Sweat pore counts in ectodermal dysplasias

Manifestation of the lines of Blaschko in women heterozygous for X‐linked hypohidrotic ectodermal dysplasia

“…Female carriers are in general either free of clinical signs and symptoms or only mildly affected. Second, the density of sweat pores may vary among normal individuals, and a low mean number may lead to false positive results (Kleinebrecht et al 1981). In heterozygous women sweat testing may reveal a fine pattern of mosaic distribution of sweat pores on the fingertips and the palms (Kerr et al 1966, Passarge & Fries 1973, Pinheiro & Freire-Maia 1979a, Laurent & Fontaine 1981.…”

“…Carrier detection by physical examination is often difficult (Pinheiro & Freire-Maia 1979b). Counting in only a few areas may lead to false negative results (Kleinebrecht et al 1981). The value of this test, however, is limited by the following facts: First, due to temporary functional differences of sweat glands a patchy pattern may also be present in normal individuals.…”

Generalised anhidrosis: different lesion sites demonstrated by microneurography and skin biopsy

“…16 Clinical and laboratory findings thus indicated that patient 2 had CED selectively involving the eccrine glands. 2 The normal cardiovascular reflexes and MSNA findings in both patients excluded a more diffuse involvement of the autonomic nervous system, rarely described in GA. 18 In conclusion, microneurography associated with morphological analysis of sweat glands and their innervation proved reliable diagnostic tools in detecting the site of the autonomic dysfunction responsible for GA in our patients, and in differentiating between a postganglionic autonomic nerve fibre lesion and sweat gland dysfunction.…”

“…G eneralised anhidrosis (GA) is a rare congenital or acquired disease characterised by heat intolerance and loss of sweating, and may be associated or not with autonomic peripheral neuropathies. [1][2][3][4][5] The clinical picture in GA is uniform, whether pathogenesis involves intrinsic sweat gland abnormalities 2 6 or postganglionic sympathetic cholinergic nerve dysfunction. 3 5 Laboratory studies are therefore needed to localise the specific lesion site.…”

The circadian rhythm of body core temperature (CRT) is normal in patient with congenital generalized anhidrosis

“…Primary anhidrosis is a congenital ectodermal dysplasia with anomalies of the sweat glands which may be associated with hair, skin, or dental abnormalities. This syndrome is clinically characterized by thermoregulatory disturbances due to lack of sweating and heat intolerance, with a risk of hyperthermia or heat stroke [2][3][4].…”