1/22. Phakomatosis pigmentovascularis IIb with renal anomaly.Phakomatosis pigmentovascularis (PPV) is a rare congenital naevoid syndrome; most case reports originate in japan. The major clinical manifestations consist of coexisting extensive naevus flammeus and pigmentary naevus with or without systemic involvement. We report an 8-year-old Taiwanese boy, who was born with extensive naevus flammeus and other anomalies comprising persistent aberrant mongolian spot-like pigmentary patches, leg-length discrepancy, pelvic obliquity, scoliosis and bilateral melanosis oculi bulbi. Further investigation also revealed agenesis of the right kidney. The cutaneous lesions remained unchanged over a 3-year follow-up period. Within the classification of PPV, this boy's disorder represents an example of PPV IIb. Right kidney agenesis, which has never been observed in PPV, may be an incidental finding.- - - - - - - - - - ranking = 1keywords = naevus (Clic here for more details about this article) |
2/22. Phacomatosis pigmentovascularis type IIa successfully treated with two types of laser therapy.We describe a 28-year-old Japanese woman with phacomatosis pigmentovascularis type IIa who was treated by 27 sessions of Q-switched ruby laser irradiation to the site of dermal melanosis on her face and three sessions of dye laser irradiation to the port-wine stain on her left cheek. This is the first report of the successful treatment of a cutaneous lesion in a patient with phacomatosis pigmentovascularis. As the outcome of the treatments was excellent, we conclude that phacomatosis pigmentovascularis type IIa can be treated successfully by the combination of the two types of laser therapy.- - - - - - - - - - ranking = 8.9409043908335E-6keywords = cell (Clic here for more details about this article) |
3/22. Neurocutaneous melanosis with hydrocephalus, intraspinal arachnoid collections and syringomyelia: case report and literature review.Neurocutaneous melanosis (NCM) is a rare nonfamilial syndrome, characterised by large or numerous congenital pigmented nevi and excessive proliferation of melanin-containing cells in the leptomeninges. We report the MR findings in the brain and spine of a child with NCM who underwent neurosurgical treatment and was followed up for 8 years. The findings in this child (small hyperintense collections of melanocytes in both temporal lobes, mild meningeal enhancement along the spine and the development of an extensive subarachnoid CSF accumulation with cord compression and syringomyelia) are believed to be exceptionally rare.- - - - - - - - - - ranking = 8.9409043908335E-6keywords = cell (Clic here for more details about this article) |
4/22. Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes.- - - - - - - - - - ranking = 1.6666666666667keywords = naevus (Clic here for more details about this article) |
5/22. septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion.In this case report a patient with bilateral optic nerve hypoplasia, schizencephaly and a pigmented skin lesion is described. The diagnosis of de Morsier syndrome or septo-optic dysplasia is put forward on the basis of the diagnosis of optic nerve hypoplasia. The differential diagnosis with Jadassohn's naevus phakomatosis is discussed. The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of this syndrome.- - - - - - - - - - ranking = 0.33333333333333keywords = naevus (Clic here for more details about this article) |
6/22. Perioperative management of infants with the linear naevus sebaceous syndrome of Jadassohn: a report of two cases.Neurofibromatosis and tuberous sclerosis are the most well-recognized of the congential phakomatoses, a group of six hereditary neuro-oculo-cutaneous disorders. Although easily diagnosed at birth by a parasagittal line of facial sebaceous naevi, the linear naevus sebaceous syndrome (LNSS) of Jadassohn is the rarest phakomatosis, one often characterized by airway and anaesthetic considerations that do not apply to the other phakomatoses. In addition to its obvious cutaneous manifestations, LNSS is characterized by hemifacial asymmetry, an anatomic predictor of difficult trachael intubation, and intractable seizure activity, a condition that limits selection of anaesthetics. The perioperative management challenges of LNSS are depicted in the presentation of two cases of LNSS with different outcomes and contrasted with the major anaesthetic considerations in the perioperative management of other, more common phakomatoses.- - - - - - - - - - ranking = 1.6666666666667keywords = naevus (Clic here for more details about this article) |
7/22. Linear and whorled nevoid hypermelanosis.Linear and whorled nevoid hypermelanosis (LWNHM) is a reticulate pigmentary disorder with a sporadic occurrence, representing genetic mosaicism. It is characterised by hyperpigmented macules in a reticulate pattern along Blaschko's lines, sparing the mucous membranes and stabilising after one to two years. It may be associated with various neurological abnormalities. The disorder may resemble incontinentia pigmenti, epidermal nevus, or zebra-like hyperpigmentation clinically. We report LWMNHM in a 15-year-old girl with progressively increasing streaks of reticulate hyperpigmented macules arranged in a whorled pattern over the trunk and extremities, which appeared soon after birth. There was no history of any preceding eruption or any associated systemic abnormality. Histopathological examination revealed basal cell hyperpigmentation without any pigmentary incontinence. CT scan of the brain was normal.- - - - - - - - - - ranking = 8.9409043908335E-6keywords = cell (Clic here for more details about this article) |
8/22. Neurocutaneous melanosis: a case of primary intracranial melanoma with metastasis.Neurocutaneous melanosis is a rare disorder characterized by the presence of large or multiple congenital melanocytic naevi and benign or malignant pigment cell tumours of the leptomeninges. Distant metastasis is unusual in primary leptomeningeal/intracranial melanomas. We present the case history of an adult male who had multiple primary intracranial melanomas associated with neurocutaneous melanosis (naevus of Ota) in the ophthalmic division of the left trigeminal nerve. Excision of the intracranial tumours was carried out in two stages, but the patient died 2 days after the second operation. autopsy showed multiple metastatic deposits in the liver. Symptoms and signs of raised intracranial pressure, the presence of Ota's naevus, and a dural-based mass or masses should alert the treating physician to suspect a primary leptomeningeal/intracranial melanoma.- - - - - - - - - - ranking = 0.66667560757106keywords = naevus, cell (Clic here for more details about this article) |
9/22. Cerebral mass due to neurocutaneous melanosis: eight years later.Neurocutaneous melanosis (NCM) is associated most commonly with giant congenital melanocytic nevi (CMN), in particular those on the scalp or in a posterior axial location that are accompanied by satellite congenital nevi. It also can occur in patients with multiple medium-sized CMN. In general, the prognosis of those with symptomatic NCM is poor, even in the absence of malignancy, while the prognosis of those with asymptomatic NCM detected via screening varies and is more difficult to predict. Herein we report an asymptomatic patient with a giant CMN and multiple satellite nevi who had a screening magnetic resonance imaging (MRI) study at age 5 months that showed a rounded area of increased signal in the right temporal lobe on T1-weighted images, suggestive of parenchymal melanosis. This melanotic mass was resected at age 10 months, and histologic examination of the surgical specimen showed prominent perivascular collections of benign, pigment-containing melanocytes within cerebral tissue. The patient remains healthy 8 years later. His excellent long-term outcome and other reports of NCM with localized central nervous system (CNS) involvement apparent on MRI may have implications for management, including early imaging of patients with high-risk CMN and potential surgical intervention for NCM.- - - - - - - - - - ranking = 8.9409043908335E-6keywords = cell (Clic here for more details about this article) |
10/22. Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man.Phacomatosis pigmentokeratotica is a rare but highly characteristic disease defined by the occurrence of an organoid naevus with sebaceous differentiation, a speckled-lentiginous naevus and other associated anomalies. It is probably caused by the twin-spot phenomenon. We report on a 23-year-old male electrician with 10 irregularly shaped, sharply demarcated, brownish-yellow papillomatous plaques following Blaschko's lines, as well as 6 large, sharply demarcated, round to oval, slightly greyish macules with pewit-egg-like dots, involving both buttocks, the right thigh, the right knee, the right pectoral region and the upper back. A moderate hyperhidrosis of the palms, soles and axillae was noted. All routine blood tests and laboratory findings, including chest X-ray, ECG, abdominal ultrasound, ocular and neural examination were unrevealing. Phacomatosis pigmentokeratotica may be associated with dysaesthesia, segmental hyperhidrosis, mild mental retardation, epileptic seizures, deafness, ptosis, strabismus or muscular weakness. In our patient, only slight hyperhidrosis was present, whereas all other associated anomalies could be excluded.- - - - - - - - - - ranking = 0.66666666666667keywords = naevus (Clic here for more details about this article) |
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