1/194. 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 = congenita (Clic here for more details about this article) |
2/194. A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy, focal non-epidermolytic palmoplantar keratoderma and variable features of oral leukokeratosis and follicular keratosis. Previously, we have shown that this disease can be caused by mutations in type I keratin K16 and one mutation has been reported in its type II keratin expression partner, K6a. mutation analysis for K6a has been hampered by the presence of multiple copies of the K6 gene in the human genome, of which some are expressed and others are pseudogenes. Here, we describe a mutation detection strategy where the entire KRT6A gene, approximately 7 kb, is specifically amplified by long-range PCR. Using this technique, we have detected two novel mutations in the 1A domain of the K6a polypeptide, N171K and F174S. Mutations were confirmed in the affected individuals and were excluded from 50 unaffected unrelated individuals by restriction enzyme analysis of KRT6A PCR products. Additionally, mutation N171K was confirmed by RT-PCR in mRNA derived from lesional palmoplantar epidermis of an affected individual, confirming the specificity of the genomic PCR for the functional K6a gene. This, together with a similar strategy which we have developed for the K16 gene, provide a robust system for mutation detection and prenatal diagnosis for patients with PC-1.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
3/194. Identification of sporadic mutations in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: further evidence for a mutational hot spot.pachyonychia congenita (PC) is a rare, autosomal dominant, ectodermal dysplasia characterized most distinctly by the presence of symmetric nail hypertrophy. In the Jadassohn-Lewandowsky form, or PC-1, additional cutaneous manifestations may include palmoplantar hyperkeratosis, hyperhidrosis, follicular keratoses, and oral leukokeratosis. Mutations have previously been identified in the 1A helix initiation motif of either keratin 6 or keratin 16 in patients with PC-1. In the current study, we have identified 2 sporadic, heterozygous mutations in the 1A helix region of the K6 isoform (K6a). The first mutation identified was a 3 base pair deletion (K6adelta N171). The second mutation was a C-to-A transversion resulting in an amino acid substitution (K6a N171K). These data, in combination with previous reports, provide further evidence that this location is a mutational hot spot.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
4/194. 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 = congenita (Clic here for more details about this article) |
5/194. The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases.Two children are described with the combination of aplasia cutis congenita (ACC) and transverse limb defects known as Adams-Oliver syndrome. Whereas in the first child the typical features of ACC, syndactyly and transverse nail dystrophy were only mildly expressed and associated defects of the central nervous system and cardiac malformations were absent, the second child suffered from a very severe expression of the syndrome, with a combination of ACC, syndactyly, cutis marmorata telangiectatica congenita and multiple cardiac and central nervous system malformations which resulted in fatal central respiratory insufficiency.- - - - - - - - - - ranking = 2keywords = congenita (Clic here for more details about this article) |
6/194. radius hypoplasia, radial palsy, and aplasia cutis due to amniotic band syndrome.amniotic band syndrome is one of the many causes of aplasia cutis congenita. It is usually seen as a constriction band surrounding a limb or as a membrane that adheres to some part of the body. This syndrome can be associated with various malformations. An infant with amniotic adhesions producing aplasia cutis, radial palsy, and hypoplasia of the radius is presented. Early treatment led to total functional recovery of the affected limb.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
7/194. Severe congenital absence of skin in a preterm infant.A severe case of aplasia cutis congenita in a preterm infant is described. Although major problems with thermoregulation and fluid balance were anticipated, these parameters were relatively easy to control once the patient was stabilized. Meticulous skin care and rapid formation of a membranous-like fibrous tissue layer covering the denuded areas probably played an important role in minimizing excessive fluid and heat loss. The prognosis in aplasia cutis congenita is determined by the underlying associated anomalies, the severity of skin lesions and, in our case, the maturity of the infant who died from complications of prematurity.- - - - - - - - - - ranking = 6keywords = congenita (Clic here for more details about this article) |
8/194. Aplasia cutis congenita--etiological relationship to antiphospholipid syndrome?A case of aplasia cutis congenita is reported. The mother suffered from antiphospholipid syndrome and a possible etiological relationship between this and aplasia cutis congenita is discussed.- - - - - - - - - - ranking = 6keywords = congenita (Clic here for more details about this article) |
9/194. Aplasia cutis congenita associated with fetus papyraceous.This report describes a healthy infant born with an isolated, truncal cutis aplasia defect in association with a fetus papyraceous. Effective healing of the cutaneous defect occurred over the course of a month. A 2-year follow-up demonstrate stable wound coverage. This rare association of aplasia cutis congenita, with a fetus papyraceous points most likely to the vascular causation of the cutaneous defect.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
10/194. Aplasia cutis congenita with epidermolysis bullosa: a case report.A child with epidermolysis bullosa and aplasia cutis congenita is presented. This is a very rare condition that represents an unusual manifestation of epidermolysis bullosa. Management of aplasia cutis congenita is controversial and may be conservative, surgical, or a combination of the two. In this patient, surgical treatment with split-thickness skin grafts failed, and conservative treatment using silver-sulfadiazine cream dressings was instituted.- - - - - - - - - - ranking = 6keywords = congenita (Clic here for more details about this article) |
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