| organoid nevus | Congenital papillary acanthosis of the epidermis, with hyperplasia of sebaceous glands developing at puberty and presence of apocrine glands in non-apocrine areas of the skin (commonly the scalp). A variety of epithelial tumours may arise from a nevus sebaceus in adult life, most commonly basal cell carcinoma. Synonym: Jadassohn's nevus, organoid nevus. (05 Mar 2000) |
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| Ota's nevus | Pigmentation of the conjunctiva and skin around the eye, usually unilateral; seen especially in women of Oriental races. Synonym: Ota's nevus. (05 Mar 2000) |
| epidermic-dermic nevus | A nevus consisting of nests of melanocytes in the basal cell zone, at the junction of the epidermis and dermis, appearing as a slightly raised, small, flat, nonhairy pigmented (brown or black) tumour. Synonym: epidermic-dermic nevus. (05 Mar 2000) |
| epithelioid cell nevus | A benign, slightly pigmented or red superficial small skin tumour composed of spindle-shaped, epithelioid, and multinucleated cells that may appear atypical; most common in children, but also appearing in adults. Synonym: benign juvenile melanoma, epithelioid cell nevus, spindle cell nevus. (05 Mar 2000) |
| Jadassohn's nevus | Congenital papillary acanthosis of the epidermis, with hyperplasia of sebaceous glands developing at puberty and presence of apocrine glands in non-apocrine areas of the skin (commonly the scalp). A variety of epithelial tumours may arise from a nevus sebaceus in adult life, most commonly basal cell carcinoma. Synonym: Jadassohn's nevus, organoid nevus. (05 Mar 2000) |
| Jadassohn-Tieche 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) |
| junction nevus | A nevus consisting of nests of melanocytes in the basal cell zone, at the junction of the epidermis and dermis, appearing as a slightly raised, small, flat, nonhairy pigmented (brown or black) tumour. Synonym: epidermic-dermic nevus. (05 Mar 2000) |
| faun tail nevus | A circumscribed growth of hair of the lumbosacral area, associated with diastematomyelia. (05 Mar 2000) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| abstinence syndrome | <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body. (05 Mar 2000) |
| Achard syndrome | <syndrome> Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear. (05 Mar 2000) |
| Achard-Thiers syndrome | <syndrome> One form of a virilizing disorder of adrenocortical origin in women, characterised by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria. (05 Mar 2000) |
| Achenbach syndrome | <syndrome> Haematoma of the finger pad with accompanying oedema; of unknown cause in the absence of disturbances in blood coagulation mechanisms. (05 Mar 2000) |