1/72. A case of hypohidrotic ectodermal dysplasia.Hypohidrotic ectodermal dysplasia (HED) is a rare, hereditary, congenital disease that affects several ectodermal structures. It is characterised by the following: anhidrosis or hypohidrosis, dental abnormalities, hypotrichosis, and a characteristic facies. The face shows prominent frontal bosses, supraorbital ridges and depressed bridges. We experienced a case of hypohidrotic ectodermal dysplasia in a 43-year-old male who had four characteristic features. A skin biopsy from the palm showed a total absence of the eccrine glands. The diagnosis was made on the basis of clinical features and skin biopsy findings.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/72. 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 = 393.21469181689keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
3/72. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.- - - - - - - - - - ranking = 393.21469181689keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
4/72. Hidrotic ectodermal dysplasia with corneal involvement.BACKGROUND: persons with ectodermal dysplasias classically have defects in hair, teeth, nails, and sweat glands. Other tissues derived from ectoderm may also be involved. Ocular involvement in ectodermal dysplasias primarily occurs in anhidrotic forms. methods: We describe a father and son with hidrotic ectodermal dysplasia. RESULTS: Both patients had recurrent corneal epithelial defects from birth, corneal neovascularization, and strabismus. The father had cataracts with crystalline and amorphous inclusions at an early age. Both patients also had alopecia and skin abnormalities. CONCLUSIONS: A father and son with a previously unreported hidrotic ectodermal dysplasia and unusual corneal findings are described.- - - - - - - - - - ranking = 393.21469181689keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
5/72. Hereditary hypodontia and onychorrhexis of the fingernails and toenail koilonychia: Witkop's tooth-and nail syndrome.The tooth-and-nail syndrome (Witkop's syndrome) is a rare autosomal dominant ectodermal dysplasia manifest by defects of the nail plates of the fingers and toes and hypodontia with normal hair and sweat gland function. We report a thirteen year-old girl who presented with marked longitudinal ridging of the nail plates of all ten fingers. The toenails were mildly ridged with koilonychia. Her mother's fingers were similarly affected to a lesser degree while her toenails appeared normal. Examination of the child's dentition revealed a hyperplastic frenulum and the absence of one of the usual four mandibular incisors. history provided by the mother described the maternal grandmother and maternal great aunt as having identical nail findings and the presence of only three lower incisors. hair examination was normal in the mother and child, and no history or findings of sweat gland dysfunction was present. This report describes familial hypodontia, fingernail onychorrhexis, and toenail koilonychia consistent with Witkop's syndrome.- - - - - - - - - - ranking = 786.42938363377keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
6/72. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist. We have studied males from four families with HED and immunodeficiency (HED-ID), in which the disorder segregates as an X-linked recessive trait. Affected males manifest dysgammaglobulinemia and, despite therapy, have significant morbidity and mortality from recurrent infections. Recently, mutations in IKK-gamma (NEMO) have been shown to cause familial incontinentia pigmenti (IP). Unlike HED-ID, IP affects females and, with few exceptions, causes male prenatal lethality. IKK-gamma is required for the activation of the transcription factor known as "nuclear factor kappa B" and plays an important role in T and B cell function. We hypothesize that "milder" mutations at this locus may cause HED-ID. In all four families, sequence analysis reveals exon 10 mutations affecting the carboxy-terminal end of the IKK-gamma protein, a domain believed to connect the IKK signalsome complex to upstream activators. The findings define a new X-linked recessive immunodeficiency syndrome, distinct from other types of HED and immunodeficiency syndromes. The data provide further evidence that the development of ectodermal appendages is mediated through a tumor necrosis factor/tumor necrosis factor receptor-like signaling pathway, with the IKK signalsome complex playing a significant role.- - - - - - - - - - ranking = 393.21469181689keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
7/72. 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 = 107.25250951134keywords = sweat (Clic here for more details about this article) |
8/72. osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and characteristic features of anhidrotic ectodermal dysplasia with sparse hair, facial dysmorphy, delayed eruption of teeth, and sweat gland abnormalities. He died at 18 months of severe immunodeficiency with multiple infections caused by Gram-negative (salmonella enteritidis) and Gram-positive (streptococcus pneumoniae) bacteria, nontuberculous mycobacteria (mycobacterium kansasii), and fungi (pneumocystis carinii). His 30-year-old mother's medical history, together with residual cutaneous lesions, was highly suggestive of IP without neurologic impairment. In this patient with OL-EDA-ID, we detected the same NF-kappaB essential modulator stop codon hypomorphic mutation identified in the previous patient. The occurrence of the same clinical features in 2 unrelated patients with the same genotype demonstrates that OL-EDA-ID is a genuine clinical syndrome. The clinical and biological descriptions of the proband and his mother further corroborate the relationship between IP and EDA. Both syndromes are allelic and are associated with mutations in NF-kappaB essential modulator, with a genotype-phenotype correlation in hemizygous males. In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females.- - - - - - - - - - ranking = 393.21469181689keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
9/72. Nasopharyngeal rhabdomyosarcoma in a patient with hypohidrotic ectodermal dysplasia syndrome.Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) is characterized by partial or complete absence of sweat glands, hypotrichosis, hypodontia, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair. While association of other ectodermal dysplasia syndromes with tumors such a non-Hodgkin's lymphoma, hamartoma, keratoakanthoma, Merkel-cell cancer, squamous-cell carcinoma, syringofibroadenomatosis has been reported, association of hypohidrotic ectodermal dysplasia and a tumor has not been reported. In a five-year-old male patient admitted with nasal obstruction and nasal mass complaints, we have reported firstly an association of hypohidrotic ectodermal dysplasia and nasopharyngeal rhabdomyosarcoma.- - - - - - - - - - ranking = 393.21469181689keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
10/72. Hypohydrotic ectodermal dysplasia: an unusual presentation and management in an 11-year-old Xhosa boy.ectodermal dysplasia (ED) is an inherited disorder in which two or more ectodermally derived structures fail to develop, or are abnormal in development. Hypohydrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome, is an X-linked recessive syndrome with an incidence of 1/10,000 to 1/100,000 births. Because of its X-linked inheritance pattern, it is more common in males. HED is characterised by hypohydrosis (diminished perspiration), hypotrichosis (decreased amount of hair) and microdontia (small teeth), hypodontia (lack of development of one or more teeth) or adontia (total lack of tooth development). These patients present diagnostic and treatment challenges because of variable oral manifestations. This report describes an 11-year-old Xhosa boy, who was referred to the University Dental faculty by his general medical practitioner because of hypodontia. General facial features included: frontal bossing, a depressed nasal bridge, 'butterfly' pattern of eczema over the nasal bridge to the malar process of each cheek, thinned out hair, loss of vertical dimension of face and dry skin. Intra-oral examination revealed hypodontia with peg-shaped anterior teeth and diastemas. Radiological examination revealed no developing permanent teeth or tooth buds. diagnosis was confirmed by doing a sweat gland count. Management included oral hygiene instruction, fluoride treatments, construction of a partial lower denture and counselling about his condition with particular reference to the danger of hyperthermia and control of allergies.- - - - - - - - - - ranking = 393.21469181689keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
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