Biomedical subjects
Publications and source records attributed to J F Nigro.
Physicians who treat children will encounter dermatologic conditions in their daily practice. A general approach to the diagnosis and management of pediatric skin disease is discussed in this article, and specific common entities are summarized, with emphasis on diagnosis and treatment.
BACKGROUND: The Sjögren-Larsson syndrome is a rare condition characterized by ichthyosis, spasticity, and mental retardation. Patients have deficient activity of the aldehyde portion of the fatty alcohol:nicotinamide adenine denucleotide (NAD+) oxidoreductase complex. OBJECTIVE: Our purpose was to describe atypical findings in three siblings with the Sjögren-Larsson syndrome and implications regarding diagnosis. METHODS: Medical histories were taken and physical examinations performed on four siblings and their parents. Analysis of fibroblast fatty alcohol:NAD+ oxidoreductase or fatty aldehyde dehydrogenase activity (or of both) was determined in each. RESULTS: Decreased fibroblast fatty alcohol:NAD+ oxidoreductase or fatty aldehyde dehydrognase levels (or both) were present in three of four siblings. The fourth sibling and the parents had levels similar to obligate heterozygotes. None of the affected siblings fulfilled the classic criteria for the syndrome. CONCLUSION: Although all affected siblings had abnormally low activity of the fatty alcohol:NAD+ dehydrogenase complex, their clinical findings were variable. This divergence of clinical features in siblings has not been previously reported. We propose that deficient activity of the fatty alcohol:NAD+ dehydrogenase complex be considered part of the definition of the Sjögren-Larsson syndrome that would also include the probable, but not absolute, presence of ichthyosis, mental retardation, and spasticity.
Because of concerns about the declining autopsy rate, an attempt was made to evaluate the contributions from the postmortem examination in a pediatric population with leukemia. Accordingly, 161 autopsies performed between 1970 and 1985 were reviewed and the diagnoses compared with those listed in the clinical records of the same patients. New diagnoses were grouped into diagnoses of diseases thought to have contributed to the death of the patient, those of diseases thought to have contributed to the morbidity of the patient, those of presumed toxic reactions to drug therapy, and diagnoses of academic interest. The newly diagnosed diseases thought to have contributed to the patient's death either had been totally unsuspected by the clinician or had been suspected but incorrectly diagnosed. The most common revelation was the identification of mycotic infections that were thought by the clinician to have been bacterial in origin. The clinical diagnosis of these kinds of infections progressively improved during the study period. Because the changes in diagnoses and therapy, particularly the increasing use of antimycotic therapy, could be directly attributed to autopsy findings and, more recently, because of the expanding use of more toxic multiagent chemotherapy, we believe that the postmortem examination remains an important procedure, even in clinical situations where much is known about the patient.
Kwashiorkor is a common affliction of children worldwide. It occurs less often in developed countries, but has been reported under a variety of circumstances, including poverty, neurologic disease, and malabsorption. Because of its rare occurrence in the United States and because the affected child has an edematous rather than wasted appearance, physicians often do not consider it as a diagnostic entity. This article describes a case of kwashiorkor in a child with food aversion that manifested as "flaky paint dermatitis." Our discussion will attempt to delineate underlying conditions that may predispose to kwashiorkor. In addition, biochemical and cellular etiologic factors that may be linked with classical and nonclassical skin findings of kwashiorkor are considered. Finally, we present a differential diagnosis for any child with a generalized eczematous or desquamative rash. Our aim is to increase the ability of health care providers to identify and treat children with kwashiorkor in a timely manner.