Port-wine stains: a new hypothesis

Port-wine stains have been shown to be derived from a progressive ectasia of the superficial vascular plexus. Recent studies have documented a marked decrease in nerves associated with these abnormal vessels. It is suggested that this nerve loss is primarily of autonomic origin (sympathetic) and the failure to regulate blood flow is the basis for the progressive vascular ectasia that characterizes these lesions.     

Port-wine stains unresponsive to pulsed dye laser: explanations and solutions

The flashlamp-pumped pulsed tunable dye laser has represented a significant advance in the treatment of port-wine stains (PWS). However, not all patients will respond. In this review, the clinical features influencing the response of PWS to the pulsed dye laser will be discussed. Theoretical and clinical data are presented to explain why not all PWS will respond to this laser. Methods to overcome the problems of non-responding PWS are suggested, including new treatment devices and techniques.     

Port-wine stains. A disease of altered neural modulation of blood vessels?

Port-wine stains result from a progressive ectasia of the cutaneous superficial vascular plexus. One hypothesis for the pathogenesis of this lesion is an abnormal neural regulation of blood flow. Biopsy specimens of 11 port-wine stains, seven hemangiomas, and 17 benign lesions were stained for S100 protein using immunoperoxidase techniques. All specimens were of facial biopsies or excisions and were evaluated for vessels per square millimeter, nerves per square millimeter, vessel-to-nerve ratio, and frequency of vessels coursing within 0.03 mm of nerves. These variables were evaluated in the superficial 0.8 mm of dermis, a zone that includes almost all abnormal port-wine-stain vessels. Controls showed 18.3 +/- 2.8 vessels/sq mm (+/- SD), 21.1 +/- 9.2 nerves/sq mm, 0.9 +/- 0.3 vessels to nerves, and 75% +/- 11% of vessels coursing within 0.03 mm of nerves, values that did not alter with age. Port-wine stains had a significant decrease in nerve density and increase in vessel-to-nerve ratio when compared with normal skin; only 17% +/- 3% of vessels were associated with nerves in port-wine stains. These findings document a deficit in the number of perivascular nerves in port-wine stains and raise the possibility that a lack of neural modulation of vascular flow may be involved in the pathogenesis of port-wine stains.     

Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report

Port-wine stains (PWS) are capillary malformations associated with mutation in the GNAQ (NM_000441.1) gene. Large vestibular aqueduct syndrome (LVAS), caused by mutation in the SLC26A4 (NM_002072) gene, is an inner ear malformation that can lead to hearing loss. To our knowledge, LVAS in PWS patients has never been reported. Here, we describe a case of a 9-year-old female patient diagnosed with PWS on the face and neck, coexisting with large vestibular aqueduct syndrome. Further analyses revealed a somatic mutation in GNAQ and a compound heterozygous mutation in the SLC26A4 gene. Some PWS patients have associated abnormalities, such as glaucoma and choroidal hemangioma, leptomeningeal angiomas and atrophy or hypertrophy of bone and soft tissue. We present here the first case that reveals the possibility that capillary malformations are associated with inner ear malformation. More case reports and further studies are needed to determine whether these conditions coexist in other patients.     

Laser treatment of pediatric vascular lesions: Port wine stains and hemangiomas

Pediatric vascular lesions can be medically threatening and psychologically distressing to patients. This article reviews literature on the laser treatment of two common pediatric vascular lesions, port wine stains and hemangiomas. The purpose of this report was to distinguish the lesions from one another and to present the advantages, disadvantages, complications, and limitations of laser treatment for each lesion type. This review is not a comprehensive inventory but instead highlights the studies that best show promising results or the limitations of laser treatment for the lesions. Overall, port wine stain laser treatment promoted notable clearing with low side effects, whereas hemangioma laser treatment provided inconsistent benefits and severe side effects occasionally. Laser treatment of port wine stains is safe and effective, but laser treatment of hemangiomas remains controversial and is best for lesions without deeper components.     

The ultrastructure of treponema pallidum isolated from human chancres. Morphologic variations from Nichols' strain

The ultrastructure of treponema pallidum obtained directly from human chancres by biopsy was studied by electron microscopy. The treponemes were enveloped by a trilaminar cytoplasmic membrane and a trilaminar periplastic membrane. The central part of the periplastic membrane corresponds to the protective mucoid layer. In undamaged organisms bunches of axial filaments were seen to entwine the whole cytoplasmic body without any disruption or overlapping. The number of axial filaments varied between three and four. Identical nose pieces were demonstrable in both ends of the treponemes. Axial filaments and nose pieces seem to differ from those of Nichols' strain.     

Agminated, eruptive pyogenic granuloma-like lesions developing over congenital vascular stains

We report three infants who developed agminated pyogenic granulomas over congenital vascular malformations, all of which had an aggressive growth pattern. There were no precipitating events such as laser therapy or surgery. Lesions were excised.     

Immunohistochemical stains in extramammary Paget's disease.

The histologic and immunohistochemical characteristics of 49 skin biopsy specimens from 49 patients with extramammary Paget's disease were studied. Patients with extramammary Paget's disease with and without underlying malignant disease were identified. Associated malignant lesions, present in 16 patients (33%), were transitional cell carcinoma of the bladder (n = 8), adenocarcinoma underlying the skin (n = 3), adenocarcinoma of the anus (n = 1), adenocarcinoma of the vulva (n = 1), apocrine carcinoma (n = 1), prostate carcinoma (n = 1), and carcinoma metastatic to the lung (n = 1). The main histologic feature was the presence of Paget's cells, predominantly at the base of the epidermis. In 6% of the cases, well-defined nests of large Paget's cells mimicked melanocytic nests. Carcinoembryonic antigen and Cam 5.2 (a monoclonal antibody that stains 40-kDa, 45-kDa, and 52.5-kDa low molecular weight keratins) were localized to the Paget's cells in 42 of 45 (93%) and 29 of 41 cases (71%), respectively. Forty-four of 46 lesions (96%) were mucin positive, as determined by Hale's colloidal iron stain. Absence of staining for colloidal iron and carcinoembryonic antigen occurred somewhat more frequently in patients with underlying malignant disease than in patients without tumors (13% vs. 0% mucin negative and 13% vs. 3% carcinoembryonic antigen negative, respectively). Although immunohistochemical staining for low molecular weight keratin may be used to confirm the diagnosis of extramammary Paget's disease, Cam 5.2 is not as sensitive as the colloidal iron or carcinoembryonic antigen stain.     

Multiple generalized glomus tumors. Morphologic and biochemical findings

A 54 year-old woman developed approximately 150 generalized glomus tumors since she had been 23 years old. Painful tumors showed more glomus cells than those being not painful. Furthermore, the patient suffered from persisting congenital capillary hemangioma (strawberry mark). Histological examination revealed that glomus cells were located in the vessel walls. The large amount of Dopa found in the glomus tumor tissue supports the assumption that it may be innervated by adrenergic efferent nerves.     

Epiluminescence microscopy for port-wine stains: pretreatment evaluation.

BACKGROUND: Port-wine stains (PWSs) are characterized by an increased number of ectatic vessels. The treatment of choice is the use of some lasers such as pulsed dye lasers. However, some lesions are nonresponsive to laser treatment. Perhaps the vessels' depth and diameter and the thickness of the vessel wall are important factors influencing the effectiveness of the laser treatment. METHODS: To investigate whether epiluminescence microscopy (ELM) could be useful in determining the effectiveness of laser treatment of PWSs, we studied a group of patients with PWSs using both ELM and histological analysis. RESULTS: A correlation existed between a gray-whitish veil seen by ELM and the vessel depth judged by histology: when the veil was absent, the vessels were always found to be located only in the upper third of the dermis. CONCLUSION: We think that the gray-whitish veil is a distinctive dermoscopic feature that is able to differentiate between superficial vessels (absence of veil) and deeper vessels (presence of veil).     

Thickening and nodules in port-wine stains

Port-wine stains are vascular ectasias that can develop thickening or nodules over time. Thickening is a further dilation of the ectatic vessels, and nodules are vascular neoplasms or hyperplasias. The records of 173 subjects with port-wine stains were reviewed for thickening, nodules, and associated characteristics. The incidence of nodules increased with age. Thickening often began in early adulthood, but its intensity and association with nodules continued to increase into older age. Thickening and nodules were most common in the area of the second and third branches of the trigeminal nerve innervating the face and were associated with deepening color. The incidence of thickening alone was greater in male than in female patients.     

Morphologic changes of pigmented skin lesions: a useful extension of the ABCD rule for dermatoscopy

BACKGROUND: Epiluminescence microscopy (ELM) significantly increases the early diagnosis of pigmented skin lesions (PSL) using established criteria and pattern analysis. The ABCD rule for dermatoscopy (ie, ELM) provides a simplified approach to the interpretation of ELM images on the basis of asymmetry (A), border (B), color (C), and dermatoscopic structure (D). OBJECTIVE: We set out to determine whether the diagnostic accuracy of the ABCD scoring algorithm can be significantly improved by incorporating information about morphologic changes of the lesion observed and provided by the patient. METHODS: We prospectively collected 356 small pigmented skin lesions (< 1 cm) including 73 (20.5%) melanomas. Before excision all patients were asked whether the lesion had changed in size, color, or shape within the last year or whether they experienced any sign of ulceration or spontaneous bleeding. ELM images of the lesions were evaluated according to the ABCD rule for dermatoscopy to yield a semiquantitative score. Accuracy of diagnosis was evaluated in terms of sensitivity, specificity, and area under receiver operating characteristic curves (AUC). RESULTS: The frequency of reported changes was significantly higher for melanomas than benign PSL (65.8% vs 29.7%, P < .001). In a multivariate model morphologic change was a significant independent predictor of malignancy (odds ratio = 3.17, 95% confidence interval [CI]: 1.96 to 5.14, P < .001). The mean final score achieved when using the enhanced ABCD-E criteria including morphologic change (E) was significantly higher for melanomas (5.7, 95% CI: 5.3 to 6.0) than benign PSL (2.9, 95% CI: 2.8 to 3.1, P < .001). Diagnostic accuracy was significantly higher when the lesions were evaluated by the enhanced ABCD-E criteria as compared with the standard ABCD score (AUC(ABCD) = 0.87 vs AUC(ABCD-E) = 0.90; P = .006). CONCLUSION: Information about morphologic changes of PSL as reported by the patient is a useful extension of the ABCD rule for dermatoscopy.