Hyperpigmentation of the face and hands without blisters: porphyria cutanea tarda

Hyperpigmentation of the face and hands without blisters and hypertrichosis in Ethiopian patients with liver disease represents an early or latent form of porphyria cutanea tarda.     

The use of multiple thresholds and segregation analysis in analyzing the phenotypic heterogeneity of multifactorial traits

(1) Three models based on multifactorial inheritance are introduced to account for phenotypic heterogeneities. These models are used to determine whether subforms of a triat are: (a) different degrees of the same process, (b) non-familial environmental variants of the same process, and (c) independently transmitted processes. (2) The parameters of each model consist of two population prevalences and either one, two, or three correlation coefficients which reflect the three hypotheses given above. The models are formulated so that a likelihood ratio test may be performed to discriminate between them. (3) The following types of analyses are described: (a) analysis of prevalence data with separate population prevalence estimates, (b) analysis of prevalence data with the proband a parent with specified spouse, (c) analysis of prevalence data with the proband an offspring with specified parents, and (d) the full segregation distribution of families using Complex Segregation Analysis. (4) When compared with the Analysis of Prevalences, Complex Segregation Analysis has the following advantages: (a) the number of degrees of freedom for parameter estimates is greater and separate estimates of the population prevalences are not necessary, (b) standard errors of the parameters are smaller, and (c) the power to discriminate models is increased. (5) Phenotypic heterogeneities such as age of onset, severity, and sex effect can be more completely understood by the methods of analyses described above. The nosology of familial disorders can also be clarified, and environments relevant to the transmission of the trait can be detected. This approach is particularly suitable for the analysis for behavioural traits since it does not require the assumption that environmental effects common to relatives be ignored. (6) Finally, our experience indicates that incorporating both prevalence and pedigree data into a single analysis decreases the time required to perform the analysis.     

Esophageal Manometry in Patients with Chest Pain and Normal Coronary Arteriogram

Evaluation of the esophagus is helpful in determining the source of chest pain. Eighteen per cent of 72 patients with a normal coronary angiogram had esophageal disease as a source of chest pain. Eight had diffuse esophageal spasm, four had reflux esophagitis and one had an esophageal ulcer. Five of eight patients with diffuse esophageal spasm had relief of symptoms with nitroglycerin. Despite normal coronary arteriogram and normal esophageal manometry 42 of 49 other patients had relief of chest pain with nitroglycerin.     

PATHOLOGICAL FEATURES IN THE DE LANGE SYNDROME

Two girls with Cornelia de Lange Syndrome, dying at the age of 4 weeks and 9 months respectively, are described. Published examples where necropsy was performed are reviewed and the congenital anomalies of internal organs are summarised. Although some neuropathological features probably result from arrest or retardation of maturation, there was evidence in the younger infant of associated breakdown of myelin. Morphological changes of pituitary, thyroid and adrenal glands, are frequent but no link with hypothalamic lesions has been found.     

Mycotoxicosis Caused by Either T-2 Toxin or Diacetoxyscirpenol in the Diet of Broiler Chickens

Mycotoxicosis Caused by Either T-2 Toxin or Diacetoxyscirpenolin the Diet of Broiler Chickens. Hoerr, F.J., Carlton, W.W.,Yagen, B. and Joffe, A.Z. (1982). Fundam. Appl. Toxicol. 2:121-124.Seven-day-old male broiler chickens were fed either T-2 toxinor diacetoxyscirpenol at 4 and 16 ppm for 21 days and had reductionsof feed consumption and of weight gain. Focal, yellow, oralplaques developed by day 2 and were located around salivaryduct openings on the palate, tongue, and buccal floor. The plaquesprogressed to raised, yellowish-gray crusts which covered ulcers.Microscopically, the ulcers had a base of granulation tissueand inflammatory cells, and the crusts comprised exudate, bacterialcolonies and feed components. T-2 toxin and diacetoxyscirpenolproduced similar effects at these concentrations. Comparablelesions also occurred in chickens fed T-2 toxin at 50, 100,or 300 ppm for 7 days. Six of 10 chickens died in the 300-ppmgroup which received an average daily exposure of about 10 mgT-2 toxin/kg body weight. In dead chickens, the lymphoid andhematopoietic tissues and alimentary mucosa were necrotic. Necrosiswas seen less frequently in the liver, kidney and the feather.Survivors of the 7-day studies had atrophied lymphoid organsand were anemic.     

LIPOID PROTEINOSIS

SUMMARY.— A new case of lipoid proteinosis is reported from India. The clinical and histological features were characteristic. The differential diagnosis is discussed.