Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case report of a 20 year old woman illustrates the course of blepharochalasis. This disease was defined as an entity by E. Fuchs in 1896. It is characterized by relapsong edematous tumefaction and increasing relaxation of the eye lids with atrophy of the skin, blepharophimosis and emergence of a pseudoepicanthus. Folding of the oral mucosa in the upper lip, the so-called double lip, euthyroid struma, and, in later stages, orbital fat hernia and prolapse of the lacrimal gland, are further facultative symptoms. Partially, late stages of the disease had been described as Ascher- or Laffer-Ascher-Syndrome. This syndrome is no separate entity.
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PMID:[Blepharoachalasis (Fuchs) and the Laffer-Ascher syndrome]. 56 95

Herniation of the lacrimal gland is an unusual condition which has a predilection for blacks and is associated with blepharochalasis. It is benign and tends to become progressive. Either or both lobes of the lacrimal gland can herniate and must be differentiated from dermolipoma and orbital fat. A surgical treatment is described, and three cases are presented.
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PMID:Herniation of the lacrimal glands. 59 61

Herniation of the lacrimal gland is a condition that occurs unilaterally or bilaterally. Either or both lobes of the lacrimal gland may prolapse. Orbital lobe prolapse may be associated with blepharochalasis, a disease of puberty. We developed a surgical technique for the repair of prolapsed lacrimal glands. It is important to have adequate hemostasis and closure of the orbital septum.
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PMID:Surgical repair of prolapsed lacrimal glands. 62 40

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