Neurologic variant of epidermal nevus syndrome with a facial lipoma.

A 1-year-old girl presented for evaluation of a linear plaque on her forehead. She was born at 36 weeks' gestation following an uncomplicated pregnancy and delivery. At birth, she was noted to have an enlarged right cheek. She had no seizure history, but developed grand mal seizures 1 year later. On examination, she had a yellow plaque on her forehead which extended onto her nose. Under her right jaw, extending onto her anterior neck, there was a café-au-lait macule within which there was a yellow plaque which followed the lines of Blaschko. Her right cheek was enlarged and was erythematous (Fig. 1). Magnetic resonance imaging (MRI) of her face showed a mass in the right cheek deep to the subcutaneous fat tissue layer. The signal from the mass was identical to that from the fat, indicating that the mass represented a lipoma. This was later excised surgically and was histologically a lipoma. MRI of the brain demonstrated enlargement of the right lateral ventricle in addition to enlargement of the right cerebral hemisphere. There was also evidence of abnormal gyral architecture. Computerized tomography (CT) three-dimensional reconstruction of the skull demonstrated overgrowth of the right maxilla, right mandible, and right orbit (Fig. 2).

Pincer nail deformity after Kawasaki's disease.

We report a case of acquired pincer nails in an infant with Kawasaki's disease. Given the absence of pain, the nails were left undisturbed. The pincer nail deformity spontaneously resolved as the nails grew out. Surgical treatment of multiple affected nails in this child would have been medically unnecessary.

Acute generalized varicella zoster in the setting of preexisting generalized erythema.

We report a 5-year-old girl who initially had generalized erythema from scarlet fever. Four days later she developed sheets of monomorphous vesicles in the areas of erythema. A Tzanck smear of a vesicle base showed multinucleated giant cells, and viral culture grew varicella zoster virus, confirming a clinical diagnosis of varicella. This case illustrates that, with a background of preexisting erythema, varicella may present in an atypical manner.

Flashlamp-pumped pulsed dye laser treatment of vascular birthmarks.

Before the availability of the flashlamp-pumped pulsed dye laser (FPDL), patients with vascular birthmarks were treated with lasers that had a significant risk of scarring. For more than a decade, such patients have had the choice of being treated with the FPDL, which is safe, effective, and has a low risk of scarring; however, not all vascular birthmarks are amenable to treatment with the FPDL. The laser surgeon must understand the classification and natural history of the various vascular birthmarks to select the most appropriate therapy for a given patient. This article reviews FPDL treatment of port wine stains and hemangiomas, as well as the nursing care required for the laser procedure.

Peripheral primitive neuroectodermal tumor presenting with diffuse cutaneous involvement and 7;22 translocation.

We report an unusual case of peripheral primitive neuroectodermal tumor (pPNET) in an infant presenting with congenital cutaneous nodules and a t(7;22)(p21;q11.2). The biologic behavior of the tumor diverged over time from a slowly growing tumor with multiple cutaneous nodules to a more aggressive neoplasm characterized by pulmonary metastases and a soft tissue mass showing additional cytogenetic alterations.

Vulvar melanoma in childhood.

BACKGROUND: Malignant melanoma is rarely diagnosed during childhood. Approximately 2% of malignant melanomas occur in patients younger than 20 years, with 0.3% to 0.5% of cases occurring in prepubescent children. In adult females malignant melanoma of the vulva and vagina is 100-fold less common than malignant melanoma of nongenital skin. Malignant melanoma of the vulva occurring in a child has been reported once before. OBSERVATIONS: We report 2 cases of childhood vulvar malignant melanoma presenting in preteenage girls. In both cases, the lesions were asymptomatic enlarging hyperpigmented macules on the labium minus. In addition to features diagnostic of malignant melanoma, histological evidence of lichen sclerosus et atrophicus was identified in both lesions. Local excision with conservative margins was the treatment modality of choice in both cases, with good preservation of anatomic structure and function. CONCLUSIONS: This report is of 2 cases of vulvar melanoma in childhood, a rare, yet potentially devastating, presentation of melanoma. Biopsies on suspicious pigmented lesions on the vulva of prepubescent children should be done to rule out malignant change.

Prevalence of hypopigmented macules in a healthy population.

OBJECTIVE: Although hypopigmented macules are an important manifestation of tuberous sclerosis (TS), the probability of TS in healthy individuals who have hypopigmented macules is unknown. The purpose of this study was to establish the prevalence of hypopigmented macules among a cross section of the general white population. STUDY DESIGN: The skin of 423 white individuals younger than 45 years of age was screened for hypopigmented macules with ambient incandescent and fluorescent light and a Wood lamp. Indirect ophthalmoscopy was performed in patients with unexplained hypopigmentation to screen for retinal manifestations of TS. RESULTS: Twenty individuals (4.7%) had at least one hypopigmented macule. Of these, four had more than one macule. None had more than three. Two (8%) of the 25 hypopigmented macules were identified only with a Wood lamp. Indirect ophthalmoscopy was performed in 13 (65%) of these 20 individuals. None showed the retinal findings of TS. CONCLUSIONS: The prevalence of hypopigmented macules in the general population has been underestimated. The presence of a few hypopigmented macules on the skin of an otherwise healthy individual without a family history of TS need not prompt an evaluation to rule out this disorder.

Familial pityriasis rubra pilaris.

BACKGROUND: Familial pityriasis rubra pilaris is a rare autosomal dominant skin disorder. Four individuals from one family are described who demonstrate clinical features compatible with a diagnosis of familial pityriasis rubra pilaris. Results of light and electron microscopic, immunocytochemical, and biochemical analysis of skin biopsy specimens from three of these four individuals are presented. OBSERVATIONS: All affected individuals demonstrated erythematous scaly skin with follicular prominence and islands of sparing. Inheritance was consistent with an autosomal dominant trait. Light and electron microscopic findings were compatible with those reported in sporadic cases of pityriasis rubra pilaris. Immunocytochemistry showed suprabasal staining with monoclonal antibody AE1. Immunoblot analysis revealed abnormal keratins with K6/16 expression, the possibility of an abnormal K14 or K16, and a 45-kd acidic keratin not normally expressed in epidermis. Because similar biochemical analyses have not been reported previously in other cases of pityriasis rubra pilaris (familial or sporadic), comparisons cannot be made. CONCLUSIONS: The observations suggest that the cutaneous abnormality in this family extends beyond clinical and morphological alterations to abnormalities in biochemical markers of epidermal differentiation.

Severe skin erosions and scalp infections in AEC syndrome.

Hay-Wells syndrome is an autosomal dominant condition characterized by ankyloblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate with or without associated cleft lip (AEC syndrome). Although several reported patients had eroded skin at birth and recurrent scalp infections, these are not generally regarded as major features of the disorder. In our experience, denuded skin at birth and chronic scalp erosions complicated by infection are common features of this syndrome. Aggressive wound care in conjunction with early administration of topical or systemic antibiotics is suggested.