Vesiculopustular eruptions in Down syndrome neonates with myeloproliferative disorders.

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.

Early surgical intervention in a patient with Kasabach-Merritt phenomenon.

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.

Kwashiorkor in the United States: fad diets, perceived and true milk allergy, and nutritional ignorance.

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.

Influence of genetic and environmental factors on melanocytic naevi: a lesson from Turner's syndrome.

Females with Turner syndrome (TS) are alleged to have increased numbers of melanocytic naevi. Although a high count of acquired melanocytic naevi (AMN) is one of the major risk factors for melanoma, this malignancy has been reported only rarely in patients with TS. The purpose of this study was to explore the effects of environmental and genetic factors on AMN count and density in TS. AMN count and density in 24 patients with TS treated with growth hormone (GH). 24 GH-treated females with GH deficiency (GHD) and 24 normal females were compared in a cross-sectional study. The average AMN density in TS was 50 naevi/m2 as compared with 18 naevi/m2 in the GHD group and 24 naevi/m2 in normal controls (P = 0.001 and P = 0.004, respectively). Duration of GH therapy did not correlate with AMN count (P = 0.44) or AMN density (P = 0.81). The pattern of distribution of naevi between constantly exposed, intermittently exposed and unexposed skin was similar in all groups. Sun exposure was the major factor that affected the regional AMN densities in the control groups, but not in the TS group. The findings of our study indicate that the effects of environmental factors on AMN count and density may vary among genetically different populations. A review of the literature suggested that melanoma is no more prevalent in TS than in the general population.

Congenital lipoblastomatosis of the lower extremity in a neonate.

Lipoblastomatosis is a benign tumor of embryonic fat that is more common in male infants. It occurs more frequently in the soft tissues of the extremities. The diagnosis is made by biopsy, which shows globules of lipocytes and lipoblasts mixed with spindled and myxoid cells. MRI demonstrates fat infiltrating fascia and muscle. The infant described had clinical, histologic, and radiologic findings consistent with this diagnosis. Because of concern that total excision would compromise function, a debulking procedure is planned.

Lack of effect of growth hormone therapy on the count and density of melanocytic naevi in children.

An observation of accelerated growth of acquired melanocytic naevi (AMN) during treatment with human growth hormone (GH) raised concerns about the potential risk of melanoma in treated patients. An increased number of AMN, rather than growth rate, is associated with a higher risk for melanoma. It is unknown whether treatment with GH causes an increase in numbers of AMN. We evaluated the effect of GH treatment on the number of AMN in a cross-sectional study of 90 children with GH deficiency. AMN counts and densities in these children were compared with those found in a control group of 100 children. Factors potentially related to increased numbers of AMN, such as age, sex, skin colour, number of episodes of sunburn and duration of GH therapy were determined. Among the various factors, only the age and colour of unexposed skin area were predictive for the total number and density of AMN. No correlation was found between the AMN counts or density and the duration of GH therapy. There was no difference in AMN counts or density between the GH-deficient patient group and the control groups. We conclude that GH therapy in children is not associated with increased AMN count and density and is unlikely to potentiate the risk for melanoma in these children.

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.

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.