Biomedical subjects
Publications and source records attributed to B A Drolet.
A 3-day-old male infant with a 3-cm firm subcutaneous mass was found to have decreased platelets, decreased fibrin, and increased fibrin split products diagnostic of Kasabach-Merritt phenomenon. The vascular lesion was resected without complications. We suggest that early surgical intervention is an excellent therapeutic option for Kasabach-Merritt phenomenon.
The antiepileptic hypersensitivity syndrome is a severe, multiorgan reaction to oral antiepileptics that manifests as fever, rash, lymphadenopathy, and hepatitis. This same reaction pattern also has been described following administration of a few unrelated medications. We report on 11 patients who had drug-induced hypersensitivity syndrome and were admitted to our pediatric service and review 94 cases of this syndrome in pediatric patients identified from the literature. We undertook this study to summarize the findings and alert clinicians to the severe internal organ involvement that can occur with this syndrome.
BACKGROUND: Kwashiorkor is the edematous form of protein-energy malnutrition. It is associated with extreme poverty in developing countries and with chronic malabsorptive conditions such as cystic fibrosis in developed countries. Rare cases of kwashiorkor in affluent countries unrelated to chronic illness have been reported. We present 12 cases of kwashiorkor unrelated to chronic illness seen over 9 years by pediatric dermatologists throughout the United States, and discuss common causative themes in this easily preventable condition. OBSERVATIONS: Twelve children were diagnosed as having kwashiorkor in 7 tertiary referral centers throughout the United States. The diagnoses were based on the characteristic rash and the overall clinical presentation. The rash consisted of an erosive, crusting, desquamating dermatitis sometimes with classic "pasted-on" scale-the so-called flaky paint sign. Most cases were due to nutritional ignorance, perceived milk intolerance, or food faddism. Half of the cases were the result of a deliberate deviation to a protein-deficient diet because of a perceived intolerance of formula or milk. Financial and social stresses were a factor in only 2 cases, and in both cases social chaos was more of a factor than an absolute lack of financial resources. Misleading dietary histories and the presence of edema masking growth failure obscured the clinical picture in some cases. CONCLUSIONS: Physicians should consider the diagnosis of kwashiorkor in children with perceived milk allergies resulting in frequent dietary manipulations, in children following fad or unorthodox diets, or in children living in homes with significant social chaos. The presence of edema and "flaky paint" dermatitis should prompt a careful dietary investigation.
BACKGROUND: Infants with Down syndrome are at increased risk for hematologic abnormalities, including leukemoid reaction, transient myeloproliferative disorder, and congenital leukemia. The differential diagnosis of a vesiculopustular eruption in an infant with Down syndrome and these hematologic abnormalities is broad and includes benign, self-limited disorders as well as life-threatening infections. OBSERVATION: We describe 3 newborns with Down syndrome and vesiculopustular eruptions associated with myeloproliferative disorders during the neonatal period. These lesions differ from other neonatal vesicular eruptions in that they have a unique distribution, display pathergy, and contain immature hematopoietic cells similar to circulating blast cells. Resolution occurs without treatment as the hematologic disorder subsides. CONCLUSIONS: Infants with Down syndrome and hematologic abnormalities may have a cutaneous eruption that has characteristic clinical and histopathologic findings. It is possible that this eruption has been unrecognized in the past because of its self-limited course. Whether this eruption is a prognostic factor for the subsequent development of leukemia is uncertain.
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Cutaneous markers have a crucial role in the detection and diagnosis of occult neural tube dysraphism. Recognition of these stigmata and appropriate radiologic imaging decrease the long-term morbidity of this condition.
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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.
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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.
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.
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.
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.
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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.
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