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Results for “PIGMENTATION DISORDERS”

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At least 19 recordsLinked to original sources
PubMed2003

Human and mouse disorders of pigmentation.

Disorders of pigmentation were among the first genetic diseases ever recognized because of their visually striking clinical phenotypes, resulting from defects of pigmentary melanocytes. Recent years have seen remarkable progress in understanding these diseases, largely as a result of the systematic parallel study of human patients and inbred mice with similar phenotypes. Our understanding of disorders of pigmentation indicates that these diseases may be most usefully considered as abnormalities of melanocyte development, function, or survival.

Animals↗
PubMed1994

[Pigmentation disorders in systemic sclerodermia].

Skin pigmentation changes in systemic sclerosis have been known since the end of the last century. Many different aspects have been described. We report the case of a 48-year-old man with severe progressive systemic sclerosis who presented many different types of pigmentation changes of skin, but particularly a severe hyperpigmentation. This clinical observation suggests that local factors, including repetitive friction, trauma or variations in skin temperature, may influence the development, distribution and severity of pigmentation abnormalities in patients with systemic sclerosis. Physical treatments (connective tissue massage and lymphatic drainage) were very beneficial for our patient (healing of skin ulcerations and decrease of pigmentation.

Drainage↗
PubMedDate not supplied

High-frequency hearing and reflex latency in patients with pigment disorder.

PURPOSE: To investigate the activities of inner ear melanin in patients with pigment variations and disorders. Our purpose was to find evidence on the effects of melanin-containing cells by measuring the high-frequency threshold and the latency of stapes reflex in patients with vitiligo. PATIENTS AND METHODS: Twenty-nine patients with active vitiligo and 41 healthy subjects were included in this study. Pure tone thresholds were determined at frequencies between 250 and 16,000 Hz. Ipsilateral and contralateral stapes reflexes were measured at 1,000, 2,000, and 4,000 Hz. After we compared the results in the control and vitiligo groups by using the Mann-Whitney U test for each frequency, we compared women and men separately to eliminate gender differences. RESULTS: Pure tone thresholds of the vitiligo group were significantly lower than the control group at 4,000, 6,000, 8,000 and 10,000 Hz (P < .05). The statistically different thresholds were 8,000 and 10,000 Hz in women, compared with 4,000, 6,000, 8,000, 10,000, 12,500, and 16,000 Hz in men (P < 0.05). Reflex latencies for the two groups were not statistically different. CONCLUSION: Vitiligo, which is a type of pigment disorder, seems to be an effective factor in hearing loss, and men are more susceptible to it than women. The mechanism for this condition might be the absence of the preventive function of melanin-containing cells in the inner ear.

Adult↗
PubMed1980

Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.

Three siblings in a Jordanian family presented with a distinctive syndrome consisting of disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. Sural nerve biopsy revealed axonal degeneration and skin biopsy showed abnormal epidermal pigmentation. Skin fibroblast repair studies were normal. No underlying biochemical defect has been found in this previously undescribed neurocutaneous syndrome.

Adolescent↗
PubMed1991

Melanin pigmentation disorders of the skin and oral mucosa.

Pigmented lesions in brown, blue-black, or variations of these colors are relatively rare in the oral cavity but very common in the skin and can range from absolutely benign to highly malignant. The differential diagnosis of brown and blue-black lesions of the oral cavity includes normal racial pigmentation, melanosis, nevi, melanoma, amalgam tattoos, and disorders related to the blood or blood vessels.

Adolescent↗