PubMed HealthSearch

Biomedical subjects

L F Eichenfield

Publications and source records attributed to L F Eichenfield.

At least 19 recordsLinked to original sources

Neonatal dermatology.

Recent advances in neonatology and dermatology have provided us with a better understanding of neonatal and premature infant skin. The problems associated with immature skin become evident immediately after birth and require constant attention throughout the neonatal period. As advances in neonatal care push the gestational age of viability lower, skin maturation and function become increasingly important clinical problems. Premature skin immaturity contributes to elevated water loss, problems with electrolytes and thermoregulation, increased risk of local or systemic infection, increased uptake of potentially toxic agents, and vulnerability to trauma. This review discusses the unique nature of dermal structure and function in very low birth weight infants, evidence of mechanical fragility, toxicity of various topical agents, and the use of emollients. The opinions expressed are those of the authors and do not necessarily represent the views of the Navy or Department of Defense.

Humans

Use of the cotton swab method in diagnosing Tinea capitis.

OBJECTIVE: To evaluate the accuracy of the cotton swab technique for identifying fungal infections of the scalp. The purpose of the study was: 1) to compare the cotton swab technique with the toothbrush method, a popular and reliable means for obtaining specimens; and 2) to ascertain if transport of a specimen, entailing variable transport duration and conditions, impairs the sensitivity and specificity of the technique. MATERIALS AND METHODS: Part 1 consisted of a prospective, investigator-blinded comparison analysis. Fifty children with scalp findings suspicious for tinea capitis were cultured using both techniques: the toothbrush and cotton swab. Ninety-six culture results were obtained for analysis. The second part of the study consisted of a prospective comparison analysis of cotton swab culture results obtained from samples plated immediately after collection in the physician's office as compared with samples transported to outside laboratories for processing. Thirty-one children with presumed tinea capitis were cultured twice with the cotton swab technique; one sample was immediately plated onto fungal medium and the other sent to an outside lab, the selection of which was dictated by the patient's insurance plan. A total of 62 samples were obtained; 58 sample results were used for analysis. RESULTS: In part 1 of the study, 60% of the 48 children analyzed had positive fungal cultures. Eighty percent of these were Trichophyton species. There was 100% agreement in the results obtained; all patients with positive results using the toothbrush method were also positive when the cotton swab method was used. Similarly, there was complete concordance in laboratory results from the second part of the study. Fifty percent of the 28 children analyzed had positive cultures; 86% grew Trichophyton species. All patients who had positive cultures from those samples plated in-office also had positive results from the outside laboratory samples. CONCLUSIONS: The cotton swab technique is an easy, atraumatic, inexpensive, and reliable means to evaluate patients with suspected tinea capitis. The method remains sensitive and specific even when transport of these specimens is required and processing is thus delayed. This painless technique requires little technical expertise and can be rapidly performed with a standard cotton tip applicator. It should prove an invaluable aid to practitioners in evaluating patients with possible fungal infections of the scalp.

Adolescent

Gastric outlet obstruction and epidermolysis bullosa.

We describe a case of pyloric atresia coexisting with epidermolysis bullosa, almost certainly of the junctional type. The coexistence of pyloric atresia and junctional epidermolysis bullosa (PA-JEB syndrome) has been repeatedly observed. This syndrome has several clinical features that distinguish it from Herlitz junctional epidermolysis bullosa (JEB). These include a lack of prominent granulation tissue formation and increased frequencies of genitourinary tract involvement and ear anomalies. Aplasia cutis congenita is sometimes present; esophageal atresia is uncommonly present. In all 12 patients examined to date, normal basement membrane zone expression of laminin-5 biochemically distinguishes PA-JEB syndrome from Herlitz JEB. Mutations in the beta 4 integrin gene have been observed in one patient with PA-JEB syndrome. Thus there are both clinical and biochemical reasons to separate the PA-JEB syndrome from Herlitz JEB. This is the second known case of papillary hyperplasia of the amnion to be seen in any setting. The other was a case of JEB without pyloric atresia.

Epidermolysis Bullosa

Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein.

The severe mutilating Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is characterized by the absence of anchoring fibrils that consist of type VII collagen. We have previously identified premature termination codon (PTC) mutations in both alleles of the type VII collagen gene (COL7A1) in HS-RDEB patients. In this study we have defined the mechanism by which these mutations elicit their phenotypic consequences in a family. The extent of nonsense-mediated mRNA decay induced by these mutations was assessed by quantitation of the level of expression of the corresponding mRNA from each of the mutant alleles by RT-PCR of parental RNA. The level of expression of the paternal mutant allele with a PTC in exon 2 was approximately 30% of that of the wild-type allele whereas that of the maternal mutant allele with a PTC in exon 104 was reduced to about 80% of the normal allele. Immunoprecipitation of newly synthesized type VII collagen with a monoclonal antibody revealed reduced quantities of alpha1(VII) polypeptides in both parents' cells, whereas their synthesis was entirely absent in the proband's keratinocytes. Thus, a consequence of these premature termination codon mutations in COL7A1 is nonsense-mediated mRNA decay, with a dramatic reduction in type VII collagen synthesis, and the absence of anchoring fibrils in the proband. These results establish a mechanistic link between the presence of premature termination codon mutations in both alleles of COL7A1 and the clinical phenotype of HS-RDEB.

Alleles

Scabies.

Explore the source record for details and available documents.

Administration, Topical

Cutaneous telangiectases in neonatal lupus erythematosus.

BACKGROUND: Persistent telangiectases are a feature of neonatal lupus erythematosus (NLE) but have generally been noted in areas of prior inflammatory disease. The occurrence of vascular macules and papules at sites without preceding dermatitis has not been reported in NLE. OBJECTIVE: Our purpose was to emphasize a previously unidentified aspect of cutaneous NLE: the presence of angiomatous or matlike telangiectases in sites without antecedent or concurrent dermatitis. METHODS: We describe seven patients in which telangiectatic macules or angiomatous papules were primary or early features of NLE. RESULTS: Five infants lacked a history of preceding or concurrent inflammatory lesions at sites of telangiectasia development. In four infants findings included vulvar or inguinal angiomatous papules. CONCLUSION: Telangiectases may be a presenting feature of NLE, can be found in sun-protected sites, and may occur independent of "lupus dermatitis."

Child, Preschool

Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?

A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy, make it likely that oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis.

Abnormalities, Multiple

Pulmonary vasculitis with hemorrhage in anaphylactoid purpura.

We report a 14-year-old female with anaphylactoid purpura (AP) who developed pulmonary hemorrhage with acute vasculitis on lung biopsy. She improved with pulse methylprednisolone, daily prednisone and ventilatory assistance. Pulmonary vasculitis is a rare but serious manifestation of AP.

Adolescent