1/76. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.We report a 2-year-old boy with an unusual autosomal recessively inherited skin disease comprising trauma-induced skin fragility and congenital ectodermal dysplasia affecting hair, nails and sweat glands. Skin biopsy showed widening of intercellular spaces between keratinocytes and ultrastructural findings of small, poorly formed desmosomes with reduced connections to the keratin filament cytoskeleton. Immunohistochemical analysis revealed a complete absence of staining for the accessory desmosomal plaque protein plakophilin 1 (PKP1; band 6 protein). The affected individual was a compound heterozygote for null mutations on both alleles of the PKP1 gene. Both mutations occurred within the amino terminus of PKP1, the domain which normally binds the cytoskeletal keratin filament network to the cell membrane. Apart from its localization within desmosomal plaques, PKP1 may also be present within the cytoplasm and nucleus and has putative roles in signal transduction and regulation of gene activity. The clinicopathological observations in this patient demonstrate the relevance of PKP1 to desmosome formation, cutaneous cell-cell adhesion and epidermal development and demonstrate the specific manifestations of human functional knockout mutations in this gene.- - - - - - - - - - ranking = 1keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
2/76. A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.A nerve growth factor receptor encoded by the TRKA gene plays an important part in the formation of autonomic neurons and small sensory neurons in dorsal root ganglia and in signal transduction through its intracytoplasmic tyrosine kinase domain. Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. We examined the TRKA gene in five generations of a large Japanese family with many consanguineous marriages who live in a small remote island of the southern part of japan. We found a novel point mutation at nucleotide 1825 (A-->G transition) resulting in Met-581-Val in the tyrosine kinase domain. Two of the three affected patients were homozygous for this mutation; however, the third affected patient was heterozygous. Further analysis revealed that the third patient was a compound heterozygote with the Met-581-Val mutation in one allele and with a single base C deletion mutation at nucleotide 1726 in exon 14 in the other allele, resulting in a frameshift and premature termination codon.- - - - - - - - - - ranking = 0.18259391878309keywords = sweat (Clic here for more details about this article) |
3/76. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of unexplained fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. Human TRKA encodes a high-affinity tyrosine kinase receptor for nerve growth factor (NGF), a member of the neurotrophin family that induces neurite outgrowth and promotes survival of embryonic sensory and sympathetic neurons. We have recently demonstrated that TRKA is responsible for CIPA by identifying three mutations in a region encoding the intracellular tyrosine kinase domain of TRKA in one Ecuadorian and three Japanese families. We have developed a comprehensive strategy to screen for TRKA mutations, on the basis of the gene's structure and organization. Here we report 11 novel mutations, in seven affected families. These are six missense mutations, two frameshift mutations, one nonsense mutation, and two splice-site mutations. Mendelian inheritance of the mutations is confirmed in six families for which parent samples are available. Two mutations are linked, on the same chromosome, to Arg85Ser and to His598Tyr;Gly607Val, hence, they probably represent double and triple mutations. The mutations are distributed in an extracellular domain, involved in NGF binding, as well as the intracellular signal-transduction domain. These data suggest that TRKA defects cause CIPA in various ethnic groups.- - - - - - - - - - ranking = 0.18259391878309keywords = sweat (Clic here for more details about this article) |
4/76. Traumatic horner syndrome without anhidrosis.In a patient with a traumatic avulsion of the arm, magnetic resonance imaging showed the exact site of the lesion that produced horner syndrome with preservation of sweating on the face.- - - - - - - - - - ranking = 0.18259391878309keywords = sweat (Clic here for more details about this article) |
5/76. A case of traumatic high thoracic myelopathy presenting dissociated impairment of rostral sympathetic innervations and isolated segmental sweating on otherwise anhidrotic trunk.A 3 year-old boy developed flaccid paraplegia, anesthesia below T3 and impaired vesical control immediately after a car accident. Three months later, the pupils and their pharmacological reactions were normal. Thermal sweating was markedly reduced on the right side of the face, neck, and shoulder and on the bilateral upper limbs, and was absent below T3 except for band like faint sweating on T7 sensory dermatome. The left side of the face, neck and shoulder showed compensatory hyperhidrosis. Facial skin temperature was higher on the sweating left side. Cervico-thoracic MRI suggested almost complete transection of the cord at the levels of T2 and T3 segments. We discussed the pathophysiology of the dissociated impairment of rostral sympathetic innervations and isolated segmental sweating on otherwise anhidrotic trunk.- - - - - - - - - - ranking = 1.4607513502648keywords = sweat (Clic here for more details about this article) |
6/76. Idiopathic acquired anhidrosis: reversible generalized anhidrosis after sunstroke.Idiopathic acquired generalized anhidrosis is a very rare condition in which the pathogenesis is still unknown. Although varied findings have been reported, no consistent abnormal findings in sweat glands have been established by histological study or electronmicroscopic study. An 18-year-old Korean boy suffered from generalized anhidrosis after sunstroke. Physical and neurologic examination could not reveal any abnormal findings. There were no specific changes in the sweat glands, but amorphous vacuole-like structures were seen in the cytoplasm of secretary cells. We reviewed the previous reports about this rare condition and compared them with our patient.- - - - - - - - - - ranking = 2keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
7/76. Localized syringolymphoid hyperplasia with alopecia and anhidrosis.We describe a female patient with a localized form of syringolymphoid hyperplasia with alopecia and anhidrosis (SLHA). This woman is the eleventh patient with this disease so far reported in the literature. She suffered from a slowly but continuously progressing single lesion on her right ankle. It took 7 years until the diagnosis of SLHA could be established. Many divergent diagnoses were assumed and different treatments were performed during this time. The final diagnosis was established by histopathology revealing syringotropic T-cell infiltrates. Clinical features were scattered brownish papules, which formed a sharply demarcated erythematous patch lacking hairs and sweat production. The progressive course of the disease and the unresponsiveness to treatments support the current view that SLHA is a syringotropic variant of mucinosis follicularis and therefore should be viewed as a facultative precursor lesion of mycosis fungoides. In our patient, during a 7-year follow-up, no T-cell lymphoma occurred. This case emphasizes the difficulties of establishing the diagnosis of SLHA, which requires cooperation between the dermatologist and dermatopathologist.- - - - - - - - - - ranking = 0.18259391878309keywords = sweat (Clic here for more details about this article) |
8/76. Raeder's syndrome.Raeder's paratrigeminal syndrome is a disorder manifested by unilateral ptosis, miosis, intact facial sweating, and severe pain in the distribution of the ophthalmic division of the fifth nerve. It is a clinical pattern where, usually, a middle-aged male gets a severe throbbing supraorbital headache accompanied by ptosis and miosis. The headache is intermittently present for several weeks or months. Facial sweating may or may not be affected. This report describes a female with Raeder's syndrome who had unilateral facial anhibrosis.- - - - - - - - - - ranking = 0.36518783756619keywords = sweat (Clic here for more details about this article) |
9/76. sweating in the 'anhidrotic type' of congenital ectodermal dysplasia.Whole body sweat rate in two brothers suffering from congenital ectodermal dysplasia (CED) was measured. At a moderate heat load (DBT 30 degrees C and 50% relative humidity) we found no apparent weight loss due to sweating. At a higher heat load (DBT 36 degrees C, 50% relative humidity) sweating was observed, but only at levels approximately two thirds of those observed in normal controls. In the light of these experimental results, we support the suggestion that the nomenclature for CED patients should be changed. Instead of the present classification of anhidrotic CED and hidrotic CED, it is suggested that the terms hypohidrotic and hidrotic be substituted.- - - - - - - - - - ranking = 0.54778175634928keywords = sweat (Clic here for more details about this article) |
10/76. Ross' syndrome (tonic pupil plus).Two cases of tonic pupil, hyporeflexia, and segmental hypohidrosis (Ross' syndrome) are reported. The relationship of this syndrome to other autonomic dysfunction is discussed. Those symptoms (emotional instability, loss of sweating, orthostatic hypotensive symptoms, and signs of bilaterality of the tonic pupil) which should alert the clinician to more extensive disease states are noted. It is suggested that these conditions may represent a continuum or spectrum of disorders with a widespread degree of severity and progression.- - - - - - - - - - ranking = 0.18259391878309keywords = sweat (Clic here for more details about this article) |
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