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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is well known that when the Horner's syndrome is congenital, a defect in pigmentation of the iris is usual; all or part of the iris remains light brown. We reported an adult case of congenital Horner's syndrome with remission and relapse of unilateral ptosis. A 25-year-old man was admitted to our hospital for ophthalmologic surgical treatment of right ptosis. According to the patient's mother, the patient was delivered with the aid of forceps at birth, and the right ptosis was observed during the first few days of his life. At 2 to 3 years of age, his parents noted lighter color of the right eye. The right ptosis was gradually improved as he grew older. However, he developed right ptosis again with left meralgia paresthesia since eighteen age. At age 25 years, he was noted to have right ptosis, right miosis (the left pupil measured 4.5 mm in diameter and the right 3.0 mm), right heterochromia iridis with pigmented iris nevi, and left meralgia paresthesia . Laboratory data of urine, blood and CSF as well as radiological studies of chest X-ray, skull X-ray, spine X-ray, brain MRI and spinal cord MRI showed unremarkable. Sweating test was intact, pharmacologic test to Horner's syndrome with 5% cocaine and 1.25% 1-epinephrine indicated that the damage was pointed to the post ganglionic sympathetic neuron. Ten patients with congenital Horner's syndrome reported in Japan since 1953 were reviewed including our case. Ten of eleven were male and Horner's sign was recorded on the left eye in 8 cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An adult case of congenital Horner's syndrome with heterochromia iridis--with special reference to alteration of Horner's sign associated with development]. 269 Nov 67

A case of hemihypertrophy associated with multiple anomalies of the skin, bone and visceral organs is presented. A 31-year-old female was admitted for evaluation of her skin conditions. Her family history is noncontributory, while her past history discloses operations for syndactyly of the right foot, tonsillar hypertrophy, anal prolapse and ovarial cyst. Erythemas of the face and the left upper extremity were noticed during the neonatal period and hypertrophy of the right side of the body started at age 2 months. On admission, hemihypertrophy was observed in the face, trunk and extremities. Multiple faint nevi flammei were seen on the right half of the face and on the left side of the trunk and extremities. Telangiectasis and nevus anemicus were seen in the upper chest. The left upper extremity showed diffuse brown patches that was histologically basal pigmentation with some giant melanosomes. Visceral anomalies consisted of fibromatous tumors of the tip of the tongue and mitral prolapse. Angiography and computed tomography revealed a possible arteriovenous malformation of the right occipital region, small hemangiomas around the patella, dilation of the lateral ventricle, and calcification of the choroid plexus. Tortuous superficial veins were noted in the right leg. She had no seizure, but her IQ was 68. The bone disorders consisted of scoliosis, short forth metacarpus, hypoplastic mandible and peroneal exostosis. Examination revealed a slight diminution of urinary corticosteroid, but no other endocrinological disorders were found. The hemihypertrophy in this case is at least partially due to an arteriovenous shunt, suggested by elevated oxygen saturation of the blood obtained from the internal saphenous vein.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Congenital hemihypertrophy associated with cutaneous pigmento-vascular, cerebral, visceral and bone abnormalities]. 282 Feb 92

Proptosis and ptosis, caused by a large orbital mass that was excised and determined to be malignant melanoma, developed in a 4-year-old girl with congenital neurocutaneous melanosis (multiple large or giant cutaneous nevi associated with abnormal leptomeningeal pigmentation). Shortly thereafter, the patient had evidence suggestive of systemic metastases and died. The orbital tumor was likely metastatic from a primary meningeal melanoma. Other possible sources of metastatic tumor are discussed. It is unlikely that this was a primary orbital melanoma because the patient had no clinical or pathologic manifestations of pre-existing oculocutaneous melanosis, orbital melanosis, or orbital blue nevus.
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PMID:Congenital neurocutaneous melanosis with metastatic orbital malignant melanoma. 380 23

Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.
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PMID:Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata. 395 73

A women presented with a systematized sebaceous nevus of the head and neck. She had developed multiple basal cell carcinomas and sebaceomas in the nevus over the past 3 years after a period of about 55 years without any changes. Detailed medical history and physical examination revealed a constellation of findings suggesting a syndrome. Besides ptosis and a congenital, vascular corneal clouding at the right, there was hypoplasia of the right maxillary sinus, a right labyrinthine deafness and recurrent inguinal herniae on the right. The Schimmelpenning-Feuerstein-Mims-Syndrome was diagnosed.
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PMID:[Systematic sebaceous nevus with multiple secondary tumors as the chief symptom of Schimmelpenning-Feuerstein-Mims syndrome]. 1138 27

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.
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PMID:Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. 1201 1

We report a case of a 13 year old boy with non-familial, multiple blue rubber bleb nevi (BRBN). He also had additional dysmorphic anomalies including a low hairline, low set ears, narrow nares, ptosis, hypotelorism, a high arched palate and downward slanting of the outer canthi. Skeletal deformities included a short, slightly webbed neck, kyphosis, cubitus valgus, non-traumatic luxation of the head of the right radius and a short left little and index fingers. He had no evidence of gastrointestinal lesions or bleeding, congenital heart or renal disease or enchondromata. The boy was mentally slow compared to his peers. He had normal chromosomes. The absence of gastrointestinal bleeding or iron deficiency anaemia is inconsistent with Bean's syndrome and the lack of enchondromata in this patient militates against the diagnosis of classical Maffucci syndrome. Some of his physical features are obviously similar to those observed in a Noonan's syndrome yet the presence of extensive BRBN would be an extremely unusual finding. Since the overall picture does not fit into any of the classical categories mentioned above, the constellation of his features has yet to find a specific syndrome. It may, however, represent an overlap between them or, possibly, a new syndrome.
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PMID:A patient with extensive blue rubber bleb nevi associated with multiple congenital anomalies: an overlap or a new syndrome? 1456 63

Phacomatosis pigmentokeratotica (PP) is a mosaic disorder that represents a distinct epidermal naevus syndrome. Its defining features are an epidermal naevus that is usually of the sebaceous type and a speckled lentiginous naevus arranged in a chequerboard pattern. In addition, there are neurological, ophthalmological and skeletal abnormalities, including limb hemiatrophy with muscular weakness, ptosis, seizures and ipsilateral segmental hyperaesthesia and hyperhidrosis. We report a 44-year-old man with an extensive epidermal naevus and an ipsilateral speckled lentiginous naevus. He also had ipsilateral right leg hypertrophy and a suprasellar dermoid cyst with associated neurological abnormalities. We propose that this case represents an unusual example of PP.
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PMID:Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. 1786 92

The aim of this study was to evaluate ocular findings in children with nonsyndromic cleft lip and palate. Fifty-seven consecutive patients with cleft lip and/or palate seeking orthodontic treatment during 2006 were examined prospectively from an ophthalmological standpoint. Mean age of the patients was 9.2 years (range: 15 days to 18 years). Of the 57 children in total, five cases (8.7%) had cleft lip, six cases (10.5%) had isolated cleft palate and 46 cases (80.7%) had both cleft lip and palate. Thirty-seven of 46 cases with cleft lip and palate were unilateral and 20 were bilateral. Eleven of the 57 patients (19.1%) had ocular findings including congenital nasolacrimal duct obstruction (5 patients), ptosis (1 patient), bilateral iris coloboma (1 patient), dermoid tumor (1 patient), vernal conjunctivitis (1 patient), and esophoria (1 patient). Twenty patients (35%) had one or more systemic abnormalities such as motor mental retardation, hearing loss, syndactylia, growth retardation, double urinary tract, vesicoureteral reflux, penile nevus, hypospadias, non-redundant testis, inguinal hernia, mitral valve prolapsus, ventricular septal defect, complete right bundle branch block, and hirsutism. Though not very often, cleft lip and palate patients may have several associated ocular changes, and these patients should also be examined by ophthalmologists.
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PMID:Ocular findings in children with nonsyndromic cleft lip and palate. 1995 Aug 42

Currently, there is a lack of comprehensive data regarding clinicopathologic characteristics and surgical treatment of divided nevus of the eyelids. Here clinicopathologic features and reconstructive procedures performed on 73 patients were described. We showed that the lesion was randomly located on both eyes with a predominant incidence in females. Affected regions included the following: eyelid only (n = 40, 54.8%); medial canthus involvement (n = 4, 5.5%); medial canthus, caruncle, and bulbar conjunctiva involvement (n = 5, 6.8%); lateral canthus involvement (n = 18, 24.7%); full eyelids (n = 6, 8.2%); and cheek extension (n = 9, 12.3%). Lesions presented as a pigmented macule (n = 18, 24.7%) or mass (n = 55, 75.3%). Ptosis was present in 26 (35.6%) cases leading to visual field defects (n = 9, 12.3%). The puncta were covered in 13 (17.8%) cases. Overall, surgical results were satisfactory. Pathologically, lesions were either intradermal (n = 40, 54.8%), junctional (n = 15, 20.5%), or compound (n = 18, 24.7%). Because of the lack of systemic data regarding the rare entity of divided nevus of the eyelids, this study improves our understanding of this lesion, and it should be treated with individualized reconstructive procedures. Incorporation of pediatric patient population in the future will further extend our knowledge in dealing with this disorder.
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PMID:Clinicopathological characteristics and surgical outcomes of divided nevus of the eyelids: a decade's experience on 73 cases. 2162 3


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