Hypohidrotic ectodermal dysplasia in females

The authors report a female with full-blown hypohidrotic ectodermal dysplasia and survey the literature concerning cases of the complete syndrome in females. The condition is ordinarily inherited as an X-linked recessive trait but evidence suggests that other patterns of inheritance may occur. There are several examples of probable autosomal recessive inheritance. The syndrome appears to be an example of genetic heterogeneity.This study was made possible in part by U.S.P.H.S. Program Grant in Oral Pathology, DE-1770.     

Unilateral loss of facial flushing and sweating with contralateral anhidrosis: Harlequin syndrome or Adie's syndrome?

A 45-Year-Old woman presented with a 10 year history of asymmetrical facial flushing and sweating after exertion or in hot weather. During these episodes the right side of her face remained dry and white, while the left side normally flushed. Sweating was impaired on the left side in the limbs and trunk. She also had areflexia in the lower limbs and slow pupillary reactions to light and darkness, as seen in Adie's syndrome. The topography of the sweating disorder suggested that the lesion involved the sympathetic pathways at the level of spinal cord. The relationship with the harlequin syndrome and related disorders is discussed.     

托吡酯引起泌汗障碍的多中心研究及危险因素分析

目的探讨托吡酯治疗中出现泌汗障碍的临床特点及相关危险因素。方法回顾全国托吡酯上市后疗效和安全性监测多中心观察的10106例癫痫患者的临床资料,分析泌汗障碍的发生率、临床特点及危险因素。结果378例(3.74%)发生泌汗障碍,儿童发生率(5.50%)显著高于成人(0.37%)(P<0.05)。性别、发作频率、是否加用其他抗癫痫药物及疗效并不影响泌汗障碍的发生,而低龄、剂量较高者在夏季较易出现此种不良反应。儿童患者各年龄组内,泌汗障碍患者与未发生泌汗障碍者的平均剂量均无明显差异。结论泌汗障碍在托吡酯治疗的儿童患者中较为常见,应积极预防并予以相应处理。夏季和低龄是发生泌汗障碍的危险因素,而剂量并不是发生泌汗障碍的主要影响因素。     

Idiopathic generalized anhidrosis with absence of sweat glands: A case report and literature review

Idiopathic generalized anhidrosis is a rare disease characterized by sweating impairment despite exposure to heat or exercise. It could be congenital or acquired. We reported a 22-year-old male with generalized anhidrosis, except axillae, forehead, palms and soles, since infancy. No other systemic abnormalities were found. Histopathology of serial sections revealed lack of sweat glands. It is the first case report of idiopathic generalized anhidrosis with absence of sweat glands in Taiwan.     

Intraindividual variations of 8-methoxypsoralen plasma levels

Summary In 54 cases of dermatophytosis, sweat gland disturbances and their possible mechanisms were studied. The basic perspiratory malfunction was intense hypohidrosis, with some hyperhidrotic phenomena being observed at particular points of the exanthem (margin and disc) in a few cases. It is worth noting that in 51.85% of the cases, hypohidrotic phenomena were also observed in areas of normal skin adjacent to the lesions. One of the most important forms of perspiratory disturbances was the closure of sweat ducts at the keratin level. The inflammatory process in the dermis may also affect gland function. Finally, there is a discussion of the significance of perspiratory disturbances in relation to special aspects of the disease.Presented at the Congressus Tertius Dermatologiae Bulgaricae, Plovdiv 9–10 May, 1980     

托吡酯治疗癫癎时出现的泌汗障碍的临床分析

目的 研究托吡酯(TPM)治疗中出现泌汗障碍的临床特征。方法 对TPM治疗癫癎239例中出现泌汗障碍的发生率、出现时间、临床特征、管理方法及预后进行研究。结果 ①泌汗障碍的发生率为15.1％(36/239),12岁及以下年龄组发生率为23.1％,12岁以上组为2.2％;②泌汗障碍表现为少汗,皮肤干燥,运动不能耐受、发热,夏季症状突出;③泌汗障碍多在加量期后期出现;④泌汗障碍症状较轻,多为暂时性,一般无需停药,但宜减缓加量速度或减少用药量,改善周围环境温度,避免剧烈运动。⑤解热药无助于发汗,停用TPM后泌汗障碍症状可消失。结论 与TPM相关的泌汗障碍均为全身性,年龄为泌汗障碍发生的相关因素。     

Harlequin syndrome in childhood - Case report

Harlequin syndrome happens in only one side of the face. In the affected half, the face does not sweat or flush even with simulation. Arms and trunk could also be affected. This condition is induced by heat, exercise and emotional factors. The article reports a case of a nine-year-old female with a 3-year history of unilateral flushing and sweating after exercise; a brief literature review is included. Despite the rarity of this syndrome, dermatologists should recognize this condition and refer these patients to ophthalmological and neurological examination.     

Syndrome in question

Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie''s tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years.     

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia

The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Altered gene expression is not limited to the ectoderm but a concomitant effect on developing mesenchymal structures, with modification of ectodermal–mesenchymal signaling, takes place. The two major categories of ED include the hidrotic and hypohidrotic form, the latter more frequent; they differentiate each other for the presence or absence of sweat glands.     

Prosthodontic Management of a Child with Ectodermal Dysplasia: A Case Report

Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. Children with ectodermal dysplasia may have various manifestation of the disease that differ in severity and may or may not involve teeth, skin, hair, nails, sweat glands and sebaceous glands. The most common form of the ectodermal dysplasia syndrome is hypohidrotic ectodermal dysplasia and is usually inherited as an X-linked recessive trait. Female carriers may have a variable degree of clinical manifestations. This case report discusses the management of a 5-year-old girl with ectodermal dysplasia. Clinical management consisted of fabricating upper and lower dentures to help in psychosocial development and to restore the vertical dimension, esthetics and functioning of the stomatognathic system.