Biomedical subjects
Publications and source records attributed to W B Reed.
A particular scarring atrophic disorder occurring in tropical countries and usually affecting dark-skinned persons is presented herein.
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One of the first patients studied by Cleaver on the DNA repair defect to ultraviolet light damage in xeroderma pigmentosum has been subjected to autopsy examination. This patient had the DeSanctis-Cacchione syndrome (microcephaly, dwarfism, mental deficiency, and choreoathetosis). Her autopsy findings were similar to those of the other three patients with this syndrome, emphasizing olivopontocerebellar atrophy, who underwent autopsy. The patient apparently could not tolerate psoralens because of increased incidence of carcinoma formation.
A 14-year-old boy, who had the physical and neurological characteristics of cerebral gigantism (Sotos syndrome), developed hepatocarcinoma. This tumor is rare in children and has never, to our knowledge, been recorded in a patient with cerebral gigantism. An autopsy was performed, the first we are aware of in a patient with cerebral gigantism without increased size in ventricles.
Fibroblasts of skin explants from three normal men and six patients with recessive epidermolysis bullosa dystrophica (EBD-R) were cultured in Dulbecco's medium, grown to confluence, sectioned and studied with the electron microscope. The normal control fibroblasts from the 6th to 13th passage (secretory phase) showed irregular or lobed nuclei with centrally scattered chromatin. They also had prominent RER, Golgi complexes, variously shaped mitochondria and cytoskeletal microfibrils. Their peripheral cytoplasm exhibited many vacuoles and a small number of these were autophagic lysosomes. In addition to the ultrastructural features described in the control fibroblasts, the EBD-R cells from the 6th passage contained remarkable numbers of strongly electron dense lysosomal bodies through their entire cytoplasm with very few empty vacuoles. It is speculated that the accumulation of these lysosomes may be connected with a primary metabolic cellular defect in the dermal fibroblasts of patients with EBD-R akin to that described in mucopolysaccharide storage diseases.
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A new hereditary syndrome is described in three, perhaps four generations, with a male-to-male transmission that denotes an autosomal dominant inheritance. Usually after the age of 40, there is a swelling of the lower lip by varicosities, a phenomenon usually seen in older individuals. Ten individuals have had this disorder. They do not seem to have any of the hereditary disorders that cause vascular changes in the lips, although the autosomal dominant disorder, Rendu-Osler-Weber syndrome most resembles this disease.
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A new syndrome, consisting of natal or defective teeth, or both, steatocystomas of the skin, and epidermal cysts of the scalp, is described in several generations. One member of the family had eruptive molars. Male-to-male transmission suggests autosomal dominant inheritance. This syndrome should be separated from pachyonychia congenita I and II.
Carcinoma, usually always squamous cell carcinoma, is one of the most serious complications in epidermolysis bullosa dystrophica. It can occur on the skin, mucous membranes, the esophagus and possibly the upper part of the bronchial tree. We are reporting on four new patients; one, the youngest to be so reported, one with a definite autosomal dominant inheritance and one with a chronic acquired dystrophica epidermolysis bullosa. Most cases have an autosomal recessive inheritance, but the disorder is probably more hetereogeneous in its inheritance than has been reported. Studies of the collagen indicate a disturbance, but present studies indicate the defect to be more a cellular defect in the fibroblast yet undetermined. The carcinomas, usually multiple, appear to arise on scarred tissue and to metastasize rapidly with death.
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The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities, and thickening and hypertrichosis of the skin, unlike that seen in other genodermatoses. The early stages of cutaneous abnormalities are characterized by proliferation of fibroblasts deep in the dermis, while hypocellular homogenization of the collagen is evident later. Ultrastructural peculiarities of fibroblasts include dilated and vacuolated mitochondria, the presence of varying amounts of myofilaments in the cytoplasm, and a prominent fibrous nuclear lamina. Cells other than fibroblasts display no abnormalities. The basic defect in this disorder is unknown; however, it may be related to abnormal function of fibroblasts.
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Cowden disease represents an unusual, but unique syndrome which can be recognized most consistently by the development of characteristic verrucous, keratotic, papular, and nodular lesions about facial orifices, on the oral mucosa, and over the dorsal surfaces of the forearms and hands. The cause of these diverse hyperplastic changes is not known. Recognition of these lesions as signs of more extensive disease should alert the physician to examine the thyroid gland, breasts, female reproductive tract, GI tract, and skeleton for evidence of the associated changes we have enumerated. Because of the tendency for lesions of the thyroid, breast, and intestines to undergo malignant change, these patients require close observation and evaluation.