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At least 1,495 records · Page 83Linked to original sources
PubMed1996

[Snow white small intestinal villi in hypobetalipoproteinemia].

In contrast to the severe clinical picture of abetalipoproteinemia patients with hypobetalipoproteinemia are often asymptomatic. We demonstrate a 52-years-old female patient with a white mucosa of the small intestine casually observed by endoscopy. The white appearance of the mucosa was limited to the villi. As demonstrated by light and transmission electron microscopy this was caused by fat loaded enterocytes similar to the picture of abetalipoproteinemia. Fasting serum lipids and apolipoproteins were only if the lower norm level for some parameters, but no increase of the serum lipids was observed after an oral fat load. Because of the missing symptoms, the typical histomorphology and laboratory findings the snow white mucosa of the small intestine is due by the hetocygote form of the autosomal dominant hypobetalipoproteinemia with fat loaded enterocytes.

Apolipoproteins↗
PubMed1993

Cutaneous and ocular changes associated with the use of chlorpromazine.

A 57-year-old schizoaffective disorder patient was placed on chlorpromazine because of its sedative properties and low profile for extrapyramidal side effects. After two years of treatment, the patient developed photosensitivity and blue-gray pigmentation of the skin of the face, neck and dorsum of hands. Significant pigment deposits were also observed in eye lens and cornea. An oval translucent lesion lateral to the left angle of the mouth was removed and the biopsy showed a basal cell carcinoma. The cutaneous and eye pigmentation were only partially reversible after the discontinuation of chlorpromazine. There has been no recurrence of basal cell carcinoma.

Basal Cell Carcinoma↗
PubMed1994

Common skin problems during the first year of life.

This article reviews the most common skin problems encountered in the first year of life, not necessarily the most extensive or severe, and is not inclusive of all problems that can be seen at this age. This spectrum of common skin problems includes congenital disorders, infections, infestations, and disorders that may occur in adults as well.

Dermatitis↗
PubMed1999

Erythrosis pigmentosa mediofacialis (Brocq) and erythromelanosis follicularis faciei et colli in the same patient.

Erythrosis pigmentosa peribuccalis (Brocq) (or erythrosis pigmentosa mediofacialis) and erythromelanosis follicularis faciei et colli, have been regarded as different disorders, mainly because the first occurs on the mediofacial area and is common in women and the second mostly occurs pre-auricularly in men. Both conditions show histological signs of abnormal follicular keratinization with teleangiectasia and round cell infiltrate. An increase in the level of melanin has been seen in some patients. We describe here a woman in whom lesions started in the middle of the face and later became evident in the pre-auricular area. This suggests that the two conditions are in fact the same disease. As a neutral term for this not uncommon disorder we propose erythrosis pigmentosa faciei et colli.

Adult↗
PubMed1981

Incontinentia pigmenti: report of case.

A case of incontinentia pigmenti in a 14-year-old girl has been presented. The patient showed classic signs including dermatologic, ophthalmologic, central nervous system, and dental changes. This case also presented a previously unreported occurrence of hemorrhagic bone cyst in the mandible along with ectodermal-mesodermal disorder.

Abnormalities, Multiple↗
PubMedDate not supplied

Clinical features and computer-aided analysis of chromosome aberration in a case with incontinentia pigmenti.

Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. IP belongs to rare diseases involving skin pathological findings, together with neurological and ophthalmological disorders. We here report a two-year old girl with typical symptoms of the IP. A hitherto unreported feature is partial deletion of short arms of one of the chromosomes 15, found in the girl and in her mother. Using an automatic chromosome picture analyzer, a densitometric analysis of the aberration was carried out, in order to determine the break point and to compare the normal and deleted chromosomes.

Chromosome Aberrations↗
PubMed1998

Side effects from the pulsed dye laser: the importance of skin pigmentation and skin redness.

The pulsed dye laser is the treatment of choice for port-wine stains. In this study we evaluate the importance of preoperative skin pigmentation and skin redness for the development of side effects from one treatment with the pulsed dye laser. A risk assessment is performed and skin reflectance measurement objectifies postoperative pigmentary changes. Fourteen human volunteers (skin types I to V) were laser-treated on the inside of the proximal brachium. Photographic documentation was used for blinded, clinical evaluation of side effects 3 and 6 months postoperatively. Skin was artificially reddened using topical application of 10% nicotinic acid cream. The development of pigmentary alterations and texture changes depended on the preoperative pigmentation and redness degrees. The risk of inducing clinically visible pigmentary alterations and texture changes increased with higher preoperative skin pigmentation and redness degrees, and with the application of increasing laser doses. Pigmentary alterations were induced at a lower fluence level than texture changes. The risk of side effects was higher 3 months postoperatively than 6 months postoperatively, substantiating a gradual disappearance of side effects. Skin reflectance measurements documented postoperative hyperpigmentation that faded partially from 3 to 6 months postoperatively. This is the first human experimental model for port-wine stains which provides quantitative data on the relationship between preoperative skin colours and postoperative clinically disturbing side effects.

Administration, Cutaneous↗
PubMed1989

Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis.

A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) excessive somnolence. The unique presentation, however, does differ from Kleine-Levin syndrome and suggests a relationship between the predominantly ectodermal, congenital disorders and the sleep-wake pattern dysfunction.

Child↗
PubMed1979

Ring chromosome 17 in a mentally retarded boy.

A six-year-old boy was found to have a ring chromosome 17. In addition to psychomotor retardation, speech delay and seizure disorders, his abnormal phenotypic features included epicanthal folds, broad depressed nasal bridge, protruding thick upper and lower lips, micrognathia, narrow high arched palate, short fifth fingers with a mild degree of clinicodactyly, multiple café-aui-lait spots, and abnormal dermatoglyphics.

Abnormalities, Multiple↗
PubMed1984

Reversible hepatic black pigmentation and enzyme alteration induced by prolonged feeding of high dose of crocin dyes in rats.

Crocin dyes, isolated from Gardenia jasminodes, did not affect hepatic function when they were orally administered to rats in a daily dose of 50 mg/kg for 8 days, but could induce acute hepatic discoloration. A high dosage of 100 mg/kg for 2 weeks could induce both hepatic damage and black pigmentation, but a lower dose of 100 mg/kg for 40 days did not. Rats fed on diet containing 1% of crocin dyes for four months were shown to have mild hepatic functional disorders and pigmentation. The black pigmentation of the liver and the acute hepatic damage associated with the discoloration were completely reversible. During the period of hepatic pigmentation caused by high dose of crocin dyes, the urine had abnormally increased porphyrin excretion and tended to display a blackish green color. The skin also appeared purplish black. The mechanism of black pigmentation seemed to correlate with the gradual accumulation of crocin dyes. In summary, the crocin dyes have a very low toxicity in rats even in high experimental dosage which would hardly happen in human practice. It is therefore suggested that the crocin dyes are safe for coloring foods.

Administration, Oral↗