1/44. 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 = gland (Clic here for more details about this article) |
2/44. 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 = gland (Clic here for more details about this article) |
3/44. Selective loss of cholinergic sudomotor fibers causes anhidrosis in Ross syndrome.Ross syndrome consists of segmental hyperhidrosis with widespread anhidrosis, adie syndrome, and areflexia. The cause of this disorder is unknown. Selective degeneration of cholinergic fibers or of neural crest-derived structures has been suggested. We present clinical and skin biopsy data of 4 patients, providing evidence of reduced cholinergic sweat gland innervation in hypohidrotic skin by morphometric analysis. These findings indicate a selective degenerative process of the cholinergic sudomotor neurons.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
4/44. The circadian rhythm of body core temperature (CRT) is normal in patient with congenital generalized anhidrosis.The temperature of the human body is not constant during the day, and is related to a double modulation of both homeostatic and circadian processes. The circadian rhythm of body core temperature (CRT) is known to depend on the central mechanism involved in thermoregulatory variations. The role of sweating in the nocturnal fall of body core temperature (BcT) is not clear. We evaluated the CRT in a 45-year-old female with a lack of sweating since birth because of congenital generalized anhidrosis. She referred episodes of heat intolerance when ambient temperature was around 35 degrees C. skin biopsies of both forearms and left axilla revealed atrophy and morphologic changes of eccrine glands. Neurological examination, nerve conduction studies, sympathetic skin response and cardiovascular reflex tests were normal. The study of CRT was performed by monitoring rectal temperature continuously in controlled conditions (ambient temperature 24 /- 1 degrees C and humidity 40-50% in a light-dark schedule). The rhythmometric analysis showed normal 24-hour fluctuations. This case represents an "experiment of nature"demonstrating that the physiological nocturnal fall of BcT is independent of sweating.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
5/44. Acquired idiopathic generalized anhidrosis: a rare cause of heat intolerance.A reduced level or complete cessation of sweating can be caused by a variety of factors affecting sweat glands directly or indirectly through alterations in their nerve supply. The most common presentation is the syndrome of heat intolerance with or without features of dysautonomia. An acquired idiopathic form of generalized anhidrosis is characterized by loss of sweating in the absence of any neurological features or destruction of sweat glands. Cholinergic urticaria has been associated with some cases of this acquired idiopathic form of generalized anhidrosis. A case of generalized absence of sweating without a neurological deficit is described, and the implications of heat intolerance are discussed.- - - - - - - - - - ranking = 2keywords = gland (Clic here for more details about this article) |
6/44. Transient hypohidrosis induced by topiramate.PURPOSE: hypohidrosis during topiramate (TPM) treatment was recently reported in children. We describe an adult epilepsy patient who developed inability to sweat as well as heat intolerance while undergoing treatment with TPM. methods: To detect the site of the sweat block, patient underwent examination of sweat gland function, cardiovascular autonomic test, and body temperature rhythm determination. RESULTS: During TPM treatment, cardiovascular autonomic function and circadian rhythm of body core temperature were normal, whereas thermoregulatory sweat test (TST) showed anhydrosis. This adverse drug effect was quickly resolved after drug discontinuation. CONCLUSIONS: Because of normal cardiovascular autonomic function and central and peripheral thermoregulatory mechanisms, we hypothesize that hypohidrosis during TPM treatment could be due to a carbonic anhydrases (CA) block at the level of sweat gland.- - - - - - - - - - ranking = 2keywords = gland (Clic here for more details about this article) |
7/44. Congenital sensory neuropathy with anhidrosis (hereditary sensory neuropathy type IV).Hereditary sensory neuropathies comprise a group of rare childhood diseases which are classified into four types. We present a Greek boy 11 years old with hereditary sensory neuropathy type IV (congenital sensory neuropathy with anhidrosis) whom we have followed up and studied during the last seven years. Our patient presented for the first time with recurrent hyperthermic episodes without sweating, and lack of pain sensation from the first months of life. Insensitivity to pain and thermal stimuli had resulted in burns on the extremities and self-mutilation of the tongue, lips and fingertips. When he was five and seven years old respectively he had two painless fractures of the ankles which led to insoluble orthopedic problems. He also suffered from mental retardation, which was obvious from his first years of life. Sweat gland investigations showed significant hypohidrosis or anhidrosis although the sweat glands were normal microscopically. Hereditary sensory neuropathy type IV, although rare, is important for dermatologists because it must be differentiated from other anhidrotic syndromes, and in view of the poor prognosis of the condition.- - - - - - - - - - ranking = 2keywords = gland (Clic here for more details about this article) |
8/44. Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography.ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectoderm-derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized. Among them, the hypohidrotic type is the most common form, with an incidence of 1 per 10,000 to 1 per 100,000 live births. This condition, originally known as anhidrotic ectodermal dysplasia because of the notable reduction of sweat gland function, is clinically characterized by hypohidrosis, hypotrichosis, and hypodontia. Most cases are inherited as an X-linked recessive trait, with the gene responsible being mapped to Xq12-q13.1. The autosomal recessive and dominant patterns of inheritance have also been documented. prenatal diagnosis of this condition has been reported previously in high-risk pregnancies on the basis of histologic analysis of fetal skin obtained by second-trimester fetoscopy-guided skin biopsy. dna-based linkage analysis has also made the diagnosis possible with the use of chorionic villi in the first trimester. In this report, we describe noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia in a pregnancy at risk for this condition. The diagnosis was achieved by identification of the distinct facial features at 30 weeks' gestation on three-dimensional (3D) ultrasonography.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
9/44. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple diagnostic tests, and the paucity of cases reported in north america. We describe a 1-year-old infant who had tooth loss and palmar hyperkeratosis as the primary manifestations of CIPA. He was initially evaluated by a pediatric dentist and epidermal dysplasia syndromes were considered, but insensitivity to pain was suspected after a skeletal survey revealed an unrecognized skull fracture. Nerve conduction studies were normal, as was his response to subdermal histamine injection. sequence analysis of his NTRK1 gene revealed 2 mutations: 1 mutation is novel, while the other has been described previously in a patient of northern European descent. An antibody directed against NTRK1 revealed persistent expression in keratinocytes, consistent with the mutations in this patient. skin biopsy specimens revealed a lack of epidermal and sweat gland innervation. immunohistochemistry of skin biopsy specimens, together with routine nerve conduction studies, can provide quick and reliable confirmation if CIPA is clinically suspected.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
10/44. A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.Hypohidrotic ectodermal dysplasia (HED) is a genetic disease characterized by abnormal hair, teeth, and sweat gland development. Although most cases of HED display X-linked recessive inheritance, autosomal dominant and autosomal recessive forms also exist. X-linked HED is caused by mutations in the EDA gene, and the autosomal forms result from mutations in either the EDAR gene or the EDARADD gene. In this study, we identified compound heterozygous mutations in the EDAR gene in a Japanese female patient with HED. On the maternal allele is a novel splice donor site mutation of intron 2 leading to the generation of unstable transcripts with exon 2 skipping; on the paternal allele is a novel R375H transition within the death domain of EDAR. Using expression studies in tissue culture cells, we found that the R375H substitution in EDAR caused loss of its affinity for EDARADD and reduced activation of the downstream target NF-kappaB. Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
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