Cases reported "Hypohidrosis"

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1/160. Unsuccessful surgical treatment of hip dislocation in congenital sensory neuropathy with anhidrosis. A case report.

    A six-year-old girl with congenital sensory neuropathy with anhidrosis (CSNA) presented with bilateral hip dysplasia and subluxation on the right side. Conservative treatment of the hips by closed reduction and a plaster cast was unsuccessful. When aged seven years the patient had an intertrochanteric varus rotation osteotomy on the right side, but subluxation was again evident after five months. A Salter-type pelvic osteotomy was carried out followed by immobilisation, but one year later subluxation was present in the right hip and dislocation in the left. At the age of nine years, the right femoral head resembled a Charcot joint, although walking ability was preserved. In patients with CSNA, surgery may not always be advisable. ( info)

2/160. 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. ( info)

3/160. 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. ( info)

4/160. 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. ( info)

5/160. 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. ( info)

6/160. Cardiac sympathetic denervation in Ross syndrome demonstrated by MIBG-SPECT.

    We investigated cardiac sympathetic innervation by metaiodobenzylguanidine (MIBG) imaging in a patient with tonic pupils, loss of tendon reflexes, and segmental anhidrosis (Ross syndrome). Despite normal cardiovascular reflex tests, we observed a reduced global myocardial MIBG uptake as well as a regional uptake defect over the posterolateral cardiac territory indicating left ventricular peripheral sympathetic denervation. MIBG imaging seems to be a useful noninvasive diagnostic method for detection of early--possibly subclinical--cardiac autonomic impairment in Ross syndrome and provides further evidence of injury to postganglionic autonomic neurons as the underlying pathological mechanism of the disease. ( info)

7/160. Congenital insensitivity to pain with anhidrosis: a case report.

    Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA. ( info)

8/160. 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. ( info)

9/160. 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. ( info)

10/160. Sporadic Bazex-Dupre-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia.

    BACKGROUND: We present the case of a 32-year-old woman with a large recurrent multifocal basal cell carcinoma on the scalp. Conspicuous accompanying symptoms were multiple periorbital milia, hypotrichosis of the body and the scalp, and hypohidrosis. The sparse hair of the scalp showed further abnormalities such as pili torti, as well as flattened, irregularly curly hairs. OBJECTIVE: In 1964, Bazex et al. described a syndrome characterized by congenital hypotrichosis, follicular atrophoderma, and basocellular neoplasms that included basal cell nevi and early onset basal cell carcinomas. The Bazex-Dupre-Christol syndrome is a rare X-linked dominant disease. A sporadic occurrence with the typical constellation of these symptoms has not yet been reported. The lack of a positive family history and no signs of follicular atrophoderma argues for a sporadic occurrence of a Bazex-Dupre-Christol-like syndrome. The case reported shares several features with the classic Bazex-Dupre-Christol syndrome. CONCLUSION: Our report documents the necessity to look for early development of basal cell carcinomas in patients who show signs of the epidermal malformations described. ( info)
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