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Biomedical subjects

B A Drolet

Publications and source records attributed to B A Drolet.

At least 19 recordsLinked to original sources
PubMed1998

Dyskeratosis congenita with linear areas of severe cutaneous involvement.

Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the first manifestation. The pigmentary changes may be limited to neck, upper chest, and proximal parts of the limbs initially but within affected areas the involvement is always diffuse. We report on a patient with typical diffuse cutaneous signs of dyskeratosis congenita superimposed with hyperpigmentation that was more pronounced along Blaschko's lines. To explain this phenomenon, we assume that the patient has the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell giving rise to a population of cells that migrated along these lines during embryogenesis.

Adolescent↗
PubMed1997

Preauricular skin defects. A consequence of a persistent ectodermal groove.

BACKGROUND: The term aplasia cutis is used to describe congenital localized defects of the skin. This affliction is the end result of various in utero events. Aplasia cutis of the face, although rare, has been associated with numerous dysmorphic features and described under many clinical terms. OBSERVATIONS: We studied 10 patients with oval, atrophic patches distributed in a linear pattern on the preauricular region of the face. Most of the defects were bilateral, and all consistently fell in an oblique line extending from the preauricular region to the angle of the mouth. This line corresponds to the region of fusion between the maxillary and mandibular facial prominences during embryonic development. CONCLUSIONS: This type of facial aplasia cutis may be the result of incomplete fusion of the ectodermal groove between the maxillary and mandibular facial prominences. Although other types of facial skin defects may share a similar pathogenic mechanism, they are distinct in that they occur in different regions and may have other abnormal facial features.

Biopsy↗
PubMed1997

Purpura in infants and children.

Hemorrhage into the skin (purpura) may result from abnormalities in any of the three components of hemostasis: platelets, plasma coagulation factors, and blood vessels. The morphology, size, and distribution of the hemorrhagic lesions are helpful diagnostic features. The main causes of purpura in the newborn and the more common hemorrhagic disorders in children are reviewed.

Adolescent↗
PubMed1997

Juvenile xanthogranuloma.

Juvenile xanthogranuloma (JXG) is a benign, self-healing disorder characterized by solitary or multiple yellow-red nodules on the skin and, occasionally, in other organs. It is predominantly a disease of infancy or early childhood, although adults may also be affected. Histologically, JXG represents an accumulation of histiocytes lacking Birbeck granules (non-Langerhans cells), which can be differentiated from Langerhans cells by specific staining techniques. Affected persons have normal lipid metabolism. JXG is therefore classified as a normolipemic non-Langerhans cell histiocytosis. The patient's general health is not impaired and, in the absence of associated conditions, the prognosis is excellent. Diagnosis is readily made in typical cases, but may be more difficult in unusual variants.

Adult↗
PubMed1997

Cutaneous granulomas as a presenting sign in ataxia-telangiectasia.

Telangiectasia is the classic cutaneous finding of ataxia-telangiectasia (AT) and is often the physical finding that suggests the diagnosis. We report a patient in whom noninfectious cutaneous granulomas were the presenting cutaneous feature of AT and discuss immunodeficiency syndromes that are associated with similar cutaneous granulomas.

Ataxia Telangiectasia↗
PubMed1996

Dermatomal lichenoid chronic graft-vs-host disease following varicella-zoster infection despite absence of viral genome.

Localized cutaneous graft-versus-host disease (GVHD) following a dermatomal distribution or in a pattern of Blaschko's lines. Some authors have postulated that dermatomal GVHD is triggered by a varicella-zoster virus infection, although in reported cases, there was no history of a preceding herpes zoster. We describe a case of GVHD localized to the exact dermatome of a culture-proven varicella-zoster virus infection. PCR analysis failed to detect persistence of viral genome in the affected skin.

Adolescent↗
PubMed1995

Cutaneous pseudolymphoma: an unusual presentation of a deep subcutaneous thigh mass.

Cutaneous pseudolymphoma is considered to be a benign (reactive) cutaneous lymphoid infiltrate; the term designates reactive diseases of the skin that histologically mimic cutaneous lymphoma. We report a case in which a 63-year-old female presented with a 5-month history of a progressive skin eruption and an enlarging subcutaneous mass following a presumed insect bite. Excisional biopsy showed this to be a pseudolymphoma extending from the dermis into the subcutaneous tissue. A number of pathological features that distinguish pseudolymphoma from cutaneous lymphoma, including histology, immunophenotype, and immunogenotype, are reviewed. The case herein challenges previous beliefs that pseudolymphoma is confined to cutaneous involvement and indicates that the process can involve deeper tissues. The final criterion for distinguishing benign from reactive processes is biological behavior. Since the depth of invasion in cutaneous pseudolymphoma has not previously been appreciated, the patient will need to be carefully examined periodically until the biological behavior of the process has been determined.

Female↗
PubMed1995

The hair collar sign: marker for cranial dysraphism.

OBJECTIVE: To call attention to a cutaneous marker for neural tube closure defects of the scalp, the "hair collar" sign. This finding consists of a ring of long, dark, coarse hair surrounding a midline scalp nodule. METHODS AND RESULTS: Four children with small congenital scalp nodules and the hair collar sign were studied from the standpoint of clinical findings, radiologic scans, and histology of the excised nodules. All four had an overlying vascular stain in addition to the hair collar. Patients 1 and 2 were found to have encephaloceles, and one had heterotopic brain tissue. The fourth family refused surgery, but the clinical and radiologic findings were consistent with a diagnosis of atretic encephaloceles. One infant had agenesis of the corpus callosum and a Dandy-Walker malformation as associated findings. CONCLUSIONS: The "hair collar" sign should alert the pediatrician to the possibility of ectopic neural tissue in the scalp and/or underlying central nervous system malformations.

Agenesis of Corpus Callosum↗
PubMed1994

Role of human papillomavirus in cutaneous oncogenesis.

There is a strong association between the human papillomavirus and cutaneous squamous cell carcinoma. If this association was merely random, one would expect an equal distribution of human papillomavirus types among affected individuals. However, only specific types of human papillomavirus are consistently found in cutaneous and genital squamous cell carcinomas. Immunosuppressed individuals clearly have a much higher incidence of cutaneous carcinomas. Immunosuppression, either local or systemic, not only decreases immune surveillance but may also dictate the amount and type of virus each individual may carry. Epidermodysplasia verruciformis and other rare hereditary disorders that combine specific immune defects and an increased incidence of malignancy are very useful models that clearly fulfill a multistep theory of oncogenesis. The precise mechanism of oncogenesis in these select human papillomavirus types is not yet fully understood. Intracellular interactions with the recently described tumor suppressor proteins may prove to be the primary site of action of these oncogenic viruses. Environmental cocarcinogens and activation of oncogenes are clearly important if not essential factors in human papillomavirus-associated tumors. As our knowledge and understanding of malignant transformation grows, it becomes apparent that this is a complex multistep process.

Carcinoma, Squamous Cell↗
PubMed1993

Role of somatostatin in glucose regulation during endotoxicosis in the rat.

This study assessed the role of somatostatin in regulating glucose homeostasis during endotoxicosis in the rat. Plasma levels of somatostatin, glucose, lactate, insulin, and glucagon were measured in control and endotoxin-treated rats. Cysteamine was used to block endogenous somatostatin release before endotoxin treatment. Early during the course of endotoxicosis, plasma levels of somatostatin-like immunoreactivity (SLI) were significantly elevated along with glucose, lactate, insulin, and glucagon. Pretreatment of endotoxic rats with cysteamine virtually blocked the elevated SLI levels and prevented the early appearance of hyperglycemia. Endotoxin-induced increases in lactic acid and glucagon levels were attenuated by cysteamine pretreatment, but elevated insulin levels were not appreciably altered. Elevated somatostatin levels appeared to support the occurrence of the early hyperglycemia and prevent the development of late hypoglycemia during endotoxicosis by sustaining elevated glucagon levels and thus facilitating the maintenance of glucose levels. The results suggest that somatostatin plays a significant role in the glucoregulatory response to endotoxicosis. Endotoxicosis may alter the relative "physiological" ability of somatostatin to inhibit the secretion of insulin and glucagon.

Animals↗