1/7. Naevus varicosus osteohypertrophicus. An early diagnostic approach.Naevus varicosus osteohypertrophicus (synonym Klippel-Trenaunay Syndrome KTS) is relatively rare circumscribed, usually quadrant-related gigantism with vascular hyperplasia or malformations based on the embryonic development. The authors observed an 18- and a 30-year-old female with a triad of symptoms: cutaneous nevus flammeus, varicose and dilated veins, and bony and soft tissue hypertrophy of the low limb. The second patient also had two venous ulcers as a dominant clinical feature--a rare manifestation of Klippel-Trenaunay syndrome. A diagnosis of Klippel-Trenaunay syndrome was made by clinical observations, laboratory findings, dermoscan, radiological examination of the bones of the limb, Doppler ultrasonography, photopletismography and venoscan. A bone isotope scan was also done to the first patient. Making an early diagnosis of this sporadic congenital disease with unknown aetiology is important in order to be able to provide early prophylactic and therapeutic measures. Klippel and Trenaunay in 1900 were the first to describe a patient with the simultaneous appearance of osteohypertrophy, hemangiomas and varicose veins involving one extremity [1]. In 1907 Parkes and Weber reported a similar syndrome--they described a patient who had dilated and pulsatile arteries in the affected region including the presence of arterio-venous communications. In 1918 they used the compromise term "haemangiectatic hypertrophy" to embrace all conditions which were associated with congenital vascular malformations including A-V anastomoses associated with bone and soft tissue hypertrophy. Most authors are agreed that Klippel-Trenaunay syndrome and the syndrome of multiple congenital arterio-venous fistulae are two separate features of the Parkes Weber hypertrophy. KTS is manifesting with a triad of symptoms: cutaneous vascular nevus (more frequently nevus flammeus type), superficial venous varicosities and hypertrophy of the affected limb. Usually one quadrant of the body is involved: quite often a leg, an arm, lateral side of the trunk, very rarely the face. More than one quadrant and bilateral involvement are rarely affected. Naevus flammeus appeared at birth. It is extremely variable both in extent and in color--the latter ranging from pale pink to deep purple. Veinous varicosities appear in childhood and adolescence. They are painful and may be complicated by superficial or deep venous thrombosis and rarely, ulceration. hypertrophy of the affected extremities is due to bone and soft tissue hypertrophy. KTS can be associated with other developmental anomalies such as: polydactyly, syndactyly, oligodactyly [2] macrocephaly, blue nevus, epidermal naevus, venous malformations.- - - - - - - - - - ranking = 1keywords = naevus (Clic here for more details about this article) |
2/7. Naevus anaemicus with teleangiectatic vessels.We describe a 20-year-old man with naevus anaemicus on the chest where, after dermabrasion of the epidermis, enlarged teleangiectatic dark-red vessels were seen within the previously pale area. They were clearly different from those seen on dermabrasion at this site in normal skin and in patients with vitiligo where the area is lighter red with only small punctual bleedings from arterial capillaries. The naevus anaemicus and a port-wine stain (naevus flammeus) in the same location is a phenomenon of vascular twin spotting, which was revealed when the epidermis was removed. The area was transplanted with thin epidermal grafts and healed within 2 weeks. One year later the naevus looked the same as before grafting. Much thicker grafts than those used by us will be needed, but they are not cosmetically acceptable.- - - - - - - - - - ranking = 4keywords = naevus (Clic here for more details about this article) |
3/7. Encephalotrigeminal angiomatosis.We report an unusual case of encephalotrigeminal angiomatosis in which the facial and oral angioma was bilateral, and several teeth were congenitally absent. The developmental nature of the anomaly is reviewed. Encephalotrigeminal angiomatosis is commonly referred to as the sturge-weber syndrome, after Sturge and Weber who first described this affliction in 1879. The main clinical features of this syndrome are 1. venous angiomatosis of the leptomeninges of the cerebral-cortex, usually unilaterally 2. ipsilateral facial angiomatosis that often follows in outline the distribution of the trigeminal nerve (Fig 1) 3. ipsilateral gyriform calcification of the cerebral cortex 4. epileptic convulsions (contralateral focus) or other seizures 5. ocular defects (choroidal angioma, glaucoma hemianopia) 6. mental retardation 7. contralateral hemiplegia 8. obesity 9. oral mucosal and gingival involvement. Other less typical features are 1. association with hypomelanosis of 1 to 10 2. leptomeningeal angioma contralateral to the facial nevus 3. leptomeningeal angioma without facial vascular naevus 4. association with gastro intestinal hemorrhage 5. paranasal sinus enlargement. This syndrome that affects males and females equally, is a rare congenital disorder, apparently hamartomatous in nature, from persistence of a primitive embryonal vascular plexus. During the sixth week of intra-uterine life this plexus develops around the cephalic portion of the neural tube and under the ectoderm in the region destined to become facial skin. In the sturge-weber syndrome, the vascular plexus fails to regress, as is normal during the ninth week, resulting in angiomatosis of the related tissues. Variation in the degree of persistence or regression of the vascular plexus accounts for unilaterality or bilaterality of involvement, and also for an incomplete syndrome in which the leptomeninges, but not the facial tissues are affected. Leptomeningeal angiomatosis is the primary abnormality of encephalotrigeminal angiomatosis, all other features of the syndrome probably being secondary to this. Calcification of the cortex is a poorly understood phenomenon which may result from stasis of blood in the angioma, associated with altered local metabolism. epilepsy and other neurological seizures, and mental retardation are probably, in their turn, secondary to the cortical calcification. The most striking clinical feature of the sturge-weber syndrome is the facial vascular naevus which generally follows the distribution of innervation of one or more divisions of the trigeminal nerve, whence the term encephalotrigeminal angiomatosis. However, the naevus may be more extensive, down the neck and even onto the chest. The oral tissues underlying the affected facial tissues are invariably also angiomatous and may be considerably enlarged as a result. Alterations in eruption of teeth have also been noted. Histologically, affected soft tissues are very vascular, resembling a pyogenic granuloma or a capillary, or cavernous hemangioma. Yukna, Cassingham and Carr noted that affected bone was partially replaced by a delicate fibrous tissue containing thin-walled vascular spaces. Neither inflammatory cells, nor fatty or haemopoietic marrow was noted.- - - - - - - - - - ranking = 3keywords = naevus (Clic here for more details about this article) |
4/7. Widespread capillary malformation associated with global developmental delay and megalencephaly.Although port wine stains are seen in 0.3% births, widespread cutaneous capillary malformations are unusual and an association with static gliosis has not been previously reported. This is a report of a 3-year-old boy with a fixed widespread capillary naevus (port wine stain), megalencephaly and global developmental, and features of gliosis on brain magnetic resonance imaging (MRI).- - - - - - - - - - ranking = 1keywords = naevus (Clic here for more details about this article) |
5/7. Two cases of atypical membranous aplasia cutis with hair collar sign: one with dermal melanocytosis, and the other with naevus flammeus.We report two atypical cases of membranous aplasia cutis surrounded by a rim of hairs, one case associated with dense dermal melanocytosis and the other with naevus flammeus, with characteristic clinical features. A rim of hypertrichosis, 'hair collar' sign, is proposed to have a close association with neuroectodermal defects. A failure of the normal closure of the cranial neural tube might have affected foetal skin development, including melanoblast migration and capillary network formation. The changes in the present cases, as well as the hair collar sign may suggest a complex hamartomatous nature of membranous aplasia cutis.- - - - - - - - - - ranking = 5keywords = naevus (Clic here for more details about this article) |
6/7. Progressive fetal axillary cystic lymphangioma with coexistent naevus flammeus.We report the rare occurrence of a progressive fetal axillary cystic lymphangioma coexistent with an overlying naevus flammeus. The fetus at 22 weeks' gestation was found to have a 37 x 35 mm left axillary multiloculated mass without colour-flow imaging. amniocentesis showed a normal 46,XX karyotype. Multiple fine-needle aspirations of the mass in the second and third trimesters obtained blood-stained chocolate-coloured fluid containing numerous erythrocytes and lymphocytes but proved ineffective in lessening the progressive growth of the mass. The mother underwent caesarean delivery and a healthy neonate was born with a 141 x 81 mm left axillary cystic lymphangioma and a 50 x 35 mm coexistent naevus flammeus. The neonate was well after simple excision of the lesions. Although cystic lymphangiomas arising in the axilla enlarge progressively during fetal life, our case suggests a good prognosis and except for genetic evaluation, no prenatal intervention is required.- - - - - - - - - - ranking = 6keywords = naevus (Clic here for more details about this article) |
7/7. proteus syndrome with widespread portwine stain naevus.proteus syndrome is a rare condition comprising asymmetrical overgrowth of different parts of the body in association with various cutaneous abnormalities. We describe a 3-year-old boy with proteus syndrome, who presented with hemihypertrophy of the right leg, asymmetric macrodactyly, subcutaneous masses and a widespread portwine stain interspersed with angiokeratomas on the right leg, scrotum and on the middle and left side of the back. Doppler ultrasound of the right leg did not show hypercirculation, but did reveal the absence of the right superficial femoral vein.- - - - - - - - - - ranking = 4keywords = naevus (Clic here for more details about this article) |