PATHOLOGY OF VASCULAR SKIN LESIONS - PART 3 pps

54 Sangüeza and Requena / Pathology of Vascular Skin Lesions The bone lesions are radiologically translucent and histopathologically consist of enchondromas. Of prime importance is the risk of malignant transformation of the enchondromas into chondrosarcomas, which occur in approximately 15% of the patients (21). Other cutaneous lesions described in patients with Maffucci’s syndrome include café- au-lait macules (22) and cystic lymphatic malformations (23). In addition to chondro- Fig. 16. (A) Dramatic upper limb deformity with large venous malformations involving the entire right upper extremity in a patient with Maffuci’s syndrome. (B) Close-up view of the lesions of the forearm. 05/Sangüeza/27-72/F 01/14/2003, 11:21 AM54 Chapter 5 / Cutaneous Vascular Malformations 55 sa rcoma, other malignant neoplasms have been reported in patients with Maffucci’s syndrome including fibrosarcoma (24), angiosarcoma (21), lymphangiosarcoma (25), osteosarcoma (22), malignant ovarian neoplasms (21), gliomas (21), adenocarcinoma of pancreas (24), and other multiple primary malignancies (21,22,24).The differential diagnosis of Maffucci’s syndrome has to be established with Ollier disease’s, in which there is dyschondroplasia without cutaneous vascular lesions (25). Venous malformations are also prominent in and are the main cutaneous manifesta- tion of Klippel-Trenaunay syndrome. The dominant features of this syndrome include cutaneous capillary and venous malformations, congenital varicose veins, and hypertrophy of the involved limb (26) (Fig. 17). When, in addition to the aforementioned features, there is an arteriovenous fistula, the disorder is termed Parkes Weber syndrome (27). Klippel-Trenaunay syndrome affects males and females equally. Most commonly the malformation is unilateral, and the lower limb is the most commonly involved area. However, in rare cases the upper and lower limbs or the upper limb alone are affected; bilateral involvement has also been reported, and occasionally the disease affects the entire trunk. Regardless of the location, the malformation is present at birth, although it may not be clinically apparent at that time. Almost all reported cases are sporadic, although a few cases with a familial tendency have been described (28). Cutaneous lesions of Klippel-Trenaunay syndrome may consist of one or several port wine stains over the affected limb (26,27,29–35), but in addition, it is common to find Fig. 17. (A) Venous malformation involving the entire lower right extremity in a patient with Klippel-Trenaunay syndrome. (B) Close-up view of the lesions involving the leg. 05/Sangüeza/27-72/F 01/14/2003, 11:21 AM55 56 Sangüeza and Requena / Pathology of Vascular Skin Lesions large venous ectatic vessels and vesicular lymphatic lesions (36). These vascular malformations do not blanch significantly under pressure. In many cases varicosities are associated with the venous malformations. The varicosities start from a plexus of veins of the dorsum and lateral side of the foot and extend up a variable distance on the leg. Incom- petent perforating veins and deep vein abnormalities, which consist of occlusion by a fibrous band, agenesis, or atresia, are also seen in these patients. The involved limb is usually hypertrophic, and this enlargement is mostly caused by muscle hypertrophy, thickened skin, excessive subcutaneous fat, the bulkiness of the abnormal vascular tissue, and sometimes concomitant lymphedema. Usually there is little increase in bone diam- eter in the hypertrophic limb. Patients with this syndrome occasionally complain of profuse sweating of the skin involved in the vascular malformation, and the affected areas may also feel warmer than normal. Other systems and organs may show abnormalities in patients with Klippel-Trenaunay syndrome (37); these anomalies usually occur within or adjacent to the area involved by the vascular malformation. They can affect any mesodermal and ectodermal structure, suggesting a more generalized dysplasia of the structures subject to a common teratoge- nic influence. Venous thrombosis is common in patients with Klippel-Trenaunay syndrome, and therefore these patients have frequent episodes of pulmonary embolism. The simultaneous occurrence of Klippel-Trenaunay syndrome and Fabry’s disease has been described in the same patient (38). Gorham’s syndrome (39) is a rare, nonfamilial disorder, that affects both sexes equally. It is characterized by the development of venous and lymphatic malformations in the skin, mediastinum, and bones (40,41). The osseous lesions cause osteolysis with fibrosis and may lead to the disappearance of entire bones. Roentgenograms demonstrate lytic lesions on the involved bones with little or no sclerosis. Cutaneous lesions usually develop in the areas adjacent to the involved bones and may be accompanied by local muscular atrophy. Usually, Gorham’s syndrome is self-limited (42), although an aggressive variant with a poor prognosis has been described (43). Bannayan-Zonana syndrome is a rare autosomal dominant disorder characterized by benign macrocephaly, lipomas, and cutaneous and visceral vascular malformations (44). The cutaneous lesions are usually deeply situated, bluish nodules (45–47), but lesions resembling superficial lymphatic malformations and angiokeratomas have also been described (48). Visceral involvement may be massive, resulting in life-threatening obstruction of vital organs, including the gastrointestinal tract and the central nervous system (48). The macrocephaly is not associated with hydrocephalus, and most patients remain intellectually normal, although mental retardation has been described in some cases (49). Riley-Smith syndrome is an autosomal dominant condition described in five members of the same family. It consists of macrocephaly without hydrocephalus, pseudopapilledema, and cutaneous capillary, venous, and lymphatic malformations (50). Cutaneous vascular lesions may be present either at birth or appear shortly thereafter. The abdominal wall, hands, feet, and thighs are the most commonly involved sites. The patients remain intellectually and neurologically normal. This syndrome is similar to the Bannayan-Zonana syndrome, except that patients with the Riley-Smith syndrome have pseudopapilledema and do not have systemic lipomatous lesions. In 1980, Ruvalcaba et al. (51) described two male patients thought to be affected with hamartomatous intestinal polyps and spotted pigmentation of the penis. Based on the description of these two patients and other cases from the literature (52,53); Cohen (54) 05/Sangüeza/27-72/F 01/14/2003, 11:21 AM56 Chapter 5 / Cutaneous Vascular Malformations 57 suggested that the condition described by Ruvalcaba et al. (51) was a distinctive entity and coined the name Ruvalcaba-Myhre syndrome. Since then, additional cases have been reported under the name of Ruvalcaba-Myhre-Smith syndrome (55–57). In 1988, Dvir et al. (58) described a boy with macrocephaly, pseudopapilledema, lipoangiomatosis, and spotted pigmentation of the penis. Because the patient had clinical features of three syndromes (Bannayan-Zonana, Riley-Smith, and Ruvalcaba-Myhre-Smith), the authors proposed that the three conditions were simply different expressions of a single heredofamilial disorder. Cohen (59) supported this unifying theory and suggested that the “new” syndrome be named after the first authors of the three original reports, i.e., Bannayan-Riley-Ruvalcaba syndrome. Subsequently, additional reports of Bannayan- Riley-Ruvalcaba syndrome have appeared in the literature, lending further support to the unifying concept (60–62). Recently, patients with Bannayan-Riley-Ruvalcaba syndrome and facial tricholemmomas have been described, raising the possibility that Bannayan- Riley-Ruvalcaba syndrome and Cowden disease may represent different alleles at the same genetic locus or mutations of two genes in a common pathway (62). Other rare miscellaneous syndromes that may show cutaneous venous malformations include zosteriform venous malformations grouped in a unilateral dermatomal distribu- tion (63,64); hereditary neurocutaneous vascular malformations syndrome (65), which is transmitted as an autosomal dominant trait and it is characterized by the presence of multiple cutaneous vascular malformations associated with intracranial arteriovenous malformations; venous malformations on the face and anterior trunk associated with sternal cleft and atrophic scar on the median abdominal raphe (66); retroauricular hemangiomatous branchial clefts associated with several facial and neurosensorial anomalies (67); sacral vascular malformations associated with renal, genital, osseous, and neurologic malformations (68); cutaneous vascular malformations associated with vascular anomalies of the retina and optic nerve (69); and several members of a family affected by venous malformations involving the mouth, skin, and soft tissues, inherited as an autosomal dominant trait and with no other associated anomalies (70). H ISTOPATHOLOGIC FEATURES Histopathologically, venous malformations generally consist of ectatic blood vessels of irregular size and shape involving the deep dermis and subcutaneous fat (Fig. 18). Some of the involved blood vessels show thin walls, whereas others exhibit a thick layer of smooth muscle in their walls. Thrombosis and phleboliths are common, and areas of extravasated erythrocytes, deposits of hemosiderin, and extravascular calcifications are also frequent findings. Some of the cutaneous lesions of the aforementioned complex syndromes associated with venous malformations may show specific histopathologic features. Large blue facial lesions with the clinical appearance of venous malformations showing glomus cells surrounding the vascular structures are better interpreted as glomangiomas (2). In some patients with blue rubber bleb nevus, the cutaneous lesions may also show multiple glomangiomas (18,71–73). The gastrointestinal lesions of patients with blue rubber bleb nevus show similar histopathologic features to those of the cutaneous lesions. The case described as “blue rubber bleb nevus with vascular lesions suggesting a link to the Osler- Rendu-Weber syndrome” (74) is better interpreted as an example of blue rubber bleb nevus with telangiectatic cutaneous lesions but not related to the Osler-Rendu-Weber syndrome. 05/Sangüeza/27-72/F 01/14/2003, 11:21 AM57 58 Sangüeza and Requena / Pathology of Vascular Skin Lesions Histopathologically, the cutaneous lesions of Maffucci’s syndrome consist of large, blood-filled vascular channels lined with flat endothelial cells. The walls of the vascular spaces vary from thin, delicate, irregularly outlined walls to thick, fibrous, and smooth Fig. 18. Histopathologic features of a venous malformation. (A) Scanning power view showing dilated vascular spaces in both superficial and deep dermis. The deeper component shows congestive blood vessels. (B) Higher magnification of the deeper component shows congestive dilated blood vessels. (C) Still higher magnification shows thin-walled blood vessels and hemosiderin deposition on adjacent dermis. 05/Sangüeza/27-72/F 01/14/2003, 11:21 AM58 Chapter 5 / Cutaneous Vascular Malformations 59 muscle-containing walls. Several cases of spindle cell hemangiomas in patients with Maffuci’s syndrome have been described (75–83). Spindle cell hemangioma consists of well-circumscribed but not encapsulated nodules that combine features of hemangioma and Kaposi’s sarcoma. Dilated blood vessels appear as thin veins that sometimes contain organized thrombi and phleboliths within their lumina. Interspersed among the dilated blood vessels there are fascicles of spindle cells mimicking Kaposi’s sarcoma, but within the fascicles there are also round cells with prominent vacuolated cytoplasm. Sometimes vacuolization of the cytoplasm of round cells is so marked that they may be mistaken for entrapped fatty tissue. Histopathologically, the cutaneous vascular lesions of patients with Bannayan-Riley- Ruvalcaba syndrome show different combinations of capillary, venous, and lymphatic malformations (51). T REATMENT Small venous cutaneous malformations may be treated by simple surgical excision, but in those cases in which the vascular malformation is associated with other internal abnormalities, a careful follow-up of the patient is required. It is usually impossible to remove large extensive venous malformations surgically without causing severe scarring and other complications. In those cases involving the limbs, elastic stocking use is man- datory and should be started early in infancy. Management of patients with blue rubber bleb nevus depends on the individual case. Resection of the involved bowel segment may be required in patients with recurrent melena and anemia. Painful cutaneous lesions of glomangiomas may be treated by excision, cryosurgery, or laser therapy (13). Patients with Maffucci’s syndrome require careful follow-up, with radiologic and histopathologic examination of any rapidly enlarging bone lesion for early diagnosis of chondrosarcoma. Surgical excision of the cutaneous vascular malformations may be indicated to improve the appearance of the patient. Spindle cell hemangioma is a benign lesion and excision is curative. Superficial venous varicosities of patients with the Klippel-Trenaunay syndrome may be treated by ligation and stripping to relieve the local pain, but recurrences are common (33). Before excision of the superficial veins, a radiographic exploration should be performed to demonstrate that there is neither absence nor hypoplasia of the deep venous system. Patients with Klippel-Trenaunay syndrome should receive antithrombotic prophylasis prior to any surgery owing to the high risk of thromboembolic complications (33). No effective treatment has been found for patients with Gorham’s syndrome, although radiotherapy may be helpful for bone pain. Patients with Bannayan-Riley-Ruvalcaba syndrome should be explored for detection of neurologic or any other associated internal malformation, and genetic counseling should be given to the family. References 1. Boon LM, Mulliken JB, Vikkula M, et al. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet 1994;3:1583–7. 2. Mounayer C, Wassef M, Enjolras O, Boukobza M, Mulliken JB. Facial “glomangiomas”: large venous malformations with glomus cells. J Am Acad Dermatol 2001;45:239–45. 3. Boon LM, Brouillard P, Irrthum A, et al. A gene for inherited cutaneous venous anomalies (“glomangiomas”) localizes to chromosome 1p21-22. Am J Hum Genet 1999;65:125–33. 4. Kern S, Niemeyer C, Darge K, Merz C, Laubenberger J, Uhl M. Differential of vascular birthmarks by MR imaging. 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Gastrointestinal bleeding due to blue rubber bleb nevus syndrome. Gastroenterology 1971;61:530–4. 12. McCauley RGK, Leonidas JC, Bartoshesky LE. Blue rubber bleb nevus syndrome. Radiology 1979;133:375–7. 13. Olsen TG, Milroy SK, Goldman L, et al. Laser surgery for blue rubber bleb nevus. Arch Dermatol 1979;115:81–2. 14. Baiocco FA, Gamoletti R, Negri A, et al. Blue rubber bleb nevus syndrome: a case with predominant ENT localization. J Laryngol Otol 1984;98:317–9. 15. McCarthy JC, Goldberg MJ, Zimbler S. Orthopedic dysfunction in the blue rubber bleb nevus syndrome. J Bone Joint Surg 1982;64A:280–3. 16. Rennie JG, Shortland JR, Mahood JM, et al. Periodic exophthalmos associated with blue rubber bleb nevus syndrome. Br J Ophthalmol 1982;66:594–8. 17. Satya-Murti S, Navada S, Eames F. Central nervous system involvement in blue rubber bleb nevus syndrome. Arch Neurol 1986;43:1184–6. 18. Sakurane HF, Sugai T, Saito T. The association of blue rubber bleb nevus and Maffucci’s syndrome. 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Radiology 1978;128:429–34. 35. Viljoen D, Saxe N, Peran J, et al. The cutaneous manifestations of the Klippel-Trenaunay-Weber syndrome. Clin Exp Dermatol 1987;12:12–7. 36. Servelle M. Klippel-Trenaunay syndrome. Ann Surg 1985;201:365–76. 37. Young AE, Ackroyd J, Baskerville P. Combined vascular malformations. In: Mulliken JB, Young AE, eds. Vascular Birthmarks. Hemangiomas and malformations. Philadelphia, WB Saunders, 1988:247–74. 38. Germain DP. Co-occurrence and contribution of Fabry disease and Klippel-Trenaunay-Weber syndrome to a patient with atypical skin lesions. Clin Genet 2001;60:63–7. 05/Sangüeza/27-72/F 01/14/2003, 11:21 AM60 Chapter 5 / Cutaneous Vascular Malformations 61 39. Gorham LW, Wright AW, Shultz HH, et al. Disappearing bones: a rare form of massive osteolysis. Am J Med 1954;17:674–82. 40. Frost JF, Caplan RM. Cutaneous haemangiomas and disappearing bones with a review of cutaneo- visceral haemangiomatosis. Arch Dermatol 1965;92:501–8. 41. Gellis SS, Feingold M. Hemangiomas with osteolysis (Gorham’s disease: vanishing bone disease). Am J Dis Child 1978;132:715–6. 42. Mendez AA, Keret D, Robertson W, et al. Massive osteolysis of the femur (Gorham’s disease): a case report and review of the literature. J Pediatr Orthop 1989;9:604–8. 43. Haferkamp O. Uber das Syndrome generalisierte maligne Haemangiomatosis mit Osteolysis. Krebforsch 1962;64:418–26. 44. Bannayan GA. Lipomatosis, angiomatosis, and macrocephalia: a previously undescribed congenital syndrome. Arch Pathol 1971;92:1–5. 45. Higginbottom MC, Schultz P. The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors. Pediatrics 1982;69:632–4. 46. Miles HR, Zonana J, MacFarland J. Macrocephaly with hamartomas: Bannayan-Zonana syndrome. Am J Med Genet 1984;19:225–34. 47. Zonana J, Rimoin DL, Davis DC. Macrocephaly with multiple lipomas and hemangiomas. J Pediatr 1976;89:600–3. 48. Klein JA, Barr RJ. 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Superficial lymphatic malformation involving the posterior aspect of the thigh. Fig. 20. Superficial lymphatic malformation involving the anterior aspect of the right forearm. Numerous small vesicle-like lesions grouped in a plaque. 6. SUPERFICIAL CUTANEOUS LYMPHATIC MALFORMATIONS CLINICAL FEATURES Superficial cutaneous lymphatic malformations are localized lesions of the cutaneous, subcutaneous, or submucosal lymphatic vessels. These lesions have been referred to in the past as “lymphangiomas,” which is an inaccurate term. The lesions are usually present at birth or appear shortly thereafter; they can be located in any anatomic site but have a predilection for the axillary folds, shoulders, neck, proxi- mal parts of the extremities (Figs. 19 and 20), and tongue (1–3). Superficial lymphatic malformations (inaccurately termed “lymphangioma circunscriptum”) are the common- est variant of cutaneous lymphatic malformation. Clinically, the lesion consists of numerous small vesicle-like lesions, often with a verrucous surface, grouped in a plaque. Sometimes, owing to the presence of blood vessels, purplish areas can be seen within the lesion. The stereotypical superficial lymphatic malformation is accompanied by dilated lymphatic cisterns located in the subcutaneous fat, which results in swelling of the tissue 05/Sangüeza/27-72/F 01/14/2003, 11:22 AM63 [...]... comparison of hemangioma and lymphangioma Ultrastruct Pathol 1990;14:497–504 14 Lymboussaki A, Partanen TA, Olofsson B, et al Expression of the vascular endothelial growth factor C receptor VEGFR -3 in lymphatic endothelium of the skin and in vascular tumors Am J Pathol 1998;1 53: 395–4 03 15 Folpe AL, Veikkola T, Valtola R, Weiss SW Vascular endothelial growth factor receptor -3 (VEGFR -3 ) : a marker of vascular. .. / Pathology of Vascular Skin Lesions Fig 1 (A) Clinical appearance of a spider angioma on the dorsum of the nose (B) Close-up view of the lesion References 1 Wenzl JE, Burgert EO Jr The spider nevus in infancy and childhood Pediatrics 1964 ;33 :227 32 2 Whiting DA, Kallmeyer JC, Simson IW Widespread arterial spiders in a case of latent hepatitis with resolution after therapy Br J Dermatol 1970;82 :32 –6... high-energy, long-pulse, frequency-double Nd:YAG laser Dermatol Surg 2001;27 :35 5–7 06/Sangüeza/7 3- 9 8/F 85 01/14/20 03, 11:47 AM 86 Sangüeza and Requena / Pathology of Vascular Skin Lesions 4 ANGIOKERATOMAS The term angiokeratoma is used to refer to several unrelated conditions, whose common denominator is the presence of dilated blood vessels in association with epidermal hyperplasia The designation of. .. Wochenschro 1959; 139 :167–74 8 Okada N Solitary giant spider angioma with an overlying pyogenic granuloma J Am Acad Dermatol 1987;16:10 53 4 9 Tan OT, Gilchrest BA Laser therapy for selected cutaneous vascular lesions in the pediatric population: a review Pediatrics 1988;82:652–62 06/Sangüeza/7 3- 9 8/F 75 01/14/20 03, 11:47 AM 76 Sangüeza and Requena / Pathology of Vascular Skin Lesions 2 CAPILLARY ANEURYSM-VENOUS... venous lakes are the same lesion Capillary aneurysms represent 06/Sangüeza/7 3- 9 8/F 77 01/14/20 03, 11:47 AM 78 Sangüeza and Requena / Pathology of Vascular Skin Lesions Fig 5 Histopathologic features of a venous lake (A) Low-power shows a dilated vascular channel in the upper dermis (B) Higher magnification shows a thin-walled vascular structure the early lesion in which there is superficial vein thrombosis... hereditary hemorrhagic telangiectasia (31 ) Cutaneous lesions consist of telangiectases involving the palms and the soles, especially the area under the nails In addition, the mucosa of the lips, tongue, palate, and nasal mucous membrane may also show prominent lesions (Fig 8) 06/Sangüeza/7 3- 9 8/F 81 01/14/20 03, 11:47 AM 82 Sangüeza and Requena / Pathology of Vascular Skin Lesions Hereditary benign telangiectasia... 22 Clinical appearance of a lymphatic malformation on the axilla, with a deep component of subcutaneous nodules and a superficial component of an angiomatous appearance 05/Sangüeza/2 7-7 2/F 67 01/14/20 03, 11:22 AM 68 Sangüeza and Requena / Pathology of Vascular Skin Lesions Fig 23 Histopathologic features of a deep lymphatic malformation (A) Scanning power view shows dilated vascular structures involving... aneurysms of the skin Arch Dermatol 1966;96:670 3 7 Alcalay J, Sandbank M The ultrastructure of cutaneous venous lakes Int J Dermatol 1987;26:645–6 8 Neumann RA, Knobler RM Venous lakes (Bean-Walsh) of the lips—treatment experience with the argon laser and 18 months follow-up Clin Exp Dermatol 1990;15:115–8 06/Sangüeza/7 3- 9 8/F 78 01/14/20 03, 11:47 AM Chapter 6 / Cutaneous Lesions with Dilations 79 3 TELANGIECTASES... of a young woman (B) Close-up view showing telangiectases on the dorsum of the hand 06/Sangüeza/7 3- 9 8/F 79 01/14/20 03, 11:47 AM 80 Sangüeza and Requena / Pathology of Vascular Skin Lesions Fig 7 Generalized essential telangiectasia involving the anterior right thigh of an adult woman common in males (2,6–8), whereas the acquired form predominantly affects females Acquired lesions in females usually... well-differentiated angiosarcoma (1,2) However, the endothelial cells lack atypia The lumina of the lymphatic channels either appear empty or 05/Sangüeza/2 7-7 2/F 71 01/14/20 03, 11:22 AM 72 Sangüeza and Requena / Pathology of Vascular Skin Lesions contain a proteinaceous eosinophilic material In one case, there was prominent intra- and extravascular extramedullary hematopoiesis with large amounts of . with Klippel-Trenaunay syndrome. (B) Close-up view of the lesions involving the leg. 05/Sangüeza/2 7-7 2/F 01/14/20 03, 11:21 AM55 56 Sangüeza and Requena / Pathology of Vascular Skin Lesions large. to the Osler-Rendu-Weber syndrome. 05/Sangüeza/2 7-7 2/F 01/14/20 03, 11:21 AM57 58 Sangüeza and Requena / Pathology of Vascular Skin Lesions Histopathologically, the cutaneous lesions of Maffucci’s. VEGFR -3 in lymphatic endothelium of the skin and in vascular tumors. Am J Pathol 1998;1 53: 395–4 03. 15. Folpe AL, Veikkola T, Valtola R, Weiss SW. Vascular endothelial growth factor receptor -3 (VEGFR -3 ) : a

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