Cutis marmorata telangiectatica congenita is rare; approximately 65 cases have been reported in the dermatologie literature.19 Van Lohuizen first described the syndrome in 1922 as including a congenital reticulate or marble-like appearance of the skin, phlebectasias, spider telangiectasias, and areas of cutaneous ulceration, which invariably improve with time.1 Since that initial description, this condition has been reported under the name of congenital generalized phlebectasia by numerous authors.2-5 Other synonyms include nevus vascularis reticularis,6 livedo telangiectatica,7 and Van Lohuizen's syndrome.8
The clinical features of this syndrome vary; many abnormalities other than those described above have been reported in patients with this syndrome. We report two cases in which cutis marmorata telangiectatica congenita is associated with a nevus flammeus of the face and congenital glaucoma. This condition and its association with congenital glaucoma have not been published previously.
CASE 1: A 2½-year-old girl had buphthalmos of the right eye. She had a history of photophobia, but no history of pain or tearing. Both pregnancy and delivery were uncomplicated. There was no history of a seizure disorder or a delay in psychomotor development. The family history was negative for glaucoma, hemangiomata, or other potentially related phenomena.
Examination showed normal bilateral central fixation in both eyes. The pupils were equal and normally reactive; there was no relative afferent defect. A 20-diopter alternating exotropia was demonstrated by Hirschberg testing. The intraocular pressure (IOP) was estimated by palpation to be increased in the right eye compared with the left.
FIGURE 1: Case 1. Koeppe gonioscopy demonstrating a deep anterior chamber angle with 2+ pigmentation on the trabecular meshwork (arrow). There is no blood in Schlemm's canal.
The patient was examined under anesthesia by two of us (SS and JH). The IOP was recorded with a Perkins handheld tonometer and was found to be 27 mm Hg in the right eye and 16 mm Hg in the left eye. The horizontal corneal diameter was 12 mm in the right eye and 10 mm in the left eye.
Both corneas were clear and there were no signs of Haab's striae. Gonioscopy of the right eye revealed 2+ trabecular pigmentation (Figure 1 ). There was a hazy appearance to the peripheral iris surface, and the trabecular meshwork appeared to be covered by a membranous structure. The filtration angle was deep, and there was no sign of an angle recession. There was no blood in Schlemm's canal.
Gonioscopy of the left eye showed only a trace of pigment in the trabecular meshwork. The angle was felt to be a bit narrower, but the angle structures appeared completely normal.
Fundus examination after dilation revealed a cup-to-disc ratio of 0.8 OD and 0.3 OS. No choroidal hemangiomas were observed and the fundi of both eyes were ophthalmoscopically identical.
The cutaneous lesions included a nevus flammeus located on the right side of the face involving the distribution of all three divisions of the fifth cranial nerve. These lesions became more reticulated toward the edges of the lesion. There were some telangiectases noted in a reticulated pattern on the left side of the face involving the distribution of the second and third divisions of the fifth cranial nerve (Figure 2). Similar reticulated telangiectases were noted elsewhere on the child's body, the most striking of which involved the right lower extremity including the dorsum of the foot, excluding the plantar surface (Figure 3). The left foot and lower leg were affected, but less severely; the left thigh was completely unaffected. Both upper extremities were moderately involved on the flexor surfaces with extension onto the dorsal surface of the hands ( Figure 4 ); both palms were unaffected.
FIGURE 2: Case 1. Full face view demonstrating the nevus flammeus most prominent on the right side.
A trabeculotomy ab externo was performed in the right eye. No immediate postoperative complications were encountered. The IOP has remained in the high teens during a 3-year follow-up period. The first recordable vision at age 3 was 20/200 in the right eye and 20/30 in the left; this remained stable during the ensuing 2½ years. There has been no progression of the optic nerve cupping.
CASE 2: A 3-day-old girl was seen in consultation for photophobia, buphthalmos, tearing, and a corneal opacity all involving the right eye. Both pregnancy and delivery were normal, and there weis no history of seizures or abnormal neurologic findings. Family history was negative for glaucoma, hemangiomata, or other potentially-related phenomena.
The ocular examination demonstrated that the baby could fix and follow with the left eye; mobility of the right eye was normal. Examination of the pupils was very difficult due to the cloudy cornea of the right eye. The external examination of the involved right eye showed mild conjunctival injection, a moderate to severe amount of corneal stroma edema, and apparent buphthalmos. The IOP of the right eye, estimated by palpation, was elevated when compared with the left eye. Examination of the left eye was normal.
FIGURE 3: Case 1. Lower extremities with the marbled appearance of cutis marmorata telangiectatica congenita.
A nevus flammeus was noted with its normal confluent homogeneous pattern in the distribution of all three divisions of the fifth cranial nerve on the right side of the face (Figure 5 ). The lesion respected the midline on the philtrum; however, this is less apparent elsewhere. Reticulated telangiectases were present at the periphery of the nevus flammeus; these included the medial portion of the right upper lid, and were present in isolation on the left side of the face involving the second and third divisions of the fifth cranial nerve. Reticulated telangiectases were prominent on the left upper and lower extremities, and appeared more reticulated and slightly darker than the confluent nevus flammeus on the face.
FIGURE 4: Case 1. Upper extremities and trunk with mild involvement on the flexor surfaces of the arms and involvement of the right thoracic and abdominal areas.
FIGURE 5: Case 2 at age 8 years. Full face view demonstrating nevus flammeus of the right side and cutis mormorata telangiectatica congenita on the left side.
The patient was examined under anesthesia. The conjunctiva of the right eye was minimally injected. Examination of the right cornea showed marked epithelial and stromal edema; the left cornea was normal. Haab's striae and iris details could not be seen due to the corneal edema. The IOP was 36 mm Hg in the right eye by both Schiotz and Perkins tonometry; the pressure in the left eye was normal. The diameter of the cornea was 13.5 mm OD and 10.0 mm OS.
The corneal edema could not be cleared sufficiently to permit a gonioscopic examination. Examination of the fundus was similarly unsuccessful due to the corneal haze.
A trabeculectomy was performed in the right eye, but failed to control the IOP; a repeat trabeculectomy was required to satisfactorily control the IOP.
During the 5-year follow-up period, the child's vision has remained poor but stable (finger counting), attributable to a combination of advanced glaucomatous optic atrophy and amblyopia. Gonioscopy at follow-up examination showed a peripheral iris insertion. There was a suggestion of a membrane growing over angle structures, but this was less apparent than in Case 1. No dilated episcleral vessels were seen.
Cutis marmorata telangiectatica congenita (CMTC), as it was first described by Van Lohuizen, is a distinct clinical entity present at birth consisting of an unusual but characteristic appearance of the skin. There is persistent dilation of the superficial capillaries and veins (Figure 3), which gives the skin a marble-like appearance that is consistent and constant, thus distinguishing it from the physiologic temperature dependent response to cold and crying called cutis marmorata. Patients with CMTC also may develop ulcerations overlying the cutaneous lesions. These ulcers heal spontaneously often leaving secondary atrophy of the skin. There is a marked tendency for the blue and red telangiectases to resolve during the first 2 decades of life.
Since it was described in 1922, there have been approximately 65 reported cases, but none of these has appeared in the ophthalmic literature. Way et al report the extremely high incidence of other congenital abnormalities, which include subcutaneous atrophy, deep ulcerations, hemiatrophy, hemihypertrophy, macrocephaly, nevus flammeus, Klippel-Trenaunay syndrome, psychomotor delay, dystrophic teeth, patent ductus arteriosus, mental retardation, Sturge-Weber syndrome, varicosities, capillary hemangiomas, cavenous hemangiomas, syndactyly, and congenital glaucoma.5
Petrozzi et al published the only description of a patient with both CMTC and a nevus flammeus-like lesion of the face.9 The patient was also mentally retarded, leading the authors to believe that this represented an incomplete form of Sturge-Weber disease. Both of our patients had a nevus flammeus that extended laterally from the midline of the face and congenital glaucoma. Neither had any sign of mental retardation or other neurologic disorder. Due to the mottled appearance of the peripheral portions of the nevus flammeus-type lesions we have described, it is uncertain whether these facial lesions represent true nevus flammeus or whether they are an exaggerated confluence of the vascular changes found elsewhere. It should be emphasized that neither patient showed any of the other characteristic symptoms of Sturge-Weber syndrome.
Many mechanisms have been proposed for the development of glaucoma associated with a nevus flammeus.10-15 An abnormal angle appearance similar to that found in congenital glaucoma has been reported.11-14 Another mechanism proposed is the hypersecretion of aqueous.11-13 Phelps demonstrated an increase in the episcleral pressure and postulated this as a third mechanism.10 In a recent publication, Cibis et al separated those patients having glaucoma with and without buphthalmos.15 They postulated that the early onset of glaucoma is usually associated with anomalous-appearing filtration angles, and the lateronset glaucoma is a result of abnormal hemodynamics of the episcleral vessels.
Our findings support an anomalous angle as the cause of glaucoma. CMTC, when associated with a nevus flammeus and glaucoma, falls into the category of buphthalmosassociated glaucoma, as reported by Cibis. The case report by Petrozzi does not specifically mention buphthalmos, but the patients photograph suggests its presence. Therefore, all three cases thus far have been associated with buphthalmos.
Neither of our patients was noted to have any associated, dilated episcleral vessels said by some to cause secondary congenital glaucoma in the Sturge-Weber disease.10 Neither patient had a flat anterior chamber postoperatively, also thought to be evidence of increased episcleral venous pressure. Furthermore, in both cases gonioscopy revealed an abnormal appearance of the anterior chamber angle and lack of blood in Schlemm's canal. The angle abnormalities appeared similar to those found in congenital glaucoma, and the lack of blood in Schlemm's canal suggests that the episcleral venous pressure was not elevated. It would seem, therefore, that the etiology of the glaucoma in the two patients described here is an abnormality of the angle structures, rather than increased pressure in the episcleral vessels.
Our review of the literature found only a single report of CMTC associated with congenital glaucoma. While approximately 65 cases of CMTC have been reported, it is not as rare as the literature suggests, because single, uncomplicated cases are probably no longer reported. CMTC has not been reported previously in the ophthalmic literature, but this may be because the striking nevus flammeus and associated glaucoma cause it to be overlooked.
Our two cases and Petrozzi's case had types of congenital glaucoma. Our findings suggest that the pathogenesis differs from the popular belief that it is secondary to increased episcleral pressure. There was no dilation of episcleral veins in either of our cases. When gonioscopy was possible, no blood was seen in Schlemm's canal, and in both cases a flat postoperative chamber did not occur. Indeed, the abnormal appearance of the angle on gonioscopy is similar to that found in congenital glaucoma, which may indicate that pathogenesis in CMTC associated with nevus flammeus is based on a developmental anomaly of the filtration angle. Finally, patients with CMTC do not appear to develop glaucoma without the presence of a nevus flammeus in the fifth nerve distribution.
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