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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four children with cutis laxa (generalized elastolysis) are reported. The first three cases were siblings from a Canadian Indian family and the fourth case was the only affected child in an American Black family. Loose and sagging skin folded over the face, neck and trunk, gave a premature senile appearance. Post-mortem examination was performed on the first three cases. The most common and serious visceral involvement was development of pulmonary emphysema. This was present in two autopsied cases and was demonstrated by chest X-ray in the fourth case. Other abnormalities included large inguinal and perineal hernia, rectal diverticulum and multiple diverticulae of the urinary bladder.
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PMID:Cutis laxa (generalized elastolysis). A report of four cases with autopsy findings. 68 75

This case report describes the rare variant of autosomal recessive cutis laxa with bone dystrophy in a Sudanese child. The clinical features include cutis laxa, growth and development retardation, facial dysmorphism, hyperextensible joints, dislocation of the hips and a large umbilical hernia.
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PMID:Cutis laxa, growth retardation and hip dislocation in a Sudanese child. 172 95

A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease.
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PMID:Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. 186 6

Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Histopathological investigation showed a reduction in the amount of elastic tissue in the dermis, but normally localized and ultrastructurally normal components. The family history revealed clinically similar cases in at least five generations, consistent with autosomal dominant inheritance.
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PMID:Cutis laxa: autosomal dominant inheritance in five generations. 190 30

We report a case of a seven months old female patient with diagnosis of generalized primary elastosis or cutis laxa, that also presented a posterior perineal hernia; it was treated with surgery (abdominal and perineal) and the postoperatory evolution was favorable. In the literature it had been reported around 100 cases of posterior perineal hernia; but most of them occurred in adults patients of the female sex, with a high proportion of pregnancy or as a result of radical cancer surgery like pelvic exenteration. This is the first case of posterior perineal hernia in the Hospital Infantil de Mexico Federico Gomez and the third founded in pediatric age in the literature.
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PMID:[Posterior perineal hernia. Report of a case and review of the literature]. 821 73

Ehlers-Danlos syndrome (EDS) type VIIC is a newly recognized human disorder which results from failure to remove the amino-terminal propeptide of type I procollagen. Four cases of EDS type VIIC have been reported, and here we describe a fifth case. The propositus was a 1,445 g male infant born at 30 weeks of gestation following premature rupture of membranes. He had wide fontanelles, prominent eyes with swollen eyelids and blue sclerae, anteverted nostrils, micrognathia, umbilical hernia, short stubby fingers, and cutis laxa with hirsutism. At age 3 months, during the repair of the umbilical hernia, he was noted to have unusual skin fragility. Examination of skin by scanning electron microscopy showed frayed collagen fibrils, and transmission electron microscopy showed the hieroglyphic collagen fibril morphology characteristic of the disorder. As reported in other cases, cultured fibroblasts synthesized type I procollagen that was very poorly processed at the amino-terminal propeptide cleavage site. the 5 known cases of human EDS type VIIC characterize a distinct clinical phenotype, making this condition recognizable at birth before manifestation of severe skin fragility. The diagnosis can be confirmed by biochemical studies of type I procollagen synthesis and by electron microscopic examination of skin.
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PMID:Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC. 898 71

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the siblings also had similar features and wrinkled skin. Our case had markedly loose and wrinkled skin especially over the dorsum of the hands and feet, and on the face and abdomen, dolichocephaly, hypertelorism, blepharochalasis, long filtrum, pectus excavatus, large fontanelles, prominent low-set ears and umbilical hernia. These findings and skin biopsy were consistent with cutis laxa syndrome. In addition to these findings, consanguinity, atypical facies, large fontanelles and umbilical hernia were typical manifestations of type II autosomal recessive cutis laxa.
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PMID:Congenital cutis laxa syndrome: type II autosomal recessive inheritance. 1469 10

Cutis laxa is a condition characterized by redundant, pendulous, and inelastic skin. We identified a patient with recessive inheritance of a missense mutation (169G-->A; E57K) in the Fibulin-4 gene. She had multiple bone fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneurysm, developmental emphysema, inguinal and diaphragmatic hernia, joint laxity, and pectus excavatum by age 2 years. Her skin showed markedly underdeveloped elastic fibers, and the extracellular matrix laid down by her skin fibroblasts contained dramatically reduced amounts of fibulin-4. We conclude that fibulin-4 is necessary for elastic fiber formation and connective tissue development.
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PMID:Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 1668 58

Abnormal systemic collagen metabolism is thought to dispose to the development of hernias. Studies have shown that a reduced type-I/III collagen ratio predisposes to the development of hernias. Patient groups with reduced type-I/III collagen ratio and consequently increased risk of herniation include patients with Ehlers-Danlos, Marfans syndrome, osteogenesis imperfecta, cutis laxa, and patients with abdominal aortic aneurysms, colonic diverticula or stress urinary incontinence. Looking ahead, the perspective may be individualization of the operative technique for patients with a hernia, depending on their collagen profile.
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PMID:[Hernias as medical disease]. 1894 Jan 65

We report recessive mutations in the gene for the latent transforming growth factor-beta binding protein 4 (LTBP4) in four unrelated patients with a human syndrome disrupting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. All patients had severe respiratory distress, with cystic and atelectatic changes in the lungs complicated by tracheomalacia and diaphragmatic hernia. Three of the four patients died of respiratory failure. Cardiovascular lesions were mild, limited to pulmonary artery stenosis and patent foramen ovale. Gastrointestinal malformations included diverticulosis, enlargement, tortuosity, and stenosis at various levels of the intestinal tract. The urinary tract was affected by diverticulosis and hydronephrosis. Joint laxity and low muscle tone contributed to musculoskeletal problems compounded by postnatal growth delay. Craniofacial features included microretrognathia, flat midface, receding forehead, and wide fontanelles. All patients had cutis laxa. Four of the five identified LTBP4 mutations led to premature termination of translation and destabilization of the LTBP4 mRNA. Impaired synthesis and lack of deposition of LTBP4 into the extracellular matrix (ECM) caused increased transforming growth factor-beta (TGF-beta) activity in cultured fibroblasts and defective elastic fiber assembly in all tissues affected by the disease. These molecular defects were associated with blocked alveolarization and airway collapse in the lung. Our results show that coupling of TGF-beta signaling and ECM assembly is essential for proper development and is achieved in multiple human organ systems by multifunctional proteins such as LTBP4.
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PMID:Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 1983 10


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