1/7. The sign of Leser-Trelat in a case of adenocarcinoma of the lung.This is what we believe to be the first report of the sign of Leser-Trelat in association with occult adenocarcinoma of the lung. The sign of Leser-Trelat is proposed as a sign of possible occult malignancy, despite various suggestions to the contrary. Also, it is suggested that a tumor-produced humoral factor (eg, transforming growth factor-alpha [TGF-alpha]) could be responsible for both the acute eruption of the monomorphous seborrheic keratoses and the nearly concomitant development of acanthosis nigricans, which occurred in our case. The possible distinction between a hyperplastic and a neoplastic origin of various types of seborrheic keratosis is discussed in relation to this hypothetical humoral factor. In addition, we suggest a refinement of the definition of the sign of Leser-Trelat and discuss the use of "sign of Leser-Trelat" and "syndrome of Leser-Trelat" in relation to physical findings. All patients with the sign of Leser-Trelat should undergo a thorough evaluation for occult malignancy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. Is this patient insulin resistant? How much does it matter?Alex was an obese 10-year-old girl with a family history of type 2 diabetes, hypertension, and perhaps polycystic ovarian syndrome. Her physical examination was significant for a central accumulation of body fat and acanthosis nigricans. Although the laboratory studies indicated that Alex was not diabetic and probably not glucose intolerant, she could be insulin resistant (IR). Should any further evaluation be done? If Alex is IR, what kind of treatment should be offered? The following discussion addresses these questions by reviewing the pathophysiology, diagnosis, and consequences of isolated IR.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. Rabson-Mendenhall syndrome.Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.CONTEXT: To date, all cases of familial partial lipodystrophy type 2 (FPLD2; Mendelian Inheritance in Man 151660) result from missense mutations in LMNA, which encodes nuclear lamin A/C (Mendelian Inheritance in Man 150330). OBJECTIVE: The objective of the study was to carry out mutational analysis of LMNA in two sisters with a particularly severe FPLD2 phenotype. DESIGN: This was a descriptive case report with molecular studies. SETTING: The study was conducted at a referral center. patients: We report two sisters of South Asian origin. The first presented with acanthosis nigricans at age 5 yr, diabetes with insulin resistance, hypertension and hypertriglyceridemia at age 13 yr, and partial lipodystrophy starting at puberty. Her sister and their mother had a similar metabolic profile and physical features, and their mother died of vascular disease at age 32 yr. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES AND RESULTS: LMNA sequencing showed that the sisters were each heterozygous for a novel G>C mutation at the intron 8 consensus splice donor site, which was absent from the genomes of 300 healthy individuals. The retention of intron 8 in mRNA predicted a prematurely truncated lamin A isoform (516 instead of 664 amino acids) with 20 nonsense 3'-terminal residues. The mutant lamin A isoform failed to interact normally with emerin and failed to localize to the nuclear envelope. CONCLUSIONS: This is the first LMNA splicing mutation to be associated with FPLD2, and it causes a severe clinical and metabolic phenotype.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. insulin resistance and acanthosis nigricans, type A: case report.A 9-year-old Somali girl was referred to the Paediatric Diabetic Clinic, Al-Amiri Hospital for control of her diabetes. On physical examination, she was found to have several somatic abnormalities and acanthosis nigricans. Biochemical and hormonal investigations revealed no major abnormalities apart from that of glucose metabolism. insulin resistance was detected early on initiating treatment and, even with high doses, it was impossible to achieve normoglycaemia. This case is similar to other cases described in the literature with insulin resistance and acanthosis nigricans type A.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. acanthosis nigricans presenting as hyperkeratosis of the palms and soles.A patient with an unusual form of palmoplantar hyperkeratosis is described. On thorough physical examination, widespread acanthosis nigricans was discovered. We believe this patient's distinctive keratoderma represents acanthosis nigricans.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor.We describe three siblings with a mild diabetes mellitus in combination with acanthosis nigricans and multiple minor physical abnormalities. fasting plasma insulin was elevated up to 100-fold as compared with normal values, and the diabetes was classified as insulin resistant. Insulin-binding studies on erythrocytes, monocytes, and cultured fibroblasts disclosed an abnormally reduced binding capacity, as compared with that of healthy controls, which was most prominent at low concentrations of insulin. Scatchard analysis on erythrocytes of the three patients revealed a normal number of total insulin-binding sites per cell, but a complete lack of insulin binding to the high-affinity receptor component. The findings are consistent with the assumption of two genetically distinct types of insulin receptors.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |