1/489. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature. The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome. ( info) |
2/489. Epidermal naevus syndrome. A case of the epidermal naevus syndrome is presented. Huge enlargement of both lower limbs was the presenting symptoms together with an extensive veavus unius lateris on the trunk. ( info) |
3/489. Nevoid basal cell carcinoma syndrome. A case report of a young girl with nevoid basal cell carcinoma syndrome is presented. The patient showed cutaneous and skeletal findings characteristic of the syndrome. Multiple basal cell carcinomas, rib abnormalities, along with clinical evidence of frontal bossing and ocular hypertelorism were the primary features of the syndrome in this patient. It is suggested that other characteristics of the syndrome, such as jaw cysts, palmar and plantar pitting and calcification of the falx cerebri will develop as the patient grows older. Careful observation, particularly for medulloblastoma and malignant degeneration and invasiveness of basal cell carcinomas, will be an integral part of this young patient's care. ( info) |
4/489. Extensive naevoid eccrine spiradenoma. We describe a 19-year-old girl with a painful naevoid eccrine spiradenoma affecting the right side of the body. This represents an extremely rare variant of this benign eccrine sweat gland tumour, and is the most extensive lesion described in the U.K. to date. ( info) |
| PURPOSE: To determine the features of fluorescein and indocyanine green angiography of melanocytoma. methods: Fluorescein and indocyanine green angiography is used to assess an optic nerve head melanocytoma in a 45-year-old female. RESULTS: fluorescein angiography revealed increased vascularity on the surface, with staining around the lesion in the late stages. The lesion was hypofluorescent in all stages of indocyanine green angiography. CONCLUSIONS: indocyanine green angiography is helpful in identifying the benign nature of the lesion by showing hypofluorescence, indicating lack of vascularity in the tumor. ( info) |
6/489. Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome? We report a 22 year old female presenting with slowly progressive paraparesis, who appeared to have many (mainly subcutaneous) hamartomas. The neurological symptoms were caused by intraspinal masses and arteriovenous malformations. In addition, she had mild overgrowth of one leg and lymph vessel malformations. This combination of symptoms resembles proteus syndrome, but is different in symptomatology and progression and may be yet another hamartoneoplastic syndrome. ( info) |
7/489. Linear epidermal nevus and nevus sebaceus syndromes: a clinicopathologic study of 3 patients. BACKGROUND: Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and mental retardation. Pathologic descriptions of the central nervous system findings in such patients are rare. DESIGN: We examined the clinicopathologic features of 2 patients with linear epidermal nevus syndrome and 1 with nevus sebaceus syndrome who underwent surgical resections for chronic epilepsy in a tertiary referral center with a high volume of epilepsy surgery. RESULTS: patients included 3 females, aged 11 months (patient 1), 8 years (patient 2), and 2 1/2 years (patient 3) at the time of surgery. The duration of seizures prior to surgery was 11 months, 6 years, and 28 months, respectively. Two patients had epidermal nevi involving the head region (patients 1 and 3), and 1 had a nevus sebaceus of Jadassohn (patient 2); patient 2 had a choristoma, and patient 3 had a dermoid cyst in the eye region. Patient 1 demonstrated hemimegalencephaly radiographically. Histologic examination of resected cortical tissue in patients 1 and 2 demonstrated severe diffuse cortical dysplasia characterized by a disorganized cortical architectural pattern, a haphazard orientation of cortical neurons, and increased molecular layer neurons. Gyral fusion was seen in patient 1. Pial glioneuronal hamartomas were observed in patient 1. Prominent cortical astrocytosis was seen in patients 1 and 2, and foci of microcalcification were evident in patient 1. Cortical dysplasia was milder in patient 3 and consisted of an increased number of molecular layer neurons. Neuronal heterotopia was observed in all 3 patients. CONCLUSION: The spectrum of neuronal migration abnormalities in the setting of these syndromes may be variable in terms of its histologic phenotypic manifestations. ( info) |
8/489. Unusual giant comedo naevus. Comedo naevi are usually well circumscribed, and although extensive cases have been reported individual lesions crossing the midline are rare. Associated neurological, skeletal and ophthalmological abnormalities are also recognized. thus, the patient now reported is unusual in that she had an extensive systematized comedo naevus with crossing of the midline but no associated abnormalities. Topical tretinoin was helpful in improving the texture and appearance of the comedones, and various larger lesions responded to curettage. ( info) |
9/489. Aggregated dilated pores. We report a 74-year-old Japanese man who had a 10-year history of approximately 20 open comedones crowded onto his lateral neck. An excisional biopsy revealed that each comedo was histologically a dilated pore. Dilated pores are usually solitary. The multiple and aggregated dilated pores seen in our case have never been reported. ( info) |
10/489. The spectrum of epidermal nevi: a case of verrucous epidermal nevus contiguous with nevus sebaceus. During the normal development of skin, pluripotential cells give rise to keratinocytes, sebaceous glands, hair follicles, apocrine glands, and eccrine glands. In epidermal nevi, these components emerge in an abnormal mixture within a circumscribed site. Many authors have categorized epidermal nevi based on their predominant component; however, there is often notable overlap that occurs within a single area or within contiguous areas. We report a verrucous epidermal nevus contiguous to a nevus sebaceus of Jadassohn. The categories of epidermal nevi are somewhat artificial. Our case supports the view that epidermal nevi have a spectrum of manifestations, including verrucous epidermal nevi and nevus sebaceus of Jadassohn. ( info) |