 107 lesions, to assess intralesional vascularization. Imaging findings were compared with histologic diagnosis. In the case of melanoma, sonographic and histologic maximum thickness measurements were compared. HFS showed 114 of the 130 lesions. Among the detected lesions, HFS alone provided 100% sensitivity and 100% specificity in the distinction of melanoma/nevi from other lesions, and 100% sensitivity and 32% specificity in the distinction of melanomas from nonmelanoma lesions. Sonographic and histologic measurement of melanoma thickness strongly correlated (r > 0.96, p < 0.001). Color Doppler detection of intralesional vessels had a 100% specificity and 34% sensitivity in the distinction of melanomas from other PSL. HFS coupled with color Doppler is a simple, reliable tool for PSL management.

Malignant transformation of optic disc melanocytoma is an uncommon feature, although in the past a few cases have been reported. Though our case, a healthy 30-year-old female, presented with all clinical features of melanocytoma, the triad of moderate visual loss, elevation of the lesion of 5.2 mm and an atypical ultrasonic picture could be an indication of malignant change at presentation. In the event of a moderate visual loss, long-term follow-up with serial fundus photographs and ultrasonic measurements is necessary for further management., (Copyright 2002 S. Karger AG, Basel)

High frequency sonography has been shown to be a useful tool in the preoperative staging of malignant melanoma. In the present study sonometric and histometric data concerning tumour thickness were compared, using appropriate statistical methods, in order to assess the accuracy of ultrasonography. From December 1997 all pigmented lesions suspected of being melanoma were preoperatively assessed by a 20 MHz ultrasound B scan. The results of these ultrasound examinations were compared with histometric data. Pearson's correlation coefficient and absolute and relative differences were used for statistical analysis. Of the 261 examined lesions, 193 were malignant melanoma. A high correlation between sonometry and histometry was computed (r = 0.95), with an absolute difference of 0.32 +/- 0.03 mm (mean +/- SEM) and a mean relative difference of 27.2% (95% confidence interval 23-31.4%). The highest correlation was found in melanoma > or = 1.51 mm thick and the lowest correlation in melanoma < or = 0.75 mm. In conclusion, the high accuracy of this technique in the preoperative staging of malignant melanoma would offer a basis for defining the surgical margins of > or = 0.76 mm thick lesions. The limited accuracy of sonometry in the preoperative staging of thin melanoma < or = 0.75 mm has emerged by applying adequate statistical methods.

A juxtapapillary choroidal melanocytoma that was clinically confused with a choroidal melanoma is described. The clinical examination of a 40-year-old female patient included ultrasonography, fluorescein, and indocyanine green angiography. Histopathologic and immunohistochemical study of the enucleated eye resulted in the identification of a markedly pigmented, 3.8 mm elevated choroidal melanocytic tumor observed nasally to the disk. A-scan ultrasonography showed a high initial spike with a low to medium internal reflectivity with decreasing amplitude. On fluorescein angiography, the tumor was surrounded by a rim of retinal pigment epithelium depigmentation with a well-defined comet-tail. The lesion was hypofluorescent in the early phases of the indocyanine green angiogram, but from the late venous phase appeared ill-defined hyperfluorescence. Histopathologic study revealed a juxtapapillary choroidal melanocytoma The pigmented tumor cells stained positive for HMB45 and vimentin but negative for S100, GFAP, NSE, and MNF116. No tumor cells stained positive for the proliferation marker Ki67. These findings conclude that choroidal melanocytoma may mimick choroidal melanoma. Abnormalities on fluorescein angiography may be a clinical hint to suspect a pigmented tumor different from a choroidal melanoma.

Fetal tumors are rare and can be difficult to diagnose in utero. This report describes one case of an extrarenal rhabdoid tumor and one case of a giant congenital melanocytic nevus. Both presented with moderate polyhydramnios and were prenatally detected at 31 weeks of gestation with two-dimensional ultrasound. The application of the surface mode of three-dimensional ultrasound improved the visualization of these tumors especially for the parents and the multidisciplinary team. Three-dimensional sonography proved to be a valuable addition to the prenatal armamentarium for the evaluation of these fetal tumors although it is not mandatory for their assessment and clinical management.

Purpose: Diagnosis of pigmented skin tumors is often difficult. The aim of the present study is to evaluate high frequency ultrasound and Doppler ultrasound in the localization and the characterization of these tumors., Material and Methods: One hundred and seventy six pigmented skin tumors including melanocytic and non melanocytic, benign and malignant lesions have been examined before resection using high frequency ultrasound (20MHz probe) and Doppler ultrasound (13MHz probe-Doppler frequency: 7MHz). Imaging data have been correlated with histological data, available in all cases., Results: Tumors seen at ultrasound were hypoechoic lesions, some of which, particularly malignant melanocytic tumors were vascularized. Precise ultrasonographic location of the tumor was correlated to its histological location: epidermis for purely epidermal proliferations (seborrheic keratoses), superficial dermis for dermal proliferations originating from epidermis (benign dermal nevi, melanomas during vertical growth phase, basal cell carcinomas), middle and deep dermis for dermal proliferations originating from dermis (fibrous histiocytomas, angiomas)., Conclusion: Ultrasound may help in assessing positive and differential diagnosis of pigmented skin tumors as it precises, before histological examination, the exact location of the lesion within the different skin layers and its origin. As far as malignant melanocytic tumors are concerned, high frequency ultrasound and Doppler ultrasound appear promising in diagnosis algorithm and pronosic of these lesions.

A 17-week-old boy with a giant congenital melanocytic nevus (GCMN) of the left lower extremity was noted to have a reduction in circumference of the left lower extremity relative to the contralateral side. The skin overlying the GCMN was persistently warm when compared with the surrounding and contralateral skin. Comparative plain radiography, ultrasonography, and magnetic resonance imaging showed fat hypoplasia of the left lower extremity, with bone and muscle appearing unaffected. The possible role of cytokines produced by the nevus in fat hypoplasia in GCMN is discussed.

Background: There are potential clinical benefits if non-invasive methods can be used to diagnose or exclude melanoma., Objectives: We investigated high-resolution ultrasound (HRU) as a potential non-invasive diagnostic aid for pigmented skin lesions., Methods: Using a 20-MHz ultrasound B-scan imaging system interfaced to a computer, we assessed acoustic shadowing and entry echo line enhancement (EEE) for 29 basal cell papillomas (BCPs) and 25 melanomas. Acoustic shadowing was estimated by the dermal echogenicity ratio (DER), comparing mean echogenicity below the lesion with that of adjacent dermis. Histological features were scored independently., Results: DER < 3 correctly distinguished melanoma from BCP with 100% sensitivity and 79% specificity. Specificity increased to 93% if the presence of EEE was included as a discriminator. Shadowing correlated most significantly with histological extent of hyperkeratosis (P < 0.0001). Consequently, this method falsely identified non-keratotic acanthotic BCP (n = 3) as melanoma. Highly significant differences between benign naevi (n = 15) and melanomas (n = 24) were found. The SD of retrolesional echogenicity was higher for naevi than melanomas (P < 0.0001), but such an analysis was poorly specific for the diagnosis of melanoma (30%)., Conclusions: Overall, HRU has considerable potential as a high-performance screening tool to assist in the discrimination between BCP, but not benign naevi, and melanoma. In particular, it may be possible to exclude melanoma with 100% certainty in the differentiation of BCP from melanoma.

Purpose: Eleven dermatology clinics from all over Germany took part in our multicenter prospective study with the aim of evaluating 20 MHz sonography in the preoperative diagnosis of malignant melanomas and other pigmented skin tumours. It was to be assessed how effective sonographic measurement of thickness would compare to histology and the clinical palpation of tumour thickness and also the significance of differential diagnosis in sonography of malignant melanomas., Method: The prospective multicenter study proceed as follows. To the end of August 1997 264 patients with a primary malignant melanoma and 417 patients with benign skin tumours were examined via 20 MHz sonography. Two different examiners estimated the clinical thickness of the tumour by palpation. The tumour was then excised and examined for postoperative correlation with the histology sections., Results: The final results showed good correlation between the histological and sonographic estimation of tumour thickness (r = 0.97). Estimation of tumour thickness by palpation showed no correlation with the histology (r = 0.59). Most of the benign (44%) and malignant tumours (38.7%) were spindle shaped. There was no significant difference between the benign and malignant tumour groups in relation to the sonographic presented shapes or echo signs. No different diagnosis could be made., Conclusion: The technique of high frequency sonography in relation to preoperative diagnosis of malignant melanomas has high priority. In contrast to clinical estimation of tumour thickness, sonography provided a good correlation to histology. The effectiveness of sonography with regard to the valence of the skin tumours is limited and there is no possibility of differentiating between malignant and benign tumours from the morphological face value. Hence, there is a demand for developing a 150 MHz apparatus which will be able to supply evidence regarding the valence of skin tumours.

We report on a girl with a congenital pigmented hairy nevus of the scalp, epidermal nevi of the right temple, and localized cranial defects. We have not found other reported cases of giant pigmented hairy nevus of the scalp occurring with absence of underlying cranial bone. We speculate that the localized cranial defects are undergrowth anomalies representative of a paracrinopathy from the overlying nevus or simultaneous bone/skin dysplasia, the former having been resorbed. In the absence of a familial history of epidermal nevi and/or seizures, our patient represents a sporadic case, perhaps a somatic mutation.

Dermatoscopy and high frequency sonography have recently been combined to increase diagnostic preoperative accuracy in the treatment of pigmented skin lesions. In this monocentric study 80 patients with pigmented skin lesions were evaluated clinically, by dermatoscopy, and 20 MHz-sonography followed by dermatohistopathological evaluation; 39 malignant melanomas, 37 common nevi, 3 dysplastic nevi, and 1 nevus Spitz were diagnosed histologically. In 72 of the 80 cases (91.3%) dermatoscopical diagnoses were confirmed by histopathology, compared to only 79% correct clinical diagnoses. For the mere clinical diagnosis of melanoma sensitivity was 79%, specificity was 78% and diagnostic accuracy was 65%. All diagnostic values increased by dermatoscopy: sensitivity reached 90%, specificity was 93%, and diagnostic accuracy was 83%. In order to determine tumor thickness preoperatively tumor thickness was measured by 20 MHz sonography. The correlation of tumor thickness between histometric and sonographic results was determined for nevi (r = 0.93) and melanoma (r = 0.95); 74.3% of melanomas were diagnosed correctly within an 0.2 mm range. Regarding the clinical important limit of 1 mm tumor thickness, 87.2% were diagnosed in accordance with histometric evaluation. An increase of 18% in diagnostic accuracy by dermatoscopy and 87.2% of correctly diagnosed cases of tumor thickness of malignant melanoma by high frequency sonography clearly demonstrate that these methods should be considered standard procedures in the diagnosis of pigmented skin lesions and will facilitate the decision on necessary surgical treatment.

Background: High-resolution sonographic measurement of skin tumors, especially of malignant melanomas, allows presurgical assessment of the most important prognostic factor--tumor thickness. A good correlation between ultrasonographic and histopathologic thickness measurement has been reported. Procedures for preparing tissue for histopathologic examination, such as excision, fixation in formalin, dehydration in alcohol, and embedding in paraffin, may cause the tissue to retract and shrink and may therefore affect thickness measurement results., Objective: Our purpose was to evaluate the influence of skin preparation procedures on ultrasound measurement results and to compare tumor thickness values obtained sonographically versus those obtained histopathologically., Methods: Sixty-three epithelial (n = 37) and melanocytic (n = 26) tumors, benign as well as malignant, were measured by ultrasound before and immediately after excision and after overnight fixation. Sonographically and histopathologically determined tumor thicknesses were compared., Results: Loss of skin tension after excision led to an increase in measured tumor thickness because of spherical retraction of the specimen. Subsequent fixation, dehydration, and embedding reversed this effect, so that altogether, histopathologically assessed tumor thickness was only slightly lower than ultrasound-derived thickness before excision. This was true for melanocytic as well as epithelial lesions., Conclusion: Loss of skin tension after excision and tissue preparation procedures seem to offset each other and lead to a good overall correlation between ultrasonographic and histopathologic measurements.

A 26-year-old man presented with an insidious loss of vision OD. He had amblyopia OD as a child secondary to congenital esotropia. Ophthalmic examination revealed a large mass beneath his right retina near the posterior pole. He also had glaucoma and a rapidly developing cataract. Ultrasound detected a choroidal mass, which was consistent with a melanoma. The patient chose enucleation over radiation therapy as his treatment modality. Pathologic evaluation of the tumor revealed a necrotic melanocytoma with a large malignant melanoma arising from its center that was comprised mainly of epithelioid cells. Malignant melanoma arising in a necrotic melanocytoma is an extremely rare event, and we believe this to be the first description of this event in a young patient with an amblyopic eye.

A ten year old boy had six cutaneous angiomas and recurrent rectal bleeding responsible for iron deficiency anemia. Histological examination established the diagnosis of blue rubber bleb naevus syndrome. Endoscopy, arteriography, computed tomography, and angioscintigraphy disclosed additional angiomas in the stomach and rectum and along the blood vessels in the lower limbs. The value of angioscintigraphy for identifying angiomas escaping detection by other means was illustrated in this case. Embolization of the inferior mesenteric artery was successful in preventing further rectal bleeding. Treatment of this disorder remains controversial.

The common perception that melanocytomas of the optic disc do not affect visual function is one that must be challenged. We report two cases of melanocytoma of the optic disc that show that visual function can be significantly affected. The benign nature of optic disc melanocytomas in contrast to the urgency needed in optic nerve malignant melanomas makes the differential diagnosis even more critical. In addition, recent reports have documented malignant transformation of melanocytomas. Therefore, close observation and proper diagnostic work-up of any suspicious optic nerve head tumor is essential.

The correct diagnosis of small pigmented choroidal tumours is often difficult. We reviewed 16 cases with a mean follow-up of 58 months and illustrate the difficulties which can be encountered in correctly diagnosing small to medium-sized pigmented tumours. Of those 16 cases, 4 cases ultimately progressed and needed appropriate therapy. Some suspected melanomas grew initially but then stayed stationary for a long period of time. In doubtful cases, it is essential to document the evolution with echography, fundoscopy, fundus photographs, fluorescein-angiography, visual fields and eventually ICG-angiography. If progression is documented, appropriate treatment has to be considered.

Twenty-one patients with skin tumors were examined before and after operation using special high-frequency ultrasound B-scanners. The different histological types were related to sonographic phenotypes, and the extent of tumors in the ultrasound image was comparable with that seen on the histometric image. The extent and invasion depth of skin tumors were assessed correctly by ultrasound.

There is paucity of data on the value of neovascular blood flow measurements in the differential diagnosis of human choroidal tumors, mainly due to difficulties in quantitating tumor vascularity in vivo. Color Doppler imaging and Duplex ultrasound, the combination of B-mode ultrasound and pulse Doppler analysis, were used to quantify tumor blood flow in 103 untreated tumors of the choroid. Pulsatile blood flow was detected at the tumor base of 62 choroidal melanomas (tumor height (TH) 3.1-11.7 mm) with a mean peak systolic frequency (MPSF) of 0.98 kHz (range 0.3-2.7 kHz). Compared to melanomas pulsatile neovascular flow in choroidal metastases (TH 2.1-6.5 mm, n = 12) was significantly higher (MPSF 1.87 kHz, range 0.8-3.5 kHz). No Doppler signals were elicited from age-related macular degeneration (n = 9), choroidal nevus (TH 1.5-2.1 mm, n = 18) and choroidal osteoma (n = 2). The results indicate that the quantitative measurement of tumor blood flow by duplex and color Doppler ultrasound may serve as a new diagnostic tool in the evaluation of intraocular tumors.

Duplex ultrasound imaging combines the investigation of morphological structures and hemodynamic data analysis. In ophthalmology the technique permits a non-invasive evaluation of retinal and orbital vascular disorders for diagnostic purposes as well as the quantitative measurement of vascularity in intraocular and orbital tumors. We present current approaches to quantitate velocity patterns in the ophthalmic and retinal artery by Duplex ultrasound imaging. Results and clinical applications of Duplex ultrasonography studies designed to characterize the vascular network in intraocular and orbital tumors are reviewed.

A bone scan and red blood cell scan in the rare epidermal naevus syndrome, associated with multiple haemangiomas of the bone and hypophosphataemic osteomalacia in a 20-year-old man are reported. The typical pattern of osteomalacia on the bone scan was associated with lesions of increased bone metabolism in the peripheral bones. The haemangiomas did not pool labelled red blood cells. Thus, the bone scan seems to be suitable for diagnosing the complete extent of haemangiomas in bone, but they could not be specifically proven by red blood cell pooling.

A case of a giant congenital cellular blue nevus of the scalp of a newborn with focal areas of malignant melanoma is presented. The nevus was associated with focal invasion of the underlying soft tissues, calvarium, epidural space, and dura mater. The later appearance of pigmented nevi in the submandibular region, sternocleidomastoid muscle, and testicular hydrocele raises the question of future metastases despite the nonmalignant microscopic appearance. Therapy consisted of total excision with cranioplasty and rotation and split skin grafts after temporary closure with silicone mesh.

Two cases of pediatric blue rubber bleb nevus syndrome are reported. The main features of the disease are rubbery blue cutaneous nevi and hemangiomatous, frequently hemorrhagic malformations of the bowel wall. Polypoid filling defects were seen throughout the bowel on barium studies. This entity should be considered in the differential diagnosis of polyposis, and the skin should be carefully examined for nevi when multiple bowel polyps are demonstrated, especially in patients with gastrointestinal bleeding.

Malignant melanoma is one of the most common primary intraocular neoplasms. Recently, 99mTc radiolabelled (Fab')2 fragments of monoclonal antibody 225.28S raised against cutaneous melanomas have been used for imaging uveal melanomas. We report here a case where uptake of radiolabelled antibody was observed in a choroidal melanoma of the right eye and a benign choroidal naevus of the left.

The authors report a rare case of cellular blue nevus located in the right frontotemporoparietal area of the scalp with local extension to the central nervous system. The diagnostic value of computed tomography is discussed.

A 22-year-old man presents with a history of blurring of vision in his right eye. Ophthalmologic examination reveals a pigmented mass obscuring his optic disc. Two weeks later the patient experienced the apoplectic onset of visual loss to light perception. Discussions center around the presumed diagnosis of melanocytoma of the optic nerve.

The clinical and radiographic findings in four cases of cerebral hemiatrophy are presented. CT findings reflect the underlying gross pathologic changes and are in agreement with those seen on plain skull radiography and pneumoencephalography. The most impressive finding was unilateral loss of cerebral volume with ipsilateral displacement of the midline structures. The differential diagnosis primarily includes Sturge-Weber syndrome and linear sebaceous nevus syndrome. The recognition of compensatory calvarial changes should indicate that the cerebral abnormalities are the result of an atrophic or hypoplastic process that began in early life.

We experienced a case of blue rubber bleb nevus syndrome with familial onset. The patient was a 32-year-old male with a gallstone and many bluish rubber bleb-like hemangiomas on the skin. He suffered from repeated rectal bleeding and underwent a sigmoidectomy at age 17. Gastrointestinal hemangiomas were recognized in the esophagus, stomach, ileum and colon. An angiogram revealed multiple small poolings in the liver, suggesting the presence of hemangiomas. During the cholecystectomy, surgeons noted the presence of hemangiomas on the surface of the liver, serosa of the small intestine and retroperitoneum. Out of 73 blood relatives, 24 also had bluish skin hemangiomas, suggesting them to be inherited by an autosomal dominant trait. More than sixty cases of this syndrome had been reported in the world, eight of which had family histories of skin lesions. However, in only three cases, including our own, was the presence of skin and gastrointestinal hemangiomas recognized. Because the clinical indications for diagnosis of blue rubber bleb nevus syndrome consist of minimal to massive bleeding from the gastrointestinal tract, the possibility that this syndrome is present should be considered when diagnosing a bleeding patient with multiple bluish rubber bleb-like skin lesions, in addition to taking a detailed family history.

A 57-year-old Caucasian woman was found, on a routine ophthalmoscopic examination, to have a pigmented ciliary body mass suggestive of a malignant melanoma. The eye was enucleated primarily because a radioactive phosphorus test yielded a 79% greater uptake over the lesion than over a control area-a result regarded as positive at that time. Histopathologically, the lesion proved to be a benign melanocytoma of the ciliary body. Electron microscopy clearly revealed a large complement of inflammatory cells (macrophages) within the tumor. This case reemphasizes the advisability of carefully documenting tumor growth before enucleating eyes harboring pigmented lesions.

The nevus sebaceous of Jadassohn (NSJ) syndrome is a not uncommon pediatric dermatosis, with malignant potential. It is the cutaneous manifestation of another phakomatosis, characterized by neurologic, ophthalmic, cardiovascular, skeletal, and urogenital involvement. The features of this syndrome overlap those of the oculo-auriculo-vertebral dysplasia of Goldenhar and tuberous sclerosis. The extent of system involvement suggests a developmental insult during the first few weeks of gestation. A clearly genetic basis has not been established. An infant with NSJ syndrome is described who had associated optic nerve hypoplasia. His clinical, pathologic, and radiologic findings, including computed tomography (CT) and magnetic resonance imaging, are presented.

Four patients with Jadassohn nevus phakomatosis (linear nevus sebaceus syndrome, Schimmelpenning-Feuerstein syndrome) are described. Neuroradiological findings consisted of skull asymmetry shown by X-rays and hemimegalencephaly with ventricular system asymmetry on CT. Three of the patients showed, in addition, a widened insula. In two patients areas of increased density suggesting calcium deposits were seen. Skull asymmetry was progressive during infancy in two of the patients. It is presumed that these findings are secondary to the progression of the underlying central nervous system disorder.

A 3 1/2-year-old boy with this syndrome is reported. The clinical features were: linear organoid nevus, characteristically involving the midline of the face with extension to one side (right side in this case), hemimacrocephaly, mental and motor retardation, epilepsy originating from a focus in the right hemisphere, a malformed hemisphere and ventricular system on the right side on pneumoencephalographic and angiographic study and a hamartoma-like malformation protruding into the frontal horn of the right lateral ventricle.