The rapid CK antibody staining technique enhances the sensitivity of tumor identification in Mohs micrographic surgery, and should reduce tumor recurrence rates.

Two half brothers (maternally related) had a similar syndrome of microhydrocephaly in both brothers and dilatation of the spinal canal with fusion of thalami in one brother. Primordial growth delay was noted in both brothers, with severe mental retardation in the surviving brother. Both had ectodermal dysplasia with scaling, hyperkeratosis, and generalized alopecia, but normal sweat and sebaceous glands. Skeletal anomalies included hemivertebrae with abnormal segmentation in one and scoliosis with polydactyly in the other. Ears were apparently low set, large, and protruding, with mixed hearing loss in the brother who survived. Eye anomalies included maldevelopment of one eye in Patient 1 and small optic nerves more noticeable on one side in Patient 2. Both had cryptorchidism and dysplastic/hypoplastic kidneys of varying severity that resulted in the early postnatal death of one sib. Manifestations present in only one or the other sib included submucous cleft palate, aganglionosis of the rectum and colon, agenesis of one testicle, and single umbilical artery. This syndrome has not been described previously and may be due to an X-linked mutation. The acronym BRESEK reflects the common findings, whereas BRESHECK denotes all manifestations of both patients: brain, retardation, ectodermal dysplasia, skeletal deformities, Hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia. In addition to an X-linked mutation, a contiguous gene deletion or maternal mosaicism of an autosomal dominant gene must be considered.

Uncombable-hair syndrome is a rare disorder of scalp hair that starts early in childhood. It is characterized clinically as unruly hair and by scanning electron microscopy as longitudinally grooved hairs with a triangular cross section. Because of the controversy of inheritance and prior reports of similar changes in normal and other hair disorders, we performed a quantitative scanning electron microscopic assessment of four patients with uncombable-hair syndrome, first-degree relatives, and nonaffected controls. Our results indicate that longitudinal grooving of scalp hair is a common occurrence, and that for clinical changes to be apparent, approximately 50% of hairs must be affected.

The histopathology and immunofluorescence of discoid lupus erythematosus (DLE) are well documented in adults, but in children they have not been studied systematically. We reviewed nine skin biopsy specimens from six children with DLE. Only three specimens showed the well-developed epidermal changes seen in lesions of adults with DLE, and in the other six, these changes were either mild or absent. All nine specimens showed some degree of vacuolar alteration of the basal layer, ranging from focal and mild to severe. They all had a moderate to heavy lymphocytic dermal infiltrate in a perivascular and periadnexal distribution. Direct immunofluorescence performed on five specimens of lesional skin was weakly positive for IgM or IgG in three cases, negative in one, and strongly positive for IgM, IgG, IgA, and C3 in one. This study indicates that the range of histologic and immunofluorescence features in children with DLE is similar to that in adults. The histologic findings are distinctive enough to be useful in establishing the diagnosis, although clinicopathologic correlation is required.