Cases reported "Hypohidrosis"

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1/66. 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.
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ranking = 1
keywords = dysplasia
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2/66. 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.
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ranking = 3500.8249714495
keywords = ectodermal dysplasia, dysplasia
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3/66. 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.
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ranking = 0.00012833274814548
keywords = defect
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4/66. 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.
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ranking = 0.00012833274814548
keywords = defect
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5/66. 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.
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ranking = 527.52510599345
keywords = anhidrotic
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6/66. anodontia with hypohidrotic ectodermal dysplasia in a young female: a case report.

    A five-year-old Japanese girl was referred to our clinic for non-eruption of the teeth. Panoramic radiographs revealed absence of all teeth of both primary and permanent dentitions. She showed hypotricosis, hypohidrosis, and anodontia. In this article, the reported cases of anodontia were reviewed and the fabricating procedure of full dentures for a young child was described.
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ranking = 2800.6599771596
keywords = ectodermal dysplasia, dysplasia
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7/66. Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.

    Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive disorder, is characterized by insensitivity to pain, self-mutilating behaviour, anhidrosis and recurrent hyperpyrexia. It is a hereditary sensory and autonomic neuropathy, also classified as HSAN, due to a defect of the receptor for nerve growth factor. CIPA is the first human genetic disorder caused by a defect in the neurotrophin signal transduction system. This is the first clinical report of CIPA patients characterized on molecular grounds. The clinical phenotypes of our patients show that CIPA is characterized by a multisystem involvement besides the nervous system, including bone fracture with slow healing, immunologic abnormalities, such as low response to specific stimuli, chronic inflammatory state ending in systemic amyloidosis. The molecular characterization allows a better understanding of most of the clinical features.
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ranking = 0.00025666549629096
keywords = defect
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8/66. Congenital insensitivity to pain with anhidrosis. Report of a case and review of the literature.

    In a previous paper published in this journal, we reported two cases of "Congenital Sensory Neuropathy with Anhidrosis" with reference to the orthopedic complications (Theodorou et al., 1985). We now present a new typical case, under the currently used term: "Congenital Insensitivity to pain with Anhidrosis" (CIPA) and a brief review of the literature on the incidence, etiology and problems arising in various systems. CIPA is an autosomal recessive form of sensory neuropathy manifesting with typical clinical features. Universal insensitivity to pain, anhidrosis or hypohidrosis, bouts of hyperpyrexia from very young age, self inflicted injuries, defective or absent lacrimation and mental retardation are specific diagnostic findings. Orthopedic, maxillofacial, dermatological and ophthalmologic complications are common. counseling of the family and school personnel for the prevention of injuries is necessary. early diagnosis is very important for the prevention and treatment of various complications. The etiology and pathogenesis of the condition is still unclear. The recent detection of a new gene, which encodes a receptor tyrosine kinase for nerve growth factor and lately of a specific point mutation associated with the gene inactivation11, may open new ways for the study and management of this disabling condition.
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ranking = 0.00012833274814548
keywords = defect
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9/66. Hypohidrotic ectodermal dysplasia--a case report.

    A case presented here is that of a nine year old male patient with total anodontia. Findings of this case as regards to the orofacial, radiographic and other general manifestations were suggestive of hypohidrotic ectodermal dysplasia. The dental problems were best managed by prosthetic replacement of dentition taking into consideration a design which would provide adequate relief for the preservation of the ridges which were thin and underdeveloped to the absence of teeth.
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ranking = 3500.8249714495
keywords = ectodermal dysplasia, dysplasia
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10/66. incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

    Familial incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (nf-kappa b Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months.
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ranking = 3500.8249714495
keywords = ectodermal dysplasia, dysplasia
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