Andrea M. Dominey

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. In one family, affected individuals exhibited a mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two other families, affected individuals had mutations in the highly conserved amino terminal of the rod domain of keratin 10. Structural analysis of these mutations predicts that heterodimer formation would be unaffected, although filament assembly and elongation would be severely compromised. These data imply that an intact keratin intermediate filament network is required for the maintenance of both cellular and tissue integrity.

Papulonodular demodicidosis associated with acquired immunodeficiency syndrome

We describe a papulonodular variant of demodicidosis seen in two patients with acquired immunodeficiency syndrome and its successful treatment with 1% gamma benzene hexachloride and 1% permethrin cream rinse. Alterations in T cell function may allow otherwise commensal organisms to proliferate to the point of causing disease.

Pityriasis folliculorum revisited

Six cases of facial erythema with follicular plugging are described. These cases correspond with characteristics of the disorder pityriasis folliculorum, a presumed demodicidosis. Treatment modalities included topical tretinoin, gamma benzene hexachloride (lindane) lotion, and 1% permethrin cream rinse.

Congenital rhabdoid sarcoma with cutaneous metastases

Rhabdoid sarcoma is an uncommon tumor that most frequently arises in the kidney. Congenital lesions have been documented in only a few cases. Primary or metastatic disease of the skin or subcutis is rare. We report the first case of congenital rhabdoid sarcoma that arose as a subcutaneous tumor in a neonate. Cutaneous metastases were present.

Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia

Congenital adrenal hypoplasia has been estimated to occur in approximately 1 of 12,500 births. Hyperpigmentation associated with this condition typically appears gradually during a period of months to years. We describe a newborn infant with profound hyperpigmentation in whom adrenal crisis subsequently developed as a result of congenital adrenal hypoplasia.

Congenital Cutaneous and Subcutaneous Nodules

A 4664-g black girl, the product of a 41-week uncomplicated pregnancy, was born to a 23-year-old mother who was negative for the human immunodeficiency virus, rapid plasma reagin, and hepatitis B. At birth, the infant was noted to have numerous cutaneous nodules and lesions resembling hemangiomas that increased in size over the first few days (Figs. 1 and 2). The initial physical examination was also notable for hepatomegaly and right flank fullness. A complete blood cell count was normal. A skin biopsy specimen revealed a dermal infiltrate composed of small cells with hyperchromatic nuclei and minima! cytoplasm (Figs. 3 and 4). An abdominal ultrasound examination showed a 3 X 6 X 3-cm right suprarenal mass without calcification and a 7 X 5 X 9-cm mass of low echogenicity in the left lobe of the liver. Hypocellularity was seen on bone marrow examination, and a collection of tumor cells was present in adjacent soft tissue. The infant was transferred to our institution for exploratory laparotomy and debulking. At surgery, a nonresectable retroperitoneal tumor adjacent to, but not involving, the right adrenal gland was found. Hepatic involvement was noted. The patient died shortly after surgery. What is your diagnosis?