1/5. Squamous cell carcinoma in a patient with Netherton's syndrome.A 29-year-old white woman with a history of Netherton's syndrome presented with two squamous cell carcinomas on the right dorsal hand and the left upper arm. She reported a 2-year history of these lesions, which were originally treated as warts. She denied excessive sun exposure, immunosuppressive therapy, or a previous history of skin cancer. Her past medical history included acute renal failure, multiple urinary tract infections, meningitis, and recurrent otitis media as a child. In addition, she had an ovarian abscess at 4 years of age with resulting salpingo-oophorectomy. She also reported a history of severe myopia, glaucoma, and multiple ocular infections with a resulting corneal scar. In addition to atopic dermatitis, she had a 10-year history of psoriasis. Her medications included topical steroids and emollients for atopic dermatitis and psoriasis, in addition to timolol ophthalmic drops for glaucoma. Her family history was significant for a 22-year-old sister with Netherton's syndrome (Fig. 1). She denied any history of skin cancer in her sister or other members of her family. On physical examination, she had an exfoliative erythroderma, madarosis, and diffuse patchy alopecia. In the bilateral axilla, she had well-defined pink scaly plaques which were confirmed as psoriasis by biopsy. On the right dorsal hand, she had a 1.5 x 1.0 cm pink verrucous plaque (Fig. 2). On the left upper arm, she had a 1.5 x 0.8 cm pink scaly plaque. Biopsies of both sites confirmed squamous cell carcinomas. Both lesions were completely excised with 4 mm margins.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/5. Chromosomal translocation t(10;11)(q26;q13) in a woman with combined pituitary hormone deficiency.We describe the case of a girl with combined pituitary hormone deficiency (CPHD) carrying a balanced chromosomal translocation t(10;11)(q26;q13) with paternal transmission. Her father, with no apparent physical abnormalities, had the karyotype: 46, XY, t(10;11)(q26;q13). CPHD denotes impaired production of growth hormone (GH) and one or more of the other five anterior pituitary-derived hormones. Pit-1 gene and Prop-1 gene mutations and deletions have been reported being responsible for CPHD. Although our patient had a t(10;11) (q26q13) paternal chromosomal translocation, the phenotype was similar to that found in humans with different Pit-1 or Prop-1 gene alterations. Interestingly, the patient's father had the same translocation without phenotypic effects. In conclusion, we describe panhypopituitarism in a woman with a paternally transmitted translation, which appears to be phenotypically expressed only in females.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/5. Psychiatric findings in wolfram syndrome homozygotes.diabetes mellitus and bilateral optic atrophy are the defining characteristics of the autosomal recessive wolfram syndrome. diabetes insipidus, neurogenic bladder, deafness, and other neurological manifestations are frequent. A review was made of the medical records of 68 wolfram syndrome patients, aged between 8 and 43 years, identified by casefinding throughout the USA. 41 of the patients (60%) had episodes of severe depression, psychosis, or organic brain syndrome, as well as impulsive verbal and physical aggression. These symptoms were very severe in 17 patients (25%), of whom 12 required admission to a psychiatric hospital and 11 attempted suicide. We conclude that the wolfram syndrome gene predisposes homozygotes to psychiatric illness.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/5. Psychoanalytic observations on vulnerability to physical disease.The psychological indicators discussed in this paper are not per se predictors of physical illness; yet they represent specific genetic-dynamic forces and occur too frequently to be coincidental and of no significance. Rather, they are warning cues to vulnerability to somatic illness and supplementary to the risk factors derived from physical data. The list of vulnerability cues includes exposure to stress. This is an alerting cue; past modes of reaction to stress in the form of physical patterns (but not conversion reactions); regressive shifts of defenses in the direction of resomatization; mounting aggression that is not directly verbalized; diminution of psychologically expressed guilt, though guilt would be expected and indeed becomes manifest in physical form; psychological versions of transference reactions replaced by expressions in body language; dreams in which stimuli from early physical dysfunction are recurrently part of the daily residue and give a somatic cast to current conflicts; identification with important objects that is increasingly expressed in somatic terms. These cues tend to be accompanied by a growing perception of, and preoccupation with, the body. The more such indicators are present and noted, the greater their usefulness in predicting physical illness.- - - - - - - - - - ranking = 10keywords = physical (Clic here for more details about this article) |
5/5. rhabdomyolysis following severe physical exercise in a patient with predisposition to malignant hyperthermia.A 21-year-old man suffered from exertional heat stroke with impaired consciousness and rhabdomyolysis after strenuous physical exercise. Within two weeks the patient recovered completely without any specific therapy. Based on the symptoms and laboratory investigations, this episode suggested a moderate form of malignant hyperthermia. An in vitro contracture test was performed and a predisposition to malignant hyperthermia was diagnosed; other muscular diseases were excluded by histological examination. At present, the in vitro contracture test is the only method used to determine susceptibility to malignant hyperthermia and should be performed when the diagnosis is suggested on clinical grounds.- - - - - - - - - - ranking = 5keywords = physical (Clic here for more details about this article) |