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Background: Dermatofibrosarcoma protuberans (DFSP) is an uncommon low-grade fibrohistiocytic tumor that usually occurs on the trunk or proximal extremities and typically appears during the second to fifth decade of life. It most commonly begins as a red-blue plaque that grows slowly and ultimately becomes nodular. The tumor is associated with a high recurrence rate but low metastatic potential. It rarely presents in childhood and is even more rarely present at birth. The clinical diagnosis of DFSP in infancy or childhood may be difficult because, in its early stages, the tumor often resembles a vascular birthmark., Observations: We studied 6 patients with congenital DFSP who were initially thought to have other diagnoses, highlighting the potential clinical variability in presentation. Half of the cases in this series occurred in areas of the body outside of the typically reported distribution pattern of acquired DFSP and in locations that, therefore, may not arouse suspicion of congenital DFSP., Conclusions: Given the aggressive local potential and high recurrence rate of DFSP, early diagnosis is preferable to facilitate appropriate excision. We recommend that any infant or child presenting with a cutaneous plaque or nodule, even congenital, that does not have characteristic or diagnostic clinical features undergo tissue biopsy for histologic evaluation.

Background: Hemophagocytic lymphohistiocytosis is a rare, rapidly progressive, and potentially fatal disorder of activated histiocytes. The initial clinical presentation commonly includes fever, hepatosplenomegaly, and pancytopenia. Skin eruptions are described in up to 65% of patients. Information regarding the morphological features, configuration, and distribution of these eruptions is lacking and is typically reported as nonspecific and "maculopapular." The aim of this report is to better delineate the cutaneous manifestations of the disorder to assist in differentiating the process from other systemic diseases., Observation: A case report of a neonate with hemophagocytic lymphohistiocytosis with generalized purpuric macules is described. The clinical features of 5 other patients with hemophagocytic lymphohistiocytosis at Children's Hospital of Wisconsin, Milwaukee, are summarized. Clinical images of 1 additional neonatal patient with hemophagocytic lymphohistiocytosis are presented as well. These observations demonstrate the varied cutaneous manifestations of hemophagocytic lymphohistiocytosis: erythroderma, generalized purpuric macules and papules, and morbilliform eruptions., Conclusion: Awareness of cutaneous involvement can assist in the initial diagnosis of hemophagocytic lymphohistiocytosis and potentially signify recurrences.

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.

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.

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.

We report a patient with naevoid basal cell carcinoma syndrome (NBCCS) who developed cutaneous cysts on her digits. Histological examination of one of the cysts showed a festooned lining epithelium maturing without a granular cell layer, similar to that of the jaw keratocyst characteristic of this syndrome. This type of cutaneous keratocyst has been reported only once previously. in two patients with NBCCS.

Purpose: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal-dominant multisystem disorder characterized by various congenital anomalies, multiple cutaneous basal cell carcinomas (BCCs), and increased risk for other benign and malignant tumors. We report a 13-year-old girl with NBCCS who developed cutaneous BCCs 2 years after radiotherapy for Hodgkin's lymphoma., Patients and Methods: Review of clinical and laboratory observations of patients with NBCCS suggest a close relationship between radiotherapy and the early emergence of numerous BCCs. However, in vitro studies of the effect of radiosensitivity on cells cultured from patients with NBCCS show inconsistent results., Results: Clarification of the role of radiotherapy in the induction of BCCs in NBCCS requires additional studies. Nevertheless, recognition of the syndrome is important because whenever possible radiotherapy for secondary tumors might be effectively replaced by chemotherapy.

Background: Dermatofibrosarcoma protuberans (DFSP) arising on the hands and feet is unusual and, at any site, is extremely rare in children., Objective: We report a 5-year-old girl who developed DFSP on her hand at 9 months of age. We review the clinical features and treatment of childhood DFSP and of acrally occurring DFSP at all ages., Conclusion: DFSP in children develops most often on the back (22.2%) and at acral sites (14.8%). It occurs on the hands and feet of children more commonly than in adults. This may be related to the increased frequency of trauma at these sites in children. Mohs micrographic surgery is the treatment of choice for DFSP.

GM1-gangliosidosis (GM1) is one of the metabolic storage diseases, of which a differential diagnosis requires an array of biochemical assays to determine the enzyme deficiency. This approach is not only time-consuming and costly but also unavailable to most hospital laboratories. However, a presumptive diagnosis of GM1 may be made on the basis of coarse facial feature, foamy endothelial cells in the cutaneous blood vessels and ectopic Mongolian spots, if present. A more definitive diagnosis of GM1 is then made on the demonstration of deficiency of GM1 beta-galactosidase in leukocytes, plasma or cultured skin fibroblasts. Thus, a battery of enzyme tests may be averted.

Pityriasis lichenoides et varioliformis acuta (PLEVA) and pityriasis lichenoides chronica (PLC) are related benign disorders without recognized association with cutaneous T-cell lymphoma (CTCL). We report the cases of two children with documented PLEVA evolving into CTCL over several years. One child had the clinical lesions of PLC but the dermatopathologic findings of PLEVA at age 2 years. At age 12 years, he had skin changes of poikiloderma atrophicans vasculare and dermatopathologic findings consistent with parapsoriasis en plaque. The second child presented at age 7 years with scaling dermatitis and dermatopathologic findings of PLEVA. At age 12 years, the histologic diagnosis was parapsoriasis. Monoclonal antibody studies performed on biopsy specimens from both patients revealed 70% to 100% cells staining with CD5, 80% to 90% staining with CD4, 30% to 50% staining with CD8, and an increase in CD1-staining cells in the papillary dermis, indicating a predominantly helper T-cell infiltrate. We believe that PLC and PLEVA may be part of the spectrum of CTCL. Furthermore, CTCL may be more common in young children than once thought.

Five infants with sacral hemangiomas and a particular constellation of congenital abnormalities are described. Three of the five infants had an imperforate anus associated with a fistula. Three of the five had renal anomalies; four had bony abnormalities of the sacrum, and three of these also had a lipomeningomyelocele. Four had skin tags, three of which were in the genital and sacral areas. Two of the five also had abnormalities of the external genitalia. This constellation of defects associated with a sacral hemangioma has not been, to our knowledge, elaborated previously.

Primary cutaneous lymphoma in childhood is extremely rare. An 11-year-old girl had lesions that were treated as infected insect bites until a biopsy was performed and the diagnosis of primary T-cell lymphoma was made. In contrast to the typically indolent course of cutaneous T-cell lymphoma in adults, the condition in children tends to disseminate rapidly.

An infant with GM1 gangliosidosis was found to have an eruption at birth consisting of extensive and unusual slate blue macules resembling mongolian spots. All areas of skin were involved except face, scalp, palms, and soles. A biopsy of a macule obtained at 5 months of age demonstrated melanocytic cells in the dermis consistent with monogolian spot but also a perivascular histiocytic infiltrate. At 8 months of age, absence of beta-galactosidase activity was documented in both peripheral leukocytes and skin fibroblasts confirming the diagnosis of GM1 gangliosidosis. The dermal histiocytic cells noted on skin biopsy were interpreted as a manifestation of this storage disease. The coexistence of the hyperpigmented lesions and the heritable enzyme defect was believed to be coincidental.

Sinus histiocytosis with massive lymphadenopathy is a rare clinicopathologic entity that affects mainly children and young adults. Although the lymph nodes are the most common sites of involvement, extranodal infiltrates may arise in the orbits, skin, upper respiratory tract, and bone, as well as other organs. Approximately 10% of patients have had cutaneous infiltrates, but very few of them have had lesions limited to the skin. We treated a 15-year-old female with cutaneous nodules as the sole manifestation of the disease.

The fibromatoses are a heterogeneous group of disorders characterized by proliferation of fibroblasts. Infantile myofibromatosis is a variant that is distinctive because of its multicentric origin, appearance at birth, and cellular composition, which is predominantly myofibroblasts. We treated a patient with infantile myofibromatosis with the interesting clinical presentation of a linear lesion involving the left arm and shoulder, and aggressive hepatomegaly with jaundice secondary to fibroblastic infiltration of the common bile duct and gallbladder. Diagnosis was confirmed histologically and ultrastructurally. Excision of the cutaneous lesion was facilitated by tissue expansion of uninvolved regional tissue.

A 3 1/2-year-old black girl with bilateral ovarian fibromas was subsequently diagnosed as having nevoid basal cell carcinoma syndrome at the age of 4 years, when basal cell tumors and pits of the hands and feet were noted on examination. This case is unusual because of the development of bilateral ovarian fibromas at an extremely early age. Prepubertal patients with this ovarian tumor should be thoroughly investigated for the possibility of nevoid basal cell carcinoma syndrome.