| albinism, oculocutaneous | Heterogeneous group of autosomal recessive disorders comprising at least four recognised types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. (12 Dec 1998) |
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| cephalo-oculocutaneous telangiectasia | An angioma involving the skin of the face, orbit, meninges, and brain. See: Sturge-Weber syndrome. (05 Mar 2000) |
| oculocutaneous | Relating to the eyes and the skin. (05 Mar 2000) |
| oculocutaneous albinism | An autosomal recessive deficiency of pigment in skin, hair, and eyes; in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, there is normal tyrosinase which cannot enter pigment cells; it is transmitted by an autosomal recessive inheritance. The compound heterozygote is normal so the two forms are not allelic. There are several types: type IA is characterised by absence of tyrosinase with life-long complete absence of melanin, marked photophobia, and nystagmus. Type IB, yellow albinism with low or absent tyrosinase; improves with age. Type II, with normal tyrosinase activity is the most common; hair darkens and nevi and freckles develop. Type III is characterised by absent tyrosinase but pigmentation of the iris in the first decade. Type IV in Africans with normal tyrosinase. Type V with red hair. Type VI, Hermansky-Padlak syndrome, with haemorrhage due to platelet deficiency and low to absent tyrosinase. Synonym: Hermansky-Pudlak syndrome type VI. (05 Mar 2000) |
| oculocutaneous syndrome | <syndrome> Bilateral uveitis with iritis and glaucoma, premature graying of the hair, and alopecia, vitiligo, and dysacusia; related to Harada's syndrome and sympathetic ophthalmia. Synonym: oculocutaneous syndrome, uveocutaneous syndrome. Origin: Cecile and Oscar Vogt (05 Mar 2000) |
| acquired nevus | A melanocytic nevus that is not visible at birth, but appears in childhood or adult life. (05 Mar 2000) |
| balloon cell nevus | A nevus in which many of the cells are large, with clear cytoplasm. (05 Mar 2000) |
| basal cell nevus | A hereditary disease noted in infancy or adolescence, characterised by lesions of the eyelids, nose, cheeks, neck, and axillae, appearing as uneroded flesh-coloured papules, some becoming pedunculated, and histologically indistinguishable from basal cell epithelioma; also noted are punctate keratotic lesions of the palms and soles; the lesions usually remain benign, but in some cases ulceration and invasion occur and are evidence of malignant change; autosomal dominant inheritance. (05 Mar 2000) |
| basal cell nevus syndrome | <syndrome> An inherited group of defects which involve abnormalities of the skin, eyes, nervous system, endocrine, glands and bones. The condition is characterised by an unusual facial appearance and a predisposition for skin cancer. (27 Sep 1997) |
| bathing trunk nevus | These large pigmented (often hairy) congenital nevi are important because of their increased risk (10 to 15%) of conversion into malignant melanoma. A biopsy can confirm if cells have turned malignant. Any change in a pre-existing nevus should prompt a physician evaluation. (27 Sep 1997) |
| Becker's nevus | A nevus first seen as an irregular pigmentation of the shoulders, upper chest, or scapular area, gradually enlarging irregularly and becoming thickened and hairy. Synonym: pigmented hair epidermal nevus. (05 Mar 2000) |
| blue nevus | A dark blue or blue-black nevus covered by smooth skin and formed by heavily pigmented spindle-shaped or dendritic melanocytes in the reticular dermis. Synonym: Jadassohn-Tieche nevus. (05 Mar 2000) |
| blue rubber bleb nevus syndrome | <radiology> Bean syndrome, sporadic (some autosomal dominant), rubbery, raised blue-black skin nevi (cavernous haemangiomata, 0.1 - 5 cm), GI mucosal haemangiomata, bowel: polypoid filling defects of varying sizes, visceral haemangiomata (by angio) associated with: leukaemia, medulloblastoma, hypernephroma, Mafucci syndrome More info: blue rubber bleb nevus syndrome (12 Dec 1998) |
| capillary nevus | Capillary haemangioma of the skin. (05 Mar 2000) |
| verrucous nevus | A skin-coloured or darker wartlike, often linear, lesion appearing at birth or early in childhood, and occurring in various sizes and locations, single or multiple. (05 Mar 2000) |