Browsing by Author "Happle, R."

The Schimmelpenning-Feuerstein-Mims syndrome (SFM syndrome) is a rare and variable multisystem defect consisting of congenital, extensive linear nevus sebaceus and associated abnormalities in different neuroectodermal organ systems. We present the history of a 52-year-old female patient with disproportionate hyposomia and asymmetric constitution. From birth she suffered from a right-sided, extensive nevus sebaceus following Blaschko's lines extending on the scalp, neck, right arm and trunk. At the age of 5 years, she developed a generalized growth retardation, along with deformations of bones. At the age of 11, hypophosphatemic rickets was diagnosed causing this growth retardation. Moreover, the patient developed a precocious puberty at the age of 9 years. When we saw the patient 40 years after the diagnosis had been made, phosphaturia had returned to normal. Specific therapy of hypophosphatemic rickets is straightforward and efficient in preventing late complications like growth retardation. We suggest to conduct appropriate laboratory tests in early childhood in patients with an extensive systematized sebaceous nevus or with additional signs of growth retardation or skeletal involvement, in order to exclude hypophosphatemic rickets associated with SFM syndrome. Copyright (C) 2003 S. Karger AG, Basel.

A 42-year-old man had a large speckled lentiginous nevus on the left side of his trunk. The involved area was painful when touched and paresthetic. Moreover, the ipsilateral half of his body showed a pronounced hyperhidrosis. This case can be categorized as a typical example of speckled lentiginous nevus syndrome, a recently recognized phenotype characterized by a speckled lentiginous nevus of the papular type and ipsilateral neurological abnormalities in the form of dysesthesia, muscular weakness or hyperhidrosis. Speckled lentiginous nevus syndrome represents a mosaic phenotype. Most likely it originates from loss of heterozygosity occurring in a heterozygous embryo at an early developmental stage. Copyright (C) 2004 S. Karger AG, Basel.